Revista de Biología Tropical ISSN Impreso: 0034-7744 ISSN electrónico: 2215-2075

OAI: https://revistas.ucr.ac.cr/index.php/rbt/oai
Un cuarto de siglo de investigación genética en los trastornos neuropsiquiátricos en Costa Rica
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Keywords

psychiatry; brain; gene mapping; phenotype; endophenotype; gene.

How to Cite

Bolaños-Palmieri, P., Chavarria-Soley, G., Contreras, J., & Raventós, H. (2019). Un cuarto de siglo de investigación genética en los trastornos neuropsiquiátricos en Costa Rica. Revista De Biología Tropical, 67(S2), S1–S25. https://doi.org/10.15517/rbt.v67i2SUPL.37188

Abstract

Abstract: A quarter century of genetic research on neuropsychiatric disorders in Costa Rica. In Costa Rica, the study of the genetic basis of neuropsychiatric disorders started more than 25 years ago. During this time, different research efforts have focused on several disorders: schizophrenia, bipolar disorder, Alzheimer’s disease, obsessive-compulsive disorder, attention deficit/hyperactivity disorder, and Tourette syndrome. The studies have had a wide scope regarding design (linkage/association), sample used (families/sib pairs/trios), genome coverage (candidate gene studies/genome-wide scans), and phenotype definition (diagnostic category/ syndromic classification/endophenotype). Here we present a summary of the main genomic findings of these multidisciplinary studies, and discuss the importance, lessons, and challenges of genetic research of complex psychiatric disorders.

https://doi.org/10.15517/rbt.v67i2SUPL.37188
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References

Abecasis, G. R., Burt, R. A, Hall, D., Bochum, S., Doheny, K. F., Lundy, S. L., … Karayiorgou, M. (2004). Genomewide scan in families with schizophrenia from the founder population of Afrikaners reveals evidence for linkage and uniparental disomy on chromosome 1. American Journal of Human Genetics, 74(3), 403-417. DOI: 10.1086/381713

Abelson, J. F., Kwan, K. Y., O’Roak, B. J., Baek, D. Y., Stillman, A. A, Morgan, T. M., … State, M. W. (2005). Sequence variants in SLITRK1 are associated with Tourette’s syndrome. Science, 310(5746), 317-320. DOI: 10.1126/science.1116502

Altshuler, D., Daly, M. J., & Lander, E. S. (2008). Genetic Mapping in Human Disease. Science, 322(5903), 881-888. DOI: 10.1126/science.1156409

American Psychiatric Association. (2000). Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition, Text Revision (DSM-IV-TR) (4th ed., Vol. 1). Arlington, VA: American Psychiatric Association. DOI: 10.1176/appi.books.9780890423349

Andreasen, N. C. (1995). Symptoms, signs, and diagnosis of schizophrenia. Lancet, 346(8973), 477-481.

Ávila, A. (2018). Asociación entre el número de copias del VNTR del promotor interno del exón 3 del gen MIR137HG y la edad de inicio de la esquizofrenia en el Valle Central de Costa Rica (Tesis de Licenciatura). Universidad de Costa Rica, San José, Costa Rica.

Badner, J. A., Koller, D., Foroud, T., Edenberg, H., Nurnberger, J. I., Zandi, P. P., … Byerley, W. (2012). Genome-wide linkage analysis of 972 bipolar pedigrees using single-nucleotide polymorphisms. Molecular Psychiatry, 17(8), 818-826. DOI: 10.1038/mp.2011.89

Barnett, J. H., & Smoller, J. W. (2009). The genetics of bipolar disorder. Neuroscience, 164(1), 331-343. DOI: 10.1016/j.neuroscience.2009.03.080

Bauer, M., & Pfennig, A. (2005). Epidemiology of bipolar disorders. Epilepsia, 46(Suppl. 4), 8-13.

Bemis, L. T., Chen, R., Amato, C. M., Classen, E. H., Robinson, S. E., Coffey, D. G., … Robinson, W. A. (2008). MicroRNA-137 targets microphthalmia-associated transcription factor in melanoma cell lines. Cancer Research, 68(5), 1362-1368. DOI: 10.1158/0008-5472.CAN-07-2912

Berrocal, M., Peskin, V., Weiss, N. T., Schuler, J., Monge, S., McGough, J. J., … Mathews, C. (2011). Prevalencia y tamizaje del trastorno por déficit atencional con hiperactividad en Costa Rica. Revista Argentina de Psiquiatria, XXII, 337-342.

Beveridge, N J, Tooney, P. a, Carroll, A. P., Gardiner, E., Bowden, N., Scott, R. J., … Cairns, M. J. (2008). Dysregulation of miRNA 181b in the temporal cortex in schizophrenia. Human Molecular Genetics, 17(8), 1156-1168. DOI: 10.1093/hmg/ddn005

Buizer-Voskamp, J. E., Muntjewerff, J.-W., Strengman, E., Sabatti, C., Stefansson, H., Vorstman, J. A. S., & Ophoff, R. A. (2011). Genome-wide analysis shows increased frequency of copy number variation deletions in Dutch schizophrenia patients. Biological Psychiatry, 70(7), 655-662. DOI: 10.1016/j.biopsych.2011.02.015

Carmiol, N., Peralta, J. M., Almasy, L., Contreras, J., Pacheco, A., Escamilla, M. A., … Glahn, D. C. (2014). Shared genetic factors influence risk for bipolar disorder and alcohol use disorders. European Psychiatry: The Journal of the Association of European Psychiatrists, 29(5), 282-287. DOI: 10.1016/j.eurpsy.2013.10.001

Chavarría-Siles, I., Contreras-Rojas, J., Hare, E., Walss-Bass, C., Quezada, P., Dassori, A., … Escamilla, M. a. (2008). Cannabinoid receptor 1 gene (CNR1) and susceptibility to a quantitative phenotype for hebephrenic schizophrenia. American Journal of Medical Genetics, 147(3), 279-284. DOI: 10.1002/ajmg.b.30592

Chavarría-Siles, I., Walss-Bass, C., Quezada, P., Dassori, a, Contreras, S., Medina, R., … Escamilla, M. a. (2007). TGFB-induced factor (TGIF): a candidate gene for psychosis on chromosome 18p. Molecular Psychiatry, 12(11), 1033-1041. DOI: 10.1038/sj.mp.4001997

Chavira, D. A., Garrido, H., Bagnarello, M., Azzam, A., Reus, V. I., & Mathews, C. A. (2008). A comparative study of obsessive-compulsive disorder in Costa Rica and the United States. Depression and Anxiety, 25(7), 609-619. DOI: 10.1002/da.20357

Chen, Y., Hancock, M. L., Role, L. W., & Talmage, D. A. (2010). Intramembranous valine linked to schizophrenia is required for neuregulin 1 regulation of the morphological development of cortical neurons. The Journal of Neuroscience, 30(27), 9199-9208. DOI: 10.1523/JNEUROSCI.0605-10.2010

Constantino, J. N., Zhang, Y., Frazier, T., Abbacchi, A. M., & Law, P. (2010). Sibling recurrence and the genetic epidemiology of autism. The American Journal of Psychiatry, 167(11), 1349-1356. DOI: 10.1176/appi.ajp.2010.09101470

Contreras, J., Dassori, A., Medina, R., Raventos, H., Ontiveros, A., Nicolini, H., … Escamilla, M. (2009). Diagnosis of schizophrenia in latino populations: a comparison of direct interview and consensus based multi-source methods. The Journal of Nervous and Mental Disease, 197(7), 530-535. DOI: 10.1097/NMD.0b013e3181aac935

Contreras, J, Hare, L., Camarena, B., Glahn, D., Dassori, A., Medina, R., … Escamilla, M. (2009). The serotonin transporter 5-HTTPR polymorphism is associated with current and lifetime depression in persons with chronic psychotic disorders. Acta Psychiatrica Scandinavica, 119(2), 117-127. DOI: 10.1111/j.1600-0447.2008.01273.x

Contreras, J., Hare, E., Chavarría, G., & Raventós, H. (2018). Quantitative genetic analysis of anxiety trait in bipolar disorder. Journal of Affective Disorders, 225, 395-398. DOI: 10.1016/j.jad.2017.08.023

Contreras, J., Hare, E., Chavarría-Soley, G., & Raventós, H. (2018). Genome-wide QTL analysis for anxiety trait in bipolar disorder type I. Journal of Affective Disorders, 234, 105-108. DOI: 10.1016/j.jad.2017.12.019

Contreras, J., Hare, E., Escamilla, M., & Raventos, H. (2012). Principal domains of quantitative anxiety trait in subjects with lifetime history of mania. Journal of Affective Disorders, 136(1-2), e69-75. DOI: 10.1016/j.jad.2011.06.036

Contreras, J., Hare, E., Pacheco, A., Escamilla, M., & Raventos, H. (2010). Is subclinical anxiety an endophenotype for bipolar I patients? A study from a Costa Rican sample. Journal of Affective Disorders, 122(3), 267-272. DOI: 10.1016/j.jad.2009.07.017

Contreras, J., Hernández, S., Quezada, P., Dassori, A., Walss-Bass, C., Escamilla, M., & Raventos, H. (2010). Association of serotonin transporter promoter gene polymorphism (5-HTTLPR) with depression in Costa Rican schizophrenic patients. Journal of Neurogenetics, 24(2), 83-89. DOI: 10.3109/01677060903583994

Cooper-Casey, K., Mésen-Fainardi, A., Galke-Rollins, B., Llach, M., Laprade, B., Rodriguez, C., … Byerley, W. (2005). Suggestive linkage of schizophrenia to 5p13 in Costa Rica. Molecular Psychiatry, 10(7), 651-656. DOI: 10.1038/sj.mp.4001640

Craddock, N., & Sklar, P. (2013). Genetics of bipolar disorder. Lancet, 381(9878), 1654-1662. DOI: 10.1016/S0140-6736(13)60855-7

Davis, L. K., Yu, D., Keenan, C. L., Gamazon, E. R., Konkashbaev, A. I., Derks, E. M., … Scharf, J. M. (2013). Partitioning the heritability of Tourette syndrome and obsessive compulsive disorder reveals differences in genetic architecture. PLoS Genetics, 9(10), e1003864. DOI: 10.1371/journal.pgen.1003864

DeLisi, L. E., Mesen, A., Rodriguez, C., Bertheau, A., LaPrade, B., Llach, M., … Sherrington, R. (2002). Genome-wide scan for linkage to schizophrenia in a Spanish-origin cohort from Costa Rica. American Journal of Medical Genetics, 114(5), 497-508. DOI: 10.1002/ajmg.10538

Escamilla, M., Hare, E., Dassori, A. M., Peralta, J. M., Ontiveros, A., Nicolini, H., … Almasy, L. (2009). A schizophrenia gene locus on chromosome 17q21 in a new set of families of Mexican and central american ancestry: evidence from the NIMH Genetics of schizophrenia in latino populations study. The American Journal of Psychiatry, 166(4), 442-449. DOI: 10.1176/appi.ajp.2008.08040612

Escamilla, M., Lee, B. D., Ontiveros, A., Raventos, H., Nicolini, H., Mendoza, R., … Dassori, A. (2008). The epsin 4 gene is associated with psychotic disorders in families of Latin American origin. Schizophrenia Research, 106(2-3), 253-257. DOI: 10.1016/j.schres.2008.09.005

Escamilla, M. A., McInnes, L. A., Service, S. K., Spesny, M., Reus, V. I., Molina, J., … Freimer, N. B. (2001). Genome screening for linkage disequilibrium in a Costa Rican sample of patients with bipolar-I disorder: a follow-up study on chromosome 18. American Journal of Medical Genetics, 105(2), 207-213.

Escamilla, M. A., McInnes, L. A., Spesny, M., Reus, V. I., Service, S. K., Shimayoshi, N., … Freimer, N. B. (1999). Assessing the feasibility of linkage disequilibrium methods for mapping complex traits: an initial screen for bipolar disorder loci on chromosome 18. American Journal of Human Genetics, 64(6), 1670-1678. DOI: 10.1086/302400

Escamilla, M, Ontiveros, A., Nicolini, H., Raventos, H., Mendoza, R., Medina, R., … Almasy, L. (2007). A genome-wide scan for schizophrenia and psychosis susceptibility loci in families of Mexican and Central American ancestry. American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : The Official Publication of the International Society of Psychiatric Genetics, 144B(2), 193-199. DOI: 10.1002/ajmg.b.30411

Escamilla, M. A., Spesny, M., Reus, V. I., Gallegos, A., Meza, L., Molina, J., … Freimer, N. B. (1996). Use of linkage disequilibrium approaches to map genes for bipolar disorder in the Costa Rican population. American Journal of Medical Genetics, 67(3), 244-253. DOI: 10.1002/(SICI)1096-8628(19960531)67:3<244::AID-AJMG2>3.0.CO;2-N

Fallin, M. D., Lasseter, V. K., Liu, Y., Avramopoulos, D., McGrath, J., Wolyniec, P. S., … Pulver, A. E. (2011). Linkage and association on 8p21.2-p21.1 in schizophrenia. American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : The Official Publication of the International Society of Psychiatric Genetics, 156(2), 188-197. DOI: 10.1002/ajmg.b.31154

Farrer, L., Cupples, L., Haines, J., Hyman, B., Kukull, W., Mayeux, R., … van Dujin, C. (1997). Effects of age, sex, and ethnicity on the association between apolipoprotein E genotype and Alzheimer disease: a meta-analysis. Jama, 278(16), 1349. DOI: 10.1001/jama.1997.03550160069041

Ferreira, M. A. R., O’Donovan, M. C., Meng, Y. A., Jones, I. R., Ruderfer, D. M., Jones, L., … Craddock, N. (2008). Collaborative genome-wide association analysis supports a role for ANK3 and CACNA1C in bipolar disorder. Nature Genetics, 40(9), 1056-1058. DOI: 10.1038/ng.209

Folstein, S. E., & Rosen-Sheidley, B. (2001). Genetics of autism: complex aetiology for a heterogeneous disorder. Nature Reviews. Genetics, 2(12), 943-955. DOI: 10.1038/35103559

Freimer, N. B., Reus, V. I., Escamilla, M. A., McInnes, L. A., Spesny, M., Leon, P., … Sandkuijl, L. A. (1996). Genetic mapping using haplotype, association and linkage methods suggests a locus for severe bipolar disorder (BPI) at 18q22-q23. Nature Genetics, 12(4), 436-441. DOI: 10.1038/ng0496-436

Freimer, N. B., Reus, V. I., Escamilla, M., Spesny, M., Smith, L., Service, S., … Sandkuijl, L. A. (1996). An approach to investigating linkage for bipolar disorder using large Costa Rican pedigrees. American Journal of Medical Genetics, 67(3), 254-263. DOI: 10.1002/(SICI)1096-8628(19960531)67:3<254::AID-AJMG3>3.0.CO;2-N

Garner, C., McInnes, L. A., Service, S. K., Spesny, M., Fournier, E., Leon, P., & Freimer, N. B. (2001). Linkage analysis of a complex pedigree with severe bipolar disorder, using a Markov chain Monte Carlo method. American Journal of Human Genetics, 68(4), 1061-1064. DOI: 10.1086/319517

Giegling, I., Hosak, L., Mössner, R., Serretti, A., Bellivier, F., Claes, S., … Rujescu, D. (2017). Genetics of schizophrenia: A consensus paper of the WFSBP Task Force on Genetics. The World Journal of Biological Psychiatry: The Official Journal of the World Federation of Societies of Biological Psychiatry, 18(7), 492-505. DOI: 10.1080/15622975.2016.1268715

Gladwin, T. E., Derks, E. M., Rietschel, M., Mattheisen, M., Breuer, R., Schulze, T. G., … Ophoff, R. A. (2012). Segment-wise genome-wide association analysis identifies a candidate region associated with schizophrenia in three independent samples. PloS One, 7(6), e38828. DOI: 10.1371/journal.pone.0038828

Glahn, D. C., Almasy, L., Barguil, M., Hare, E., Peralta, J. M., Kent, J. W., … Escamilla, M. A. (2010). Neurocognitive endophenotypes for bipolar disorder identified in multiplex multigenerational families. Archives of General Psychiatry, 67(2), 168-177. DOI: 10.1001/archgenpsychiatry.2009.184

Glahn, D. C., Knowles, E. E. M., McKay, D. R., Sprooten, E., Raventós, H., Blangero, J., … Almasy, L. (2014). Arguments for the sake of endophenotypes: examining common misconceptions about the use of endophenotypes in psychiatric genetics. American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics: The Official Publication of the International Society of Psychiatric Genetics, 165B(2), 122-130. DOI: 10.1002/ajmg.b.32221

Glahn, D. C., Nimgaonkar, V. L., Raventós, H., Contreras, J., McIntosh, A. M., Thomson, P. A., … Blangero, J. (2018). Rediscovering the value of families for psychiatric genetics research. Molecular Psychiatry. DOI: 10.1038/s41380-018-0073-x

Gonzalez, S., Camarillo, C., Rodriguez, M., Ramirez, M., Zavala, J., Armas, R., … Escamilla, M. (2014). A genome-wide linkage scan of bipolar disorder in Latino families identifies susceptibility loci at 8q24 and 14q32. American Journal of Medical Genetics, 165(6), 479-491. DOI: 10.1002/ajmg.b.32251

Gonzalez, S., Xu, C., Ramirez, M. E., Zavala, J. M., Armas, R., Contreras, S. A., … Escamilla, M. (2013a). Family-based association of an ANK3 haplotype with bipolar disorder in Latino populations. Translational Psychiatry, 3, e265. DOI: 10.1038/tp.2013.40

Gonzalez, S., Xu, C., Ramirez, M., Zavala, J., Armas, R., Contreras, S. A., … Escamilla, M. (2013b). Suggestive evidence for association between L-type voltage-gated calcium channel (CACNA1C) gene haplotypes and bipolar disorder in Latinos: a family-based association study. Bipolar Disorders, 15(2), 206-214. DOI: 10.1111/bdi.12041

Gottesman, I. I., & Gould, T. D. (2003). The Endophenotype Concept in Psychiatry: Etymology and Strategic Intentions. American Journal of Psychiatry, 160(4), 636-645. DOI: 10.1176/appi.ajp.160.4.636

Greenberg, D. A., Cayanis, E., Strug, L., Marathe, S., Durner, M., Pal, D. K., … Kang, H. (2005). Malic Enzyme 2 May Underlie Susceptibility to Adolescent-Onset Idiopathic Generalized Epilepsy. The American Journal of Human Genetics, 76(1), 139-146. DOI: 10.1086/426735

Guella, I., Sequeira, A., Rollins, B., Morgan, L., Myers, R. M., Watson, S. J., … Vawter, M. P. (2014). Evidence of allelic imbalance in the schizophrenia susceptibility gene ZNF804A in human dorsolateral prefrontal cortex. Schizophrenia Research, 152(1), 111-116. DOI: 10.1016/j.schres.2013.11.021

Gurling, H. M., Kalsi, G., Brynjolfson, J., Sigmundsson, T., Sherrington, R., Mankoo, B. S., … Curtis, D. (2001). Genomewide genetic linkage analysis confirms the presence of susceptibility loci for schizophrenia, on chromosomes 1q32.2, 5q33.2, and 8p21-22 and provides support for linkage to schizophrenia, on chromosomes 11q23.3-24 and 20q12.1-11.23. American Journal of Human Genetics, 68(3), 661-673. DOI: 10.1086/318788

Hawton, K., Sutton, L., Haw, C., Sinclair, J., & Harriss, L. (2005). Suicide and attempted suicide in bipolar disorder: a systematic review of risk factors. The Journal of Clinical Psychiatry, 66(6), 693-704.

Herzberg, I., Jasinska, A., García, J., Jawaheer, D., Service, S., Kremeyer, B., … Ruiz-Linares, A. (2006). Convergent linkage evidence from two Latin-American population isolates supports the presence of a susceptibility locus for bipolar disorder in 5q31-34. Human Molecular Genetics, 15(21), 3146-3153. DOI: 10.1093/hmg/ddl254

Ho, B.-C., Wassink, T. H., Ziebell, S., & Andreasen, N. C. (2011). Cannabinoid receptor 1 gene polymorphisms and marijuana misuse interactions on white matter and cognitive deficits in schizophrenia. Schizophrenia Research, 128(1-3), 66-75. DOI: 10.1016/j.schres.2011.02.021

Holliday, E. G., Mowry, B. J., & Nyholt, D. R. (2008). A reanalysis of 409 European-Ancestry and African American schizophrenia pedigrees reveals significant linkage to 8p23.3 with evidence of locus heterogeneity. American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics, 147B(7), 1080-1088. DOI: 10.1002/ajmg.b.30722

Hong, K. S., McInnes, L. A., Service, S. K., Song, T., Lucas, J., Silva, S., … Freimer, N. B. (2004). Genetic mapping using haplotype and model-free linkage analysis supports previous evidence for a locus predisposing to severe bipolar disorder at 5q31-33. American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : The Official Publication of the International Society of Psychiatric Genetics, 125B(1), 83-86. DOI: 10.1002/ajmg.b.20091

Insel, T. R. (2010). Rethinking schizophrenia. Nature, 468(7321), 187-193. DOI: 10.1038/nature09552

Iyegbe, C., Campbell, D., Butler, A., Ajnakina, O., & Sham, P. (2014). The emerging molecular architecture of schizophrenia, polygenic risk scores and the clinical implications for GxE research. Social Psychiatry and Psychiatric Epidemiology, 49(2), 169-182. DOI: 10.1007/s00127-014-0823-2

Jasinska, A., Service, S., Jawaheer, D., DeYoung, J., Levinson, M., Zhang, Z., … Freimer, N. B. (2009). A narrow and highly significant linkage signal for severe bipolar disorder in the chromosome 5q33 region in Latin American pedigrees. American Journal of Medical Genetics, 150B(7), 998-1006. DOI: 10.1002/ajmg.b.30956

Kalthoff, C., Groos, S., Kohl, R., Mahrhold, S., & Ungewickell, E. J. (2002). Clint: A Novel Clathrin-binding ENTH-Domain Protein at the Golgi. Molecular Biology of the Cell, 13(11), 4060-4073. DOI: 10.1091/mbc.E02-03-0171

Keen-Kim, D., Mathews, C. A., Reus, V. I., Lowe, T. L., Herrera, L. D., Budman, C. L., … Freimer, N. B. (2006). Overrepresentation of rare variants in a specific ethnic group may confuse interpretation of association analyses. Human Molecular Genetics, 15(22), 3324-3328. DOI: 10.1093/hmg/ddl408

Kukshal, P., Bhatia, T., Bhagwat, A. M., Gur, R. E., Gur, R. C., Deshpande, S. N., … Thelma, B. K. (2013). Association study of neuregulin-1 gene polymorphisms in a North Indian schizophrenia sample. Schizophrenia Research, 144(1-3), 24-30. DOI: 10.1016/j.schres.2012.12.017

Kutejova, E., Briscoe, J., & Kicheva, A. (2009). Temporal dynamics of patterning by morphogen gradients. Current Opinion in Genetics & Development, 19(4), 315-322. DOI: 10.1016/j.gde.2009.05.004

Lambert, J.-C., & Amouyel, P. (2011). Genetics of Alzheimer’s disease: new evidences for an old hypothesis? Current Opinion in Genetics & Development, 21(3), 295-301. DOI: 10.1016/j.gde.2011.02.002

Leckman, J. F., Grice, D. E., Boardman, J., Zhang, H., Vitale, A., Bondi, C., … Pauls, D. L. (1997). Symptoms of obsessive-compulsive disorder. The American Journal of Psychiatry, 154(7), 911-917.

Lee, B. D., Walss-Bass, C., Thompson, P. M., Dassori, A., Montero, P. a, Medina, R., … Escamilla, M. A. (2007). Malic enzyme 2 and susceptibility to psychosis and mania. Psychiatry Research, 150(1), 1-11. DOI: 10.1016/j.psychres.2006.06.001

Lencz, T., Szeszko, P. R., DeRosse, P., Burdick, K. E., Bromet, E. J., Bilder, R. M., & Malhotra, A. K. (2010). A schizophrenia risk gene, ZNF804A, influences neuroanatomical and neurocognitive phenotypes. Neuropsychopharmacology, 35(11), 2284-2291. DOI: 10.1038/npp.2010.102

Leon, C. A., Schumacher, J., Kluck, N., Herold, C., Schulze, T. G., Propping, P., … Jamra, R. A. (2011). Association study of the GRIA1 and CLINT1 (Epsin 4) genes in a German schizophrenia sample. Psychiatric Genetics, 21(2), 114. DOI: 10.1097/YPG.0b013e328341a334

Lewis, C. M., Levinson, D. F., Wise, L. H., DeLisi, L. E., Straub, R. E., Hovatta, I., … Helgason, T. (2003). Genome scan meta-analysis of schizophrenia and bipolar disorder, part II: Schizophrenia. American Journal of Human Genetics, 73(1), 34-48. DOI: 10.1086/376549

Li, D., Collier, D. A., & He, L. (2006). Meta-analysis shows strong positive association of the neuregulin 1 (NRG1) gene with schizophrenia. Human Molecular Genetics, 15(12), 1995-2002. DOI: 10.1093/hmg/ddl122

Lindholm Carlström, E., Saetre, P., Rosengren, A., Thygesen, J. H., Djurovic, S., Melle, I., … Jönsson, E. G. (2012). Association between a genetic variant in the serotonin transporter gene (SLC6A4) and suicidal behavior in patients with schizophrenia. Behavioral and Brain Functions: BBF, 8, 24. DOI: 10.1186/1744-9081-8-24

Liu, Y., Blackwood, D. H., Caesar, S., de Geus, E. J. C., Farmer, A., Ferreira, M. A. R., … Sullivan, P. F. (2011). Meta-analysis of genome-wide association data of bipolar disorder and major depressive disorder. Molecular Psychiatry, 16(1), 2-4. DOI: 10.1038/mp.2009.107

MacArthur, D. G., Balasubramanian, S., Frankish, A., Huang, N., Morris, J., Walter, K., … Tyler-Smith, C. (2012). A systematic survey of loss-of-function variants in human protein-coding genes. Science, 335(6070), 823-828. DOI: 10.1126/science.1215040

MacIntyre, D. J., Blackwood, D. H. R., Porteous, D. J., Pickard, B. S., & Muir, W. J. (2003). Chromosomal abnormalities and mental illness. Molecular Psychiatry, 8(3), 275-287. DOI: 10.1038/sj.mp.4001232

Malhotra, A. K., Goldman, D., Mazzanti, C., Clifton, A., Breier, A., & Pickar, D. (1998). A functional serotonin transporter (5-HTT) polymorphism is associated with psychosis in neuroleptic-free schizophrenics. Molecular Psychiatry, 3(4), 328-332.

Mamdani, M., McMichael, G. O., Gadepalli, V., Williamson, V., Parker, E. K., Haroutunian, V., & Vladimirov, V. I. (2013). Differential regulation of schizophrenia-associated microRNA gene function by variable number tandem repeats (VNTR) polymorphism. Schizophrenia Research, 151(1-3), 284-286. DOI: 10.1016/j.schres.2013.10.024

Manolio, T. A. (2010). Genomewide association studies and assessment of the risk of disease. The New England Journal of Medicine, 363(2), 166-176. DOI: 10.1056/NEJMra0905980

Marballi, K., McCullumsmith, R. E., Yates, S., Escamilla, M. A., Leach, R. J., Raventos, H., & Walss-Bass, C. (2014). Global signaling effects of a schizophrenia-associated missense mutation in neuregulin 1: an exploratory study using whole genome and novel kinome approaches. Journal of Neural Transmission, 479-490. DOI: 10.1007/s00702-013-1142-6

Marballi, K., Quinones, M. P., Jimenez, F., Escamilla, M. A., Raventós, H., Soto-Bernardini, M. C., … Walss-Bass, C. (2010). In vivo and in vitro genetic evidence of involvement of neuregulin 1 in immune system dysregulation. Journal of Molecular Medicine, 88(11), 1133-1141. DOI: 10.1007/s00109-010-0653-y

Marouli, E., Graff, M., Medina-Gomez, C., Lo, K. S., Wood, A. R., Kjaer, T. R., … Lettre, G. (2017). Rare and low-frequency coding variants alter human adult height. Nature, 542(7640), 186-190. DOI: 10.1038/nature21039

Marshall, C. R., Noor, A., Vincent, J. B., Lionel, A. C., Feuk, L., Skaug, J., … Scherer, S. W. (2008). Structural variation of chromosomes in autism spectrum disorder. American Journal of Human Genetics, 82(2), 477-488. DOI: 10.1016/j.ajhg.2007.12.009

Martínez-Gras, I., Hoenicka, J., Ponce, G., Rodríguez-Jiménez, R., Jiménez-Arriero, M. A., Pérez-Hernandez, E., … Rubio, G. (2006). (AAT)n repeat in the cannabinoid receptor gene, CNR1: association with schizophrenia in a Spanish population. European Archives of Psychiatry and Clinical Neuroscience, 256(7), 437-441. DOI: 10.1007/s00406-006-0665-3

Mathews, C. A., & Grados, M. A. (2011). Familiality of Tourette syndrome, obsessive-compulsive disorder, and attention-deficit/hyperactivity disorder: heritability analysis in a large sib-pair sample. Journal of the American Academy of Child and Adolescent Psychiatry, 50(1), 46-54. DOI: 10.1016/j.jaac.2010.10.004

Mathews, C, Amighetti, L. D. H., Lowe, T. L., Van De Wetering, B. J. M., Freimer, N. B., & Reus, V. I. (2001). Cultural Influences on Diagnosis and Perception of Tourette Syndrome in Costa Rica. Journal of the American Academy of Child & Adolescent Psychiatry, 40(4), 456-463. DOI: 10.1097/00004583-200104000-00015

Mathews, C., Jang, K. L., Herrera, L. D., Lowe, T. L., Budman, C. L., Erenberg, G., … Reus, V. I. (2007). Tic symptom profiles in subjects with Tourette Syndrome from two genetically isolated populations. Biological Psychiatry, 61(3), 292-300. DOI: 10.1016/j.biopsych.2006.02.009

Mathews, C. A., Reus, V. I., Bejarano, J., Escamilla, M. A., Fournier, E., Herrera, L. D., … Freimer, N. B. (2004). Genetic studies of neuropsychiatric disorders in Costa Rica: a model for the use of isolated populations. Psychiatric Genetics, 14(1), 13-23.

Maxwell, M. (1992) Family Interview for Genetic Studies (FIGS): A Manual for FIGS. Bethesda, MD: NIMH, Clinical Neurogenetics Branch.

Mayeux, R., & Stern, Y. (2012). Epidemiology of Alzheimer disease. Cold Spring Harbor Perspectives in Medicine, 2(8), 1-18. DOI: 10.1101/cshperspect.a006239

McClellan, J. M., Susser, E., & King, M.-C. (2007). Schizophrenia: a common disease caused by multiple rare alleles. The British Journal of Psychiatry: The Journal of Mental Science, 190, 194-199. DOI: 10.1192/bjp.bp.106.025585

McClellan, J., & King, M.-C. (2010). Genetic heterogeneity in human disease. Cell, 141(2), 210-217. DOI: 10.1016/j.cell.2010.03.032

McGuffin, P., Rijsdijk, F., Andrew, M., Sham, P., Katz, R., & Cardno, A. (2003). The heritability of bipolar affective disorder and the genetic relationship to unipolar depression. Archives of General Psychiatry, 60(5), 497-502. DOI: 10.1001/archpsyc.60.5.497

McInnes, L. a, Escamilla, M. a, Service, S. K., Reus, V. I., Leon, P., Silva, S., … Freimer, N. B. (1996). A complete genome screen for genes predisposing to severe bipolar disorder in two Costa Rican pedigrees. Proceedings of the National Academy of Sciences of the United States of America, 93(23), 13060-13065.

McInnes, L., González, P. J., Manghi, E. R., Esquivel, M., Monge, S., Delgado, M. F., … Castelle, K. (2005). A genetic study of autism in Costa Rica: multiple variables affecting IQ scores observed in a preliminary sample of autistic cases. BMC Psychiatry, 5, 15. DOI: 10.1186/1471-244X-5-15

McInnes, L. A., Nakamine, A., Pilorge, M., Brandt, T., Jiménez González, P., Fallas, M., … Buxbaum, J. D. (2010). A large-scale survey of the novel 15q24 microdeletion syndrome in autism spectrum disorders identifies an atypical deletion that narrows the critical region. Molecular Autism, 1(1), 5. DOI: 10.1186/2040-2392-1-5

McInnes, L., Ouchanov, L., Nakamine, A., Jimenez, P., Esquivel, M., Fallas, M., … Manghi, E. R. (2007). The NRG1 exon 11 missense variant is not associated with autism in the Central Valley of Costa Rica. BMC Psychiatry, 7, 21. DOI: 10.1186/1471-244X-7-21

McInnes, L. A., Service, S. K., Reus, V. I., Barnes, G., Charlat, O., Jawahar, S., … Chen, H. (2001). Fine-scale mapping of a locus for severe bipolar mood disorder on chromosome 18p11.3 in the Costa Rican population. Proceedings of the National Academy of Sciences of the United States of America, 98(20), 11485-11490. DOI: 10.1073/pnas.191519098

Miguel, E. C., Leckman, J. F., Rauch, S., do Rosario-Campos, M. C., Hounie, A. G., Mercadante, M. T., … Pauls, D. L. (2005). Obsessive-compulsive disorder phenotypes: implications for genetic studies. Molecular Psychiatry, 10(3), 258-275. DOI: 10.1038/sj.mp.4001617

Mirow, A. L., Kristbjanarson, H., Egeland, J. A., Shilling, P., Helgason, T., Gillin, J. C., … Kelsoe, J. R. (1994). A linkage study of distal chromosome 5q and bipolar disorder. Biological Psychiatry, 36(4), 223-229.

Moon, E., Rollins, B., Mesén, A., Sequeira, A., Myers, R. M., Akil, H., … Vawter, M. P. (2011). Lack of association to a NRG1 missense polymorphism in schizophrenia or bipolar disorder in a Costa Rican population. Schizophrenia Research, 131(1-3), 52-57. DOI: 10.1016/j.schres.2011.06.024

Moreno-De-Luca, D., Mulle, J. G., Kaminsky, E. B., Sanders, S. J., Myers, S. M., Adam, M. P., … Ledbetter, D. H. (2010). Deletion 17q12 is a recurrent copy number variant that confers high risk of autism and schizophrenia. American Journal of Human Genetics, 87(5), 618-630. DOI: 10.1016/j.ajhg.2010.10.004

Morera, B., & Barrantes, R. (2004). Is the Central Valley of Costa Rica a genetic isolate? Revista De Biologia Tropical, 52(3), 629-644.

Morera, B., Barrantes, R., & Marin-Rojas, R. (2003). Gene admixture in the Costa Rican population. Annals of Human Genetics, 67(Pt 1), 71-80.

Mowry, B. J., & Gratten, J. (2013). The emerging spectrum of allelic variation in schizophrenia: current evidence and strategies for the identification and functional characterization of common and rare variants. Molecular Psychiatry, 18(1), 38-52. DOI: 10.1038/mp.2012.34

Nakamine, A., Ouchanov, L., Jiménez, P., Manghi, E. R., Esquivel, M., Monge, S., … McInnes, L. A. (2008). Duplication of 17(p11.2p11.2) in a male child with autism and severe language delay. American Journal of Medical Genetics. Part A, 146A(5), 636-643. DOI: 10.1002/ajmg.a.31636

Ng, M. Y. M., Levinson, D. F., Faraone, S. V., Suarez, B. K., DeLisi, L. E., Arinami, T., … Lewis, C. M. (2009). Meta-analysis of 32 genome-wide linkage studies of schizophrenia. Molecular Psychiatry, 14(8), 774-785. DOI: 10.1038/mp.2008.135

Nurnberger, J. I., Blehar, M. C., Kaufmann, C. A., York-Cooler, C., Simpson, S. G., Harkavy-Friedman, J., … Reich, T. (1994). Diagnostic interview for genetic studies. Rationale, unique features, and training. NIMH Genetics Initiative. Archives of General Psychiatry, 51(11), 849-859.

O’Donovan, M. C., Craddock, N., Norton, N., Williams, H., Peirce, T., Moskvina, V., … Cloninger, C. R. (2008). Identification of loci associated with schizophrenia by genome-wide association and follow-up. Nature Genetics, 40(9), 1053-1055. DOI: 10.1038/ng.201

Ophoff, R. A., Escamilla, M. A., Service, S. K., Spesny, M., Meshi, D. B., Poon, W., … Freimer, N. B. (2002). Genomewide linkage disequilibrium mapping of severe bipolar disorder in a population isolate. American Journal of Human Genetics, 71(3), 565-574. DOI: 10.1086/342291

Pacheco, A., Barguil, M., Contreras, J., Montero, P., Dassori, A., Escamilla, M. A., & Raventós, H. (2010). Social and clinical comparison between schizophrenia and bipolar disorder type I with psychosis in Costa Rica. Social Psychiatry and Psychiatric Epidemiology, 45(6), 675-680. DOI: 10.1007/s00127-009-0118-1

PAHO-WHO. (2013). WHO-AIMS: Report on Mental Health Systems in Latin America and the Caribbean. Washington, D.C.: Pan American Helth Organization

Park, N., Juo, S. H., Cheng, R., Liu, J., Loth, J. E., Lilliston, B., … Baron, M. (2004). Linkage analysis of psychosis in bipolar pedigrees suggests novel putative loci for bipolar disorder and shared susceptibility with schizophrenia. Molecular Psychiatry, 9(12), 1091-1099. DOI: 10.1038/sj.mp.4001541

Paunio, T., Ekelund, J., Varilo, T., Parker, A., Hovatta, I., Turunen, J. A., … Peltonen, L. (2001). Genome-wide scan in a nationwide study sample of schizophrenia families in Finland reveals susceptibility loci on chromosomes 2q and 5q. Human Molecular Genetics, 10(26), 3037-3048.

Perkins, D. O., Jeffries, C. D., Jarskog, L. F., Thomson, M., Woods, K., Newman, M. A., & Parker, J. S. (2007). microRNA expression in the prefrontal cortex of individuals with schizophrenia and schizoaffective disorder. Genome Biology, 8(2), R27. DOI: 10.1186/gb-2007-8-2-r27

Petryshen, T. L., Middleton, F. A., Kirby, A., Aldinger, K. A., Purcell, S., Tahl, A. R., … Sklar, P. (2005). Support for involvement of neuregulin 1 in schizophrenia pathophysiology. Molecular Psychiatry, 10(4), 366-374, 328. DOI: 10.1038/sj.mp.4001608

Pimm, J., McQuillin, A., Thirumalai, S., Lawrence, J., Quested, D., Bass, N., … Gurling, H. (2005). The Epsin 4 gene on chromosome 5q, which encodes the clathrin-associated protein enthoprotin, is involved in the genetic susceptibility to schizophrenia. American Journal of Human Genetics, 76(5), 902-907. DOI: 10.1086/430095

Ramamoorthy, S., Bauman, A. L., Moore, K. R., Han, H., Yang-Feng, T., Chang, A. S., … Blakely, R. D. (1993). Antidepressant- and cocaine-sensitive human serotonin transporter: molecular cloning, expression, and chromosomal localization. Proceedings of the National Academy of Sciences, 90(6), 2542-2546. DOI: 10.1073/pnas.90.6.2542

Raventós, H. & Contreras, J. (2017). El diagnóstico en psiquiatría: una discusión teórica y práctica para el abordaje clínico. Acta Médica Costarricense, 59(4), 134-137.

Reitz, C., Brayne, C., & Mayeux, R. (2011). Epidemiology of Alzheimer disease. Nature Reviews. Neurology, 7(3), 137-152. DOI: 10.1038/nrneurol.2011.2

Riley, B., Thiselton, D., Maher, B. S., Bigdeli, T., Wormley, B., McMichael, G. O., … Kendler, K. S. (2010). Replication of association between schizophrenia and ZNF804A in the Irish Case-Control Study of Schizophrenia sample. Molecular Psychiatry, 15(1), 29-37. DOI: 10.1038/mp.2009.109

Risch, N., Spiker, D., Lotspeich, L., Nouri, N., Hinds, D., Hallmayer, J., … Myers, R. M. (1999). A genomic screen of autism: evidence for a multilocus etiology. American Journal of Human Genetics, 65(2), 493-507. DOI: 10.1086/302497

Ronemus, M., Iossifov, I., Levy, D., & Wigler, M. (2014). The role of de novo mutations in the genetics of autism spectrum disorders. Nature Reviews. Genetics, 15(2), 133-141. DOI: 10.1038/nrg3585

Ross, J., Badner, J., Garrido, H., Sheppard, B., Chavira, D. A., Grados, M., … Mathews, C. A. (2011). Genomewide linkage analysis in Costa Rican families implicates chromosome 15q14 as a candidate region for OCD. Human Genetics, 130(6), 795-805. DOI: 10.1007/s00439-011-1033-6

Ruscio, A. M., Stein, D. J., Chiu, W. T., & Kessler, R. C. (2010). The epidemiology of obsessive-compulsive disorder in the National Comorbidity Survey Replication. Molecular Psychiatry, 15(1), 53-63. DOI: 10.1038/mp.2008.94

Scharf, J. M., Yu, D., Mathews, C. A., Neale, B. M., Stewart, S. E., Fagerness, J. A., … Pauls, D. L. (2013). Genome-wide association study of Tourette’s syndrome. Molecular Psychiatry, 18(6), 721-728. DOI: 10.1038/mp.2012.69

Schizophrenia Psychiatric Genome-Wide Association Consortium. (2011). Genome-wide association study identifies five new schizophrenia loci. Nature Genetics, 43(10), 969-976. DOI: 10.1038/ng.940

Schizophrenia Working Group of the Psychiatric Genomics Consortium. (2014). Biological insights from 108 schizophrenia-associated genetic loci. Nature, 511(7510), 421-427. DOI: 10.1038/nature13595

Schulze, T. G., Detera-Wadleigh, S. D., Akula, N., Gupta, A., Kassem, L., Steele, J., … McMahon, F. J. (2009). Two variants in Ankyrin 3 (ANK3) are independent genetic risk factors for bipolar disorder. Molecular Psychiatry, 14(5), 487-491. DOI: 10.1038/mp.2008.134

Sebat, J., Levy, D. L., & McCarthy, S. E. (2009). Rare structural variants in schizophrenia: one disorder, multiple mutations; one mutation, multiple disorders. Trends in Genetics: TIG, 25(12), 528-535. DOI: 10.1016/j.tig.2009.10.004

Segura-Wang, M., Raventós, H., Escamilla, M., & Barrantes, R. (2010). Assessment of genetic ancestry and population substructure in Costa Rica by analysis of individuals with a familial history of mental disorder. Annals of Human Genetics, 74(6), 516-524. DOI: 10.1111/j.1469-1809.2010.00612.x

Segurado, R., Detera-Wadleigh, S. D., Levinson, D. F., Lewis, C. M., Gill, M., Nurnberger, J. I., … Akarsu, N. (2003). Genome scan meta-analysis of schizophrenia and bipolar disorder, part III: Bipolar disorder. American Journal of Human Genetics, 73(1), 49-62. DOI: 10.1086/376547

Seifuddin, F., Mahon, P. B., Judy, J., Pirooznia, M., Jancic, D., Taylor, J., … Zandi, P. P. (2012). Meta-analysis of genetic association studies on bipolar disorder. American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics: The Official Publication of the International Society of Psychiatric Genetics, 159B(5), 508-518. DOI: 10.1002/ajmg.b.32057

Service, S., Molina, J., Deyoung, J., Jawaheer, D., Aldana, I., Vu, T., … Freimer, N. (2006). Results of a SNP genome screen in a large Costa Rican pedigree segregating for severe bipolar disorder. American Journal of Medical Genetics, 141B(4), 367-373. DOI: 10.1002/ajmg.b.30323

Sheppard, B., Chavira, D., Azzam, A., Grados, M. A., Umaña, P., Garrido, H., & Mathews, C. A. (2010). ADHD prevalence and association with hoarding behaviors in childhood-onset OCD. Depression and Anxiety, 27(7), 667-674. DOI: 10.1002/da.20691

Shink, E., Morissette, J., Villeneuve, A., Bordeleau, L., Rochette, D., Gagné, B., … Barden, N. (2002). Support for the presence of bipolar disorder susceptibility loci on chromosome 5: heterogeneity in a homogeneous population in Quebec. Progress in Neuro-Psychopharmacology & Biological Psychiatry, 26(7-8), 1273-1277.

Shugart, Y. Y., Samuels, J., Willour, V. L., Grados, M. A., Greenberg, B. D., Knowles, J. A., … Nestadt, G. (2006). Genomewide linkage scan for obsessive-compulsive disorder: evidence for susceptibility loci on chromosomes 3q, 7p, 1q, 15q, and 6q. Molecular Psychiatry, 11(8), 763-770. DOI: 10.1038/sj.mp.4001847

Sklar, P., Pato, M. T., Kirby, A., Petryshen, T. L., Medeiros, H., Carvalho, C., … Pato, C. N. (2004). Genome-wide scan in Portuguese Island families identifies 5q31-5q35 as a susceptibility locus for schizophrenia and psychosis. Molecular Psychiatry, 9(2), 213-218. DOI: 10.1038/sj.mp.4001418

Sklar, P., Ripke, S., Scott, L. J., Andreassen, O. A., Cichon, S., Craddock, N., … Purcell, S. M. (2011). Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4. Nature Genetics, 43(10), 977-983. DOI: 10.1038/ng.943

Sklar, P., Smoller, J. W., Fan, J., Ferreira, M. A. R., Perlis, R. H., Chambert, K., … Purcell, S. M. (2008). Whole-genome association study of bipolar disorder. Molecular Psychiatry, 13(6), 558-569. DOI: 10.1038/sj.mp.4002151

Smoller, J. W., & Finn, C. T. (2003). Family, twin, and adoption studies of bipolar disorder. American Journal of Medical Genetics, 123C(1), 48-58. DOI: 10.1002/ajmg.c.20013

Stefansson, H., Sarginson, J., Kong, A., Yates, P., Steinthorsdottir, V., Gudfinnsson, E., … St Clair, D. (2003). Association of neuregulin 1 with schizophrenia confirmed in a Scottish population. American Journal of Human Genetics, 72(1), 83-87.

Stefansson, H., Sigurdsson, E., Steinthorsdottir, V., Bjornsdottir, S., Sigmundsson, T., Ghosh, S., … Stefansson, K. (2002). Neuregulin 1 and susceptibility to schizophrenia. American Journal of Human Genetics, 71(4), 877-892. DOI: 10.1086/342734

Steinberg, S., Mors, O., Børglum, A. D., Gustafsson, O., Werge, T., Mortensen, P. B., … Stefansson, K. (2011). Expanding the range of ZNF804A variants conferring risk of psychosis. Molecular Psychiatry, 16(1), 59-66. DOI: 10.1038/mp.2009.149

Sullivan, P. F., Agrawal, A., Bulik, C., Andreassen, O. A., Borglum, A., Breen, G., … Consortium, P. G. (2017). Psychiatric Genomics: An Update and an Agenda. BioRxiv, 115600. DOI: 10.1101/115600

Sullivan, P. F., Kendler, K. S., & Neale, M. C. (2003). Schizophrenia as a complex trait: evidence from a meta-analysis of twin studies. Archives of General Psychiatry, 60(12), 1187-1192.

Tan, W., Wang, Y., Gold, B., Chen, J., Dean, M., Harrison, P. J., … Law, A. J. (2007). Molecular Cloning of a Brain-specific, Developmentally Regulated Neuregulin 1 (NRG1) Isoform and Identification of a Functional Promoter Variant Associated with Schizophrenia. Journal of Biological Chemistry, 282(33), 24343-24351. DOI: 10.1074/jbc.M702953200

Tang, R. Q., Zhao, X. Z., Shi, Y. Y., Tang, W., Gu, N. F., Feng, G. Y., … He, L. (2006). Family-based association study of Epsin 4 and Schizophrenia. Molecular Psychiatry, 11(4), 395-399. DOI: 10.1038/sj.mp.4001780

Torres, A. R., Prince, M. J., Bebbington, P. E., Bhugra, D., Brugha, T. S., Farrell, M., … Singleton, N. (2006). Obsessive-compulsive disorder: prevalence, comorbidity, impact, and help-seeking in the British National Psychiatric Morbidity Survey of 2000. The American Journal of Psychiatry, 163(11), 1978-1985. DOI: 10.1176/appi.ajp.163.11.1978

Tsai, S. J., Wang, Y. C., & Hong, C. J. (2000). Association study of a cannabinoid receptor gene (CNR1) polymorphism and schizophrenia. Psychiatric Genetics, 10(3), 149-151.

Ujike, H., Takaki, M., Nakata, K., Tanaka, Y., Takeda, T., Kodama, M., … Kuroda, S. (2002). CNR1, central cannabinoid receptor gene, associated with susceptibility to hebephrenic schizophrenia. Molecular Psychiatry, 7(5), 515-518. DOI: 10.1038/sj.mp.4001029

Valerio, D., Raventos, H., Schmeidler, J., Beeri, M. S., Villalobos, L. M., Bolaños-Palmieri, P., … Silverman, J. M. (2014). Association of Apolipoprotein E-e4 and Dementia Declines with Age. The American Journal of Geriatric Psychiatry: Official Journal of the American Association for Geriatric Psychiatry, 22(10), 957-960. DOI: 10.1016/j.jagp.2014.03.008

van Grootheest, D. S., Cath, D. C., Beekman, A. T., & Boomsma, D. I. (2005). Twin studies on obsessive-compulsive disorder: a review. Twin Research and Human Genetics, 8(5), 450-458. DOI: 10.1375/183242705774310060

Veltman, J. A., & Brunner, H. G. (2012). De novo mutations in human genetic disease. Nature Reviews. Genetics, 13(8), 565-575. DOI: 10.1038/nrg3241

Visscher, P. M., Wray, N. R., Zhang, Q., Sklar, P., McCarthy, M. I., Brown, M. A., & Yang, J. (2017). 10 Years of GWAS Discovery: Biology, Function, and Translation. The American Journal of Human Genetics, 101(1), 5-22. DOI: 10.1016/j.ajhg.2017.06.005

Vos, T., Flaxman, A. D., Naghavi, M., Lozano, R., Michaud, C., Ezzati, M., … Memish, Z. A. (2012). Years lived with disability (YLDs) for 1160 sequelae of 289 diseases and injuries 1990-2010: a systematic analysis for the Global Burden of Disease Study 2010. Lancet, 380(9859), 2163-2196. DOI: 10.1016/S0140-6736(12)61729-2

Walss-Bass, C., Escamilla, M. A., Raventos, H., Montero, A. P., Armas, R., Dassori, A., … Almasy, L. (2005). Evidence of genetic overlap of schizophrenia and bipolar disorder: linkage disequilibrium analysis of chromosome 18 in the Costa Rican population. American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics, 139B(1), 54-60. DOI: 10.1002/ajmg.b.30207

Walss-Bass, C., Liu, W., Lew, D., Villegas, R., Montero, P., Dassori, A., … Raventos, H. (2006). A novel missense mutation in the transmembrane domain of neuregulin 1 is associated with schizophrenia. Biological Psychiatry, 60(6), 548-553. DOI: 10.1016/j.biopsych.2006.03.017

Walss-Bass, C., Montero, A., Armas, R., Dassori, A., Contreras, S., Liu, W., … Escamilla, M. (2006). Linkage disequilibrium analyses in the Costa Rican population suggests discrete gene loci for schizophrenia at 8p23.1 and 8q13.3. Psychiatric Genetics, 16(4), 159-168. DOI: 10.1097/01.ypg.0000218616.27515.67

Walss-Bass, C., Raventos, H., Montero, A. P., Armas, R., Dassori, A., Contreras, S., … Escamilla, M. A. (2006). Association analyses of the neuregulin 1 gene with schizophrenia and manic psychosis in a Hispanic population. Acta Psychiatrica Scandinavica, 113(4), 314-321. DOI: 10.1111/j.1600-0447.2005.00631.x

Walss-Bass, C., Soto-Bernardini, M. C., Johnson-Pais, T., Leach, R. J., Ontiveros, A., Nicolini, H., … Raventos, H. (2009). Methionine sulfoxide reductase: a novel schizophrenia candidate gene. American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics, 150B(2), 219-225. DOI: 10.1002/ajmg.b.30791

Warburton, A., Breen, G., Rujescu, D., Bubb, V. J., & Quinn, J. P. (2015). Characterization of a REST-Regulated Internal Promoter in the Schizophrenia Genome-Wide Associated Gene MIR137. Schizophrenia Bulletin, 41(3), 698-707. DOI: 10.1093/schbul/sbu117

Wesseling, C., Román, N., Quirós, I., Páez, L., García, V., Mora, A. M., … Steenland, K. N. (2013). Parkinson’s and Alzheimer’s diseases in Costa Rica: a feasibility study toward a national screening program. Global Health Action, 6(3), 23061. DOI: 10.3402/gha.v6i0.23061

Williams, H. J., Norton, N., Dwyer, S., Moskvina, V., Nikolov, I., Carroll, L., … O’Donovan, M. C. (2011). Fine mapping of ZNF804A and genome-wide significant evidence for its involvement in schizophrenia and bipolar disorder. Molecular Psychiatry, 16(4), 429-441. DOI: 10.1038/mp.2010.36

Williams, N. M., Preece, A., Spurlock, G., Norton, N., Williams, H. J., Zammit, S., … Owen, M. J. (2003). Support for genetic variation in neuregulin 1 and susceptibility to schizophrenia. Molecular Psychiatry, 8(5), 485-487. DOI: 10.1038/sj.mp.4001348

Wray, N. R., & Gottesman, I. I. (2012). Using summary data from the danish national registers to estimate heritabilities for schizophrenia, bipolar disorder, and major depressive disorder. Frontiers in Genetics, 3(July), 118. DOI: 10.3389/fgene.2012.00118

Xu, W., Cohen-Woods, S., Chen, Q., Noor, A., Knight, J., Hosang, G., … Vincent, J. B. (2014). Genome-wide association study of bipolar disorder in Canadian and UK populations corroborates disease loci including SYNE1 and CSMD1. BMC Medical Genetics, 15, 2. DOI: 10.1186/1471-2350-15-2

Yu, D., Mathews, C. A., Scharf, J. M., Neale, B. M., Davis, L. K., Gamazon, E. R., … Pauls, D. L. (2015). Cross-disorder genome-wide analyses suggest a complex genetic relationship between Tourette’s syndrome and OCD. The American Journal of Psychiatry, 172(1), 82–93. DOI: 10.1176/appi.ajp.2014.13101306

Zhang, R., Valenzuela, R. K., Lu, S., Meng, L., Guo, T., Du, X., … Ma, J. (2011). Is the conserved mammalian region of ZNF804A locus associated with schizophrenia? A population-based genetics analysis. Schizophrenia Research, 133(1-3), 159-164. DOI: 10.1016/j.schres.2011.09.012

Zhang, R., Yan, J.-D., Valenzuela, R. K., Lu, S.-M., Du, X.-Y., Zhong, B., … Ma, J. (2012). Further evidence for the association of genetic variants of ZNF804A with schizophrenia and a meta-analysis for genome-wide significance variant rs1344706. Schizophrenia Research, 141(1), 40-47. DOI: 10.1016/j.schres.2012.07.013

Zhao, H., & Nyholt, D. R. (2017). Gene-based analyses reveal novel genetic overlap and allelic heterogeneity across five major psychiatric disorders. Human Genetics, 136(2), 263-274. DOI: 10.1007/s00439-016-1755-6

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