Análise da causalidade no estudo genético dos transtornos neuropsiquiátricos: revisão narrativa
Barra lateral de artigos
Como Citar
Esta obra está licenciado com uma Licença Creative Commons Attribution 3.0 Unported License.
##plugins.themes.bootstrap3.displayStats.downloads##
Societal impact
Conteúdo do artigo principal
Resumo
Os transtornos neuropsiquiátricos se caracterizam por formas complexas de transmissão genética. O conhecimento dos aspectos básicos dos desenhos metodológicos mais usados na investigação sobre a genética destes transtornos permite ao clínico uma busca mais eficaz da literatura disponível, assim como uma melhora na leitura crítica e na aplicação prática dos artigos sobre esta área do conhecimento. Esta revisão tem como objetivo descrever os desenhos estatísticos-epidemiológicos mais utilizados neste âmbito e ilustrar dita descrição com alguns exemplos. Em concreto, se revisam aspectos metodológicos gerais sobre os estudos de gêmeos, os estudos de adoção, análise de pedigrees, estudos de associação (casos e controles) e análise de ligamento genético.
Detalhes do artigo
Referências
Burmeister M. Basic concepts in the study of diseases with complex genetics. Biol Psychiatry 1999; 45:522-532.
Moran P, Stokes J, Marr J, Bock G, Desbonnet L, Waddington J, et al. Gene x environment interactions in schizophrenia: evidence from genetic mouse models. Neural Plast 2016; 2016:2173748.
Martínez L, Palomino HM, De Barbieri Z, Villanueva P. Bases genéticas del trastorno específico del lenguaje. Revista Chilena de Fonoaudiología. 2004; 4:37-49.
Khoury MJ, Beaty TH, Cohen BH. Fundamentals of genetic epidemiology. New York: Oxford University Press; 1993.
Pierce BA. Genética. 5a ed. Madrid: Panamericana; 2016.
Cardon LR, Bell JI. Association study designs for complex siseases. Nat Rev Genet 2001; 2:91-99.
Risch NJ. Searching for genetic determinants in the new millennium. Nature 2000; 405:847-856.
Farrer LA, Cupples LA, Haines JL, Hyman B, Kukull WA, Mayeux R, et al. Effects of age, sex, and ethnicity on the association between apolipoprotein E genotype and Alzheimer disease: a meta-analysis. JAMA 1997; 278:1349-56.
Sullivan PF, Eaves LJ, Kendler KS, Neale MC. Genetic case-control association studies in neuropsychiatry. Arch Gen Psychiatry 2001; 58:1015-1024.
Ruiz AJ, Gómez-Restrepo C. Epidemiología clínica. 2a ed. Bogotá: Panamericana; 2015.
Sanders AR, Duan J, Levinson DF, Shi J, He D, Hou C, et al. No significant association of 14 candidate genes with schizophrenia in a large European ancestry sample: implications for psychiatrc genetics. Am J Psychiatry 2008; 165:497-506.
Kendler KS. Twin studies or psychiatric, an update. Arch Gen Psychiatry. 2001; 4:1005-1014.
Delgado-Rodriguez M, Llorca J. Bias. J Epidemiol Community Health 2004; 58:635-641.
Hawkes CH. Twin studies in medicine-what do they tell us? Q J Med 1997; 90:311-321.
Lykken DT, McGue M, Tellegen A. Recruitment bias in twin research: the rule of two-thirds reconsidered. Behav Genet 1987; 17:343-362.
Wyszynski DF. La epidemiología genética: disciplina científica en expansión. Rev Panam Salud Pública 1998; 3:26-34.
Mcguffin P, Katz R. Who believes in estimating heritability as an end to itself? Behave Brain Sci 1990; 13:141-142.
Franco JG, Gaviria AM, Torres Y, Cotes JM. Regresión logística en la literatura psiquiátrica: evaluación de los artículos publicados entre 2002 y 2005 en una prominente revista. Revista Brasileira de Epidemiologia 2007; 10(3):370-379.
Rose RJ, Dick DM, Viken RJ. Exploring gene-environment interaction in patterns of adolescent drinking: regional residency moderates longitudinal influences on alcohol use. Alcohol Clin Exp Res 2001; 25:637-643.
Dick DM, Rose RJ, Viken RJ. Exploring gene-environment interaction: socioregional moderation of alcohol use. J Abnorm Psychol 2001; 110:625-632.
Bronfenbrenner U, Ceci SJ. Nature-nurture reconceptualized in developmental perspective: a bioecological model. Psychol Rev 1995; 101:568-586.
Tsuang MT, Bar JL, Stone WS, Faraone SV. Gene-environment interactions in mental disorders. World Psychiatry 2004; 3:73-83.
Franco JG, Valero J, Labad-Alquézar A. Anomalías físicas menores y características clínicas en pacientes con trastornos del espectro de la esquizofrenia. Rev Neurol 2012; 54(8):468–474.
Tienari P. Interaction between genetic vulnerability and family environment: the Finnish adoptive family study of schizophrenia. Acta Psychiatr Scand 1991; 84:460-465.
Tienari P, Wynne LC, Sorri A, Lahti I, Laksy K, Moring J, et al. Genotipe-environment interaction inschizophrenia-spectrum disorder. Long-term follow-up study of Finnish adoptees. Br J Psychiatry 2004; 184:216-222.
Steinhaus KA, Bennett RL, Resta RG, Uhrich SB, Doyle DL, Markel DS, et al. Inconsistencies in pedigree symbols in human genetics publications: A need for standardization. Am J Med Genet 1995; 56:291-295.
Patton MA. Genetic studies in the Amish community. Annals of Human Biology 2005; 163-167.
Agarwala R, Biesecker LG, Schaffer AA. Anabaptist genealogy database. Am J Med Genet 2003; 121:32-37.
Peltonen L. Positional cloning of disease genes: Advantages of genetic isolates. Hum Hered 2000; 50:66-75.
Arcos-Burgos M, Muenke M. Genetics of population isolates. Clin Genet 2002; 61:233-247.
Escamilla MA. Population isolates: Their special value for locating genes for bipolar disorder. Bipolar Disorders 2001; 3:299-317.
Escamilla MA, Spesny M, Reus IV. Use of linkage disequilibrium approaches to pam genes for bipolar disorder in the Costa Rican population. Am J Med Genet 1996; 67:244-253.
Freimer NB, Reus IV, Escamilla M. Genetic maping using haplotype association and linkage methods suggests a locus for severe bipolar disorder (BP I) at 18q22-18q23. Nat Genet 1996; 12:436-41.
Raventos H, Escamilla M, Montero P. Phenotypic definition of schizophrenia in the Costa Rican population: diagnostic and assessment issues. Mol Psychiatry 1999; 4:541.
McInnes LA, Escamilla MA, Service SK. A complete genome screen for bipolar disorder in two Costa Rican pedigrees. Proc Natl Acad Sci USA 1996; 93:13060-13065.
Croze M, Wollstein A, Božičević V, Živković D, Stephan W, Hutter S. A genome-wide scan for genes under balancing selection in Drosophila melanogaster. BMC Evol Biol 2017; 17(1):15.
Borecki IB, Suarez BK. Linkage and association: Basic concepts. Adv Genet 2001; 42:45-66.
Suarez BK, Rice J, Reich T. The generalized sib par IBD distributions: its use in the detection of linkage. Ann Hum Genet (London) 1978; 42:87-94.
Suarez BK, Van Eerdewegh P. A comparison of three affected-sib-pair scoring methods to detect HLAlinked disease susceptibility genes. Am J Med Genet 1984; 18:135-146.
Risch N. Linkage strategies for genetically complex traits. I. Multilocus models. Am J Hum Genet 1990; 46:222-228.
Kruglyak L, Daly MJ, Reeve-Daly MP, Lander ES. Parametric and nonparametric linkage analysis: A unified multipoint approach. Am J Hum Genet 1996; 58:1347-1363.
Serreti A, Mandelli L. The genetics of bipolar disorder: genome “hot regions,” genes, new potencial candidates and future directions. Mol Psychiatry 2008; 13(8):742-771.
Hanna GL, Veenstra-Vanderweele J, Cox NJ, Van Etten M, Fischer DJ, Himle JA, et al. Evidence for a susceptibility locus on chromosome 10p15 in early-onset obsessive-compulsive disorder. Biol Psychiatry 2007; 62:856-862.
Chen CX, Dan-Sung CC, Wang Q, Lai F, Carter KC, Nishikura K. A third member of the RNA-specific adenosine deaminase gene family, ADAR3, contains both single- and double-standed RNA binding domains. RNA 2000; 6:755-767.