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1、Genetic Epidemiology M. Tevfik DORAK,Disease characteristics: Familial clustering: Genetic or environmental: Mode of inheritance: Disease susceptibility loci: Disease susceptibility markers:,Descriptive epidemiology Family aggregation studies Twin/adoption/half-sibling/migrant studies Segregation an
2、alysis Linkage analysis Association studies,GENETIC EPIDEMIOLOGY Flow of research,http:/ 铜球阀 截止阀 蝶阀 http:/,* nuclear families (index case and parents) * affected relative pairs (sibs, cousins, any two members of the family) * extended pedigrees * twins (monozygotic and dizygotic) * unrelated populat
3、ion samples,Study Designs in Genetic Epidemiology,Disease characteristics: Familial clustering: Genetic or environmental: Mode of inheritance: Disease susceptibility loci: Disease susceptibility markers:,Descriptive epidemiology Family aggregation studies Twin/adoption/half-sibling/migrant studies S
4、egregation analysis Linkage analysis Association studies,GENETIC EPIDEMIOLOGY Flow of research,Curnow 138:139-169,Sibling Recurrence Risk / Sibling Risk Ratio (lS ),Disease characteristics: Familial clustering: Genetic or environmental: Mode of inheritance: Disease susceptibility loci: Disease susce
5、ptibility markers:,Descriptive epidemiology Family aggregation studies Twin/adoption/half-sibling/migrant studies Segregation analysis Linkage analysis Association studies,GENETIC EPIDEMIOLOGY Flow of research,(MacGregor, 2000),Adoption Studies 1. Compare the risk in biological relatives with adopte
6、d relatives of affected adoptees (beware of adoption bias) 2. Compare the risk in biological relatives with adopted relatives of unaffected adoptees,Disease characteristics: Familial clustering: Genetic or environmental: Mode of inheritance: Disease susceptibility loci: Disease susceptibility marker
7、s:,Descriptive epidemiology Family aggregation studies Twin/adoption/half-sibling/migrant studies Segregation analysis Linkage analysis Association studies,GENETIC EPIDEMIOLOGY Flow of research,Modes of inheritance,Disease characteristics: Familial clustering: Genetic or environmental: Mode of inher
8、itance: Disease susceptibility loci: Disease susceptibility markers:,Descriptive epidemiology Family aggregation studies Twin/adoption/half-sibling/migrant studies Segregation analysis Linkage analysis Association studies,GENETIC EPIDEMIOLOGY Flow of research,Differences between linkage and associat
9、ion,Risch NJ. Nature 2000,Disease characteristics: Familial clustering: Genetic or environmental: Mode of inheritance: Disease susceptibility loci: Disease susceptibility markers:,Descriptive epidemiology Family aggregation studies Twin/adoption/half-sibling/migrant studies Segregation analysis Linkage analysis Association studies,GENETIC EPIDEMIOLOGY Flow of research,Association Studies Population-based Cases and unrelated population controls from the same study base Family-based Child-family trios and TDT design is the most common,