Genetic risk prediction in a small cohort of healthy adults in Atlanta.
Genetic risk prediction in a small cohort of healthy adults in Atlanta.
复制标题
亚特兰大一小群健康成年人的遗传风险预测。
DOI：
10.1017/s0016672313000025
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发表时间：
2013
影响因子：
1.5
通讯作者：
Gibson,Greg
中科院分区：
文献类型：
--
作者：
Zhao,Jing;Arafat,Dalia;Brigham,KennethL;Gibson,Greg
Compared with single markers, polygenic scores that evaluate the joint effects of multiple trait-associated variants are more effective in explaining the variance of traits and risk of diseases. In total, 182 CHDWB (Emory-Georgia Tech Center for Health Discovery and Well Being study) adults were genotyped to investigate the common variant contributions to three traits (height, BMI, serum triglycerides) and three diseases (coronary artery disease (CAD), type 2 diabetes (T2D) and asthma). Association was contrasted between weighted and simple allelic sum polygenic scores with quantitative traits, and with the Framingham risk scores for CAD and T2D. Although the cohort size is two or three orders of magnitude smaller than typical discovery cohorts, we were able to detect significant associations and to explain up to 5% of the traits by the genetic risk scores, despite a strong influence of outliers. An unexpected finding was that CAD-associated single nucleotide polymorphisms (SNPs) explain a significant amount of the variation for total serum cholesterol. Forward step-wise sequential addition of SNPs into the regression model showed that the top-ranked SNPs explain a large proportion of variance, whereas inclusion of gender and ethnicity also affect the performance of polygenic scores.
