Tian Chao, Plenge Robert M, Ransom Michael, Lee Annette, Villoslada Pablo, Selmi Carlo, Klareskog Lars, Pulver Ann E, Qi Lihong, Gregersen Peter K, Seldin Michael F
Rowe Program in Human Genetics, University of California Davis, Davis, California, United States of America.
PLoS Genet. 2008 Jan;4(1):e4. doi: 10.1371/journal.pgen.0040004.
European population genetic substructure was examined in a diverse set of >1,000 individuals of European descent, each genotyped with >300 K SNPs. Both STRUCTURE and principal component analyses (PCA) showed the largest division/principal component (PC) differentiated northern from southern European ancestry. A second PC further separated Italian, Spanish, and Greek individuals from those of Ashkenazi Jewish ancestry as well as distinguishing among northern European populations. In separate analyses of northern European participants other substructure relationships were discerned showing a west to east gradient. Application of this substructure information was critical in examining a real dataset in whole genome association (WGA) analyses for rheumatoid arthritis in European Americans to reduce false positive signals. In addition, two sets of European substructure ancestry informative markers (ESAIMs) were identified that provide substantial substructure information. The results provide further insight into European population genetic substructure and show that this information can be used for improving error rates in association testing of candidate genes and in replication studies of WGA scans.
在一组超过1000名欧洲裔个体中研究了欧洲人群遗传亚结构,每个个体均采用超过30万个单核苷酸多态性(SNP)进行基因分型。结构分析(STRUCTURE)和主成分分析(PCA)均显示,最大的分类/主成分(PC)将北欧血统与南欧血统区分开来。第二主成分进一步将意大利、西班牙和希腊个体与阿什肯纳兹犹太血统个体区分开来,并区分了北欧人群。在对北欧参与者的单独分析中,发现了其他亚结构关系,呈现出从西到东的梯度。在对欧裔美国人类风湿关节炎全基因组关联(WGA)分析的真实数据集进行检查时,应用这种亚结构信息对于减少假阳性信号至关重要。此外,还鉴定出两组欧洲亚结构祖先信息标记(ESAIM),它们提供了大量的亚结构信息。这些结果为欧洲人群遗传亚结构提供了进一步的见解,并表明该信息可用于提高候选基因关联测试和WGA扫描重复研究中的错误率。