11q21区段与中国汉族人群Graves病相关性研究

目的:在中国人群中验证Cooper团队在欧洲人群中鉴定的新的Graves病(Graves'disease,GD)易感区段11q21与中国汉族人群GD的相关性。方法:在前期1442例GD患者和1468例正常对照的GWAS数据基础上通过11q21区段精细定位选取主效位点,利用Taqman探针技术进行等位基因分析,在1594例GD患者和1679例正常对照中进行扩大样本验证,然后将两个阶段的结果合并分析并得出11q21区段与GD的相关性结果。结果:验证阶段11q21的rs12575636与GD相关的P值为2.98×10~(-5)(OR=1.42,95%CI=1.20-1.67),GWAS阶段和验证阶段合并后11q21的rs12575636与GD相关的P值达到1.26×10~(-6)(OR=1.35,95%CI=1.19-1.51)。结论:11q21的rs12575636与中国汉族人群GD显著相关,11q21的rs12575636是中国汉族人GD的易感位点。

An Association Study of 11q21 with Graves' Disease in Chinese Han Population

ABSTRACT Objective: To confirm the association of 11q21 which was newly identified in the Europeans by cooper et al with Graves''disease (GD) in Chinese Han population. Methods: Based on our previous GWAS data of 1442 GD patient and 1468 controls, dense mapping analysis of 11q21 region was performed to select the independent effective SNP, which was further genotyped in 1594 GD patients and 1679 controls by use of taqman probes. Then combined analysis of both GWAS and confirmed stages was performed to generate the association result of 11q21 with GD. Results: In the confirmed genotying study, rs12575636 was genotyped in 1594 Chinese GD patients and 1679 controls (P=2.98×10^-5, OR=1.42, 95% CI=1.20-1.67). The association rs12575636 in 11q21 with GD was con- firmed in combined Chinese cohorts (P=1.26×10^-6, OR=1.35, 95% CI=1.19-1.51). Conclusion: rs12575636 in 11q21 was associated with GD in Chinese cohort, 11q21 is also a susceptibility locus of GD in Chinese Han population.