生物
全基因组关联研究
单核苷酸多态性
肾病
主要组织相容性复合体
基因
遗传学
免疫学
遗传关联
基因型
内分泌学
糖尿病
作者
Xue Qing Yu,Ming Li,Hong Zhang,Hui Qi Low,Xin Wei,Jin Quan Wang,Liang Dan Sun,Kar Seng Sim,Yi Li,Jia Nee Foo,Wei Wang,Zhi Jian Li,Xian Yin,Xue Qing Tang,Li Fan,Jian Chen,Rong Shan Li,Jian Xin Wan,Zhang Suo Liu,Tan Qi Lou
出处
期刊:Nature Genetics
[Nature Portfolio]
日期:2011-12-25
卷期号:44 (2): 178-182
被引量:283
摘要
We performed a two-stage genome-wide association study of IgA nephropathy (IgAN) in Han Chinese, with 1,434 affected individuals (cases) and 4,270 controls in the discovery phase and follow-up of the top 61 SNPs in an additional 2,703 cases and 3,464 controls. We identified associations at 17p13 (rs3803800, P = 9.40 × 10(-11), OR = 1.21; rs4227, P = 4.31 × 10(-10), OR = 1.23) and 8p23 (rs2738048, P = 3.18 × 10(-14), OR = 0.79) that implicated the genes encoding tumor necrosis factor (TNFSF13) and α-defensin (DEFA) as susceptibility genes. In addition, we found multiple associations in the major histocompatibility complex (MHC) region (rs660895, P = 4.13 × 10(-20), OR = 1.34; rs1794275, P = 3.43 × 10(-13), OR = 1.30; rs2523946, P = 1.74 × 10(-11), OR = 1.21) and confirmed a previously reported association at 22q12 (rs12537, P = 1.17 × 10(-11), OR = 0.78). We also found that rs660895 was associated with clinical subtypes of IgAN (P = 0.003), proteinuria (P = 0.025) and IgA levels (P = 0.047). Our findings show that IgAN is associated with variants near genes involved in innate immunity and inflammation.
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