Three SNPs in chromosome 11q23.3 are independently associated with systemic lupus erythematosus in Asians
| Autor: | Dong-Qing Ye, Alexander Moon Ho Leung, Samuel Ka Shun Fung, KW Lee, Pornpimol Rianthavorn, Dingge Ying, Yu-Lung Lau, S. Zeng, Raymond Woon Sing Wong, Wai Ming Lai, Hai-Feng Pan, Nattiya Hirankarn, Shirley King Yee Ying, Sik Nin Wong, Chi Chiu Mok, Stacey S. Cherny, Mo Yin Mok, Chak Sing Lau, Xuejun Zhang, Tsz Leung Lee, Liangdan Sun, Wanling Yang, Wilfred Hing Sang Wong, Tak Mao Chan, Jing Yang, Paul K.H. Tam, Jing Zhang, Sen Yang, Lu Zhang, Thavatchai Deekajorndej, Brian H.Y. Chung, Yong Cui, Pak C. Sham, Pamela Pui Wah Lee, Chun Yin Chong, Maria-Mercè Garcia-Barceló, Vorasuk Shotelersuk, Xiang-Pei Li, Yingyos Avihingsanon, Niko Kei Chiu Tse, Kwok Lung Tong, Marco Ho, Kanya Suphapeetiporn, Yan Zhang |
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| Rok vydání: | 2013 |
| Předmět: |
Receptors
CXCR5 Single-nucleotide polymorphism Genome-wide association study Nerve Tissue Proteins Disease Biology Polymorphism Single Nucleotide DEAD-box RNA Helicases Asian People Proto-Oncogene Proteins Genetics SNP Humans Lupus Erythematosus Systemic Genetic Predisposition to Disease Molecular Biology Gene Genetics (clinical) Genetic association Chromosomes Human Pair 11 Intracellular Signaling Peptides and Proteins Chromosome Genetic Variation General Medicine Logistic Models Case-Control Studies Immunology Etiology Genome-Wide Association Study |
| Zdroj: | Human molecular genetics. 23(2) |
| ISSN: | 1460-2083 |
| Popis: | Systemic lupus erythematosus (SLE) has a complex etiology and is affected by both genetic and environmental factors. Although more than 40 loci have shown robust association with SLE, the details of these loci, such as the independent contributors and the genes involved, are still unclear. In this study, we performed meta-analysis of two existing genome-wide association studies (GWASs) on Chinese Han populations from Hong Kong and Anhui, China, and followed the findings by further replication on three additional Chinese and Thailand cohorts with a total of 4254 cases and 6262 controls matched geographically and ethnically. We discovered multiple susceptibility variants for SLE in the 11q23.3 region, including variants in/near PHLDB1 (rs11603023, P(_combined) = 1.25E-08, OR = 1.20), DDX6 (rs638893, P(_combined) = 5.19E-07, OR = 1.22) and CXCR5 (rs10892301, P(_combined) = 2.51E-08, OR = 0.85). Genetic contributions from the newly identified variants were all independent of SNP rs4639966, whose association was reported from the previous GWAS. In addition, the three newly identified variants all showed independent association with the disease through modeling by both stepwise and conditional logistic regression. The presence of multiple independent variants in this region emphasizes its role in SLE susceptibility, and also hints the possibility that distinct biological mechanisms might be involved in the disease involving this genomic region. |
| Databáze: | OpenAIRE |
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