DESCRIPTION:

List of positional candidate genes after correcting for multiple testing and controlling the false discovery rate from genome wide association studies (GWAS) retrieved from the NHGRI-EBI Catalog of published genome-wide association studies (http://www.ebi.ac.uk/gwas/). The disease/trait examined in this study, as reported by the authors, was Ankylosing spondylitis. The EFO term ankylosing spondylitis was annotated to this set after curation by NHGRI-EBI. Intergenic SNPS were mapped to both the upstream and downstream gene. P-value uploaded. This gene set was generated using gwas2gs v. 0.1.8 and the GWAS Catalog v. 1.0.1.

LABEL:

GWAS: ankylosing spondylitis

SCORE TYPE:

P-Value

DATE ADDED:

2017-05-02

DATE UPDATED:

2024-04-25

SPECIES:

AUTHORS:

Z Lin, JX Bei, M Shen, Q Li, Z Liao, Y Zhang, Q Lv, Q Wei, HQ Low, YM Guo, S Cao, M Yang, Z Hu, M Xu, X Wang, Y Wei, L Li, C Li, T Li, J Huang, Y Pan, O Jin, Y Wu, J Wu, Z Guo, P He, S Hu, H Wu, H Song, F Zhan, S Liu, G Gao, Z Liu, Y Li, C Xiao, J Li, Z Ye, W He, D Liu, L Shen, A Huang, H Wu, Y Tao, X Pan, B Yu, ES Tai, YX Zeng, EC Ren, Y Shen, J Liu, J Gu

TITLE:

A genome-wide association study in Han Chinese identifies new susceptibility loci for ankylosing spondylitis.

JOURNAL:

Nature genetics Dec 2011, Vol 44, pp. 73-7

ABSTRACT:

To identify susceptibility loci for ankylosing spondylitis, we performed a two-stage genome-wide association study in Han Chinese. In the discovery stage, we analyzed 1,356,350 autosomal SNPs in 1,837 individuals with ankylosing spondylitis and 4,231 controls; in the validation stage, we analyzed 30 suggestive SNPs in an additional 2,100 affected individuals and 3,496 controls. We identified two new susceptibility loci between EDIL3 and HAPLN1 at 5q14.3 (rs4552569; P = 8.77 × 10(-10)) and within ANO6 at 12q12 (rs17095830; P = 1.63 × 10(-8)). We also confirmed previously reported associations in Europeans within the major histocompatibility complex (MHC) region (top SNP, rs13202464; P < 5 × 10(-324)) and at 2p15 (rs10865331; P = 1.98 × 10(-8)). We show that rs13202464 within the MHC region mainly represents the risk effect of HLA-B*27 variants (including HLA-B*2704, HLA-B*2705 and HLA-B*2715) in Chinese. The two newly discovered loci implicate genes related to bone formation and cartilage development, suggesting their potential involvement in the etiology of ankylosing spondylitis. PUBMED: 22138694
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