title: A genome-wide association study in Han Chinese identifies new susceptibility loci for ankylosing spondylitis.
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.
authors.affiliation: Department of Rheumatology, The Third Affiliated Hospital of Sun Yat-sen University, Guangzhou, China.
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authors.lastname: Liu
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authors.lastname: Tai
authors.forename: Yi-Xin
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authors.lastname: Zeng
authors.forename: Ee Chee
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authors.lastname: Ren
authors.forename: Yan
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authors.lastname: Shen
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mesh_terms: D044466:Asian People / Q000235:genetics*; D016022:Case-Control Studies; D002889:Chromosomes, Human, Pair 2; D002895:Chromosomes, Human, Pair 5; D020022:Genetic Predisposition to Disease; D055106:Genome-Wide Association Study; D006801:Humans; D008285:Major Histocompatibility Complex; D020641:Polymorphism, Single Nucleotide; D013167:Spondylitis, Ankylosing / Q000235:genetics*; D054928:Validation Studies as Topic; D044465:White People