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

Nat Genet. 2011 Dec 4;44(1):73-7. doi: 10.1038/ng.1005.


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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Asian People / genetics*
  • Case-Control Studies
  • Chromosomes, Human, Pair 2
  • Chromosomes, Human, Pair 5
  • Genetic Predisposition to Disease*
  • Genome-Wide Association Study
  • Humans
  • Major Histocompatibility Complex
  • Polymorphism, Single Nucleotide
  • Spondylitis, Ankylosing / genetics*
  • Validation Studies as Topic
  • White People