JARID1A, JMY, and PTGER4 polymorphisms are related to ankylosing spondylitis in Chinese Han patients: a case-control study

PLoS One. 2013 Sep 19;8(9):e74794. doi: 10.1371/journal.pone.0074794. eCollection 2013.

Abstract

Susceptibility to ankylosing spondylitis (AS) is largely genetically determined. JARID1A, JMY and PTGER4 have recently been found to be associated with AS in patients of western European descent. We aim to examine the influence of JARID1A, JMY, and PTGER4 polymorphisms on the susceptibility to and the severity of ankylosing spondylitis in Chinese ethnic majority Han population. This work can lead the clinical doctors to intervene earlier. Blood samples were drawn from 396 AS patients and 404 unrelated healthy controls. Both the AS patients and the controls are Han Chinese. The AS patients are classified based on the severity of the disease. Thirteen tag single nucleotide polymorphisms (tagSNPs) in JARID1A, JMY and PTGER4 are selected and genotyped. Frequencies of different genotypes and alleles are analyzed among the different severity AS patients and the controls. The rs2284336 SNP in JARID1A, the rs16876619 and rs16876657 SNPs in JMY are associated with susceptibility of AS. The rs11062357 SNP in JARID1A, the rs2607142 SNP in JMY and rs10440635 in PTGER4 are related to severity of AS. Haplotype analyses indicate PTGER4 is related to susceptibility to AS; JARID1A and JMY are related to severity of AS.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Alleles
  • Asian People
  • Case-Control Studies
  • China
  • Female
  • Gene Order
  • Genetic Predisposition to Disease
  • Genotype
  • Haplotypes
  • Humans
  • Linkage Disequilibrium
  • Male
  • Nuclear Proteins / genetics*
  • Polymorphism, Single Nucleotide*
  • Receptors, Prostaglandin E, EP4 Subtype / genetics*
  • Retinoblastoma-Binding Protein 2 / genetics*
  • Spondylitis, Ankylosing / genetics*
  • Trans-Activators / genetics*
  • Young Adult

Substances

  • JMY protein, human
  • Nuclear Proteins
  • PTGER4 protein, human
  • Receptors, Prostaglandin E, EP4 Subtype
  • Trans-Activators
  • KDM5A protein, human
  • Retinoblastoma-Binding Protein 2

Grants and funding

This work was supported by the Natural Science Foundation of Beijing (7102146). The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.