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

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

Wei Chai  1 , Zijian Lian, Chao Chen, Jingyi Liu, Lewis L Shi, Yan Wang
Affiliations

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

Wei Chai et al. PLoS One. .

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.

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Conflict of interest statement

Competing Interests: The authors have declared that no competing interests exist.

Figures

Figure 1
Figure 1. Positions of each selected tagSNP on the genes.
The SNP rs16876657 is in the exon 7 of JMY, the SNP rs10440635, rs4957341, rs4133101 are in the promoter of PTGER4, other SNPs are all in introns.
Figure 2
Figure 2. Linkage disequilibrium (LD) map comparing all AS patients and controls.
Darker color indicates higher linkage disequilibrium (LD), lighter color indicates less LD. Numbers in the squares indicate correlation coefficient (R2) value. The left part of the picture contains 4 SNPs (from rs11062357 to rs4980880). They are from JARID1A. The middle part of the picture contains 5 SNPs (from rs10440635 to rs4383756). They are from PTGER4. The right part of the picture contains 4 SNPs (from rs2607142 to rs16876657). They are from JMY. Haplotypes are constructed from the darker blocks (high linkage disequilibrium). Haplotypes are constructed from each blocks, the details of haplotypes are summarized in Table S4. Block 2 contains rs4133101 rs4546432 and rs4383756 SNPs in PTGER4. CTT frequency is higher than controls (p=6.266×10-8).
See this image and copyright information in PMC

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