Pathogenic variants screening in seventeen candidate genes on 2p15 for association with ankylosing spondylitis in a Han Chinese populationReport as inadecuate




Pathogenic variants screening in seventeen candidate genes on 2p15 for association with ankylosing spondylitis in a Han Chinese population - Download this document for free, or read online. Document in PDF available to download.

Objectives

Previous studies have found the association between rs10865331 in 2p15 area and ankylosing spondylitis AS. This study aimed to identify additional functional genetic variants in 2p15 region associated with AS susceptibility.

Methods

We used next generation sequencing NGS in 100 AS cases and 100 healthy controls to screen AS susceptible genetic variants, and validated these variants in 620 cases and 620 controls by using imLDRTM technique for single nucleotide polymorphism SNP genotyping.

Results

Totally, we identified 12 SNPs that might confer susceptibility to AS. Of those SNPs, three rs14170, rs2123111 and rs1729674 were nominally associated P<0.05 with AS, but were no longer statistically significant after Bonferroni correction. After stratified by gender, another two SNPs rs11428092 and rs10208769 in USP34 were associated with AS in males but not females, though this was not statistically significant after Bonferroni correction. In addition, rs1729674, rs14170, rs2123111 and rs10208769 were in strong linkage disequilibrium LD and were further enrolled in haplotype analysis. A novel haplotype TAGA was found to be associated with a decreased risk of AS odds ratio OR 95% confidence interval CI = 0.832 0.705–0.982. Beyond that, we also demonstrated a strong relationship between rs10865331 and AS susceptibility OR 95% CI = 1.3031.111–1.526.

Conclusions

rs14170 and rs2123111 inUSP34 and rs1729674 in C2orf74 may be associated with AS susceptibility in Han Chinese population. USP34 and C2orf74 in 2p15 region may be AS novel susceptibility genes.



Author: Mengmeng Wang , Lihong Xin , Guoqi Cai, Xu Zhang, Xiao Yang, Xiaona Li, Qing Xia, Li Wang, Shengqian Xu, Jianhua Xu, Zongwen Shua

Source: http://plos.srce.hr/



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