title: Association of variants in 21q22 with ankylosing spondylitis in the Chinese Guangxi Zhuang population.
abstract: Genome-wide association study has reported a number of genes as being associated with ankylosing spondylitis (AS) in Caucasian European populations and Chinese Han population. The aim of the study was to investigate whether single nucleotide polymorphisms (SNPs) covering the 21q22 region are associated with AS in the Chinese Guangxi Zhuang population. A case-control study was performed in unrelated patients with AS (n = 315) and age-, sex-, and ethnicity-matched controls (n = 630) from Guangxi Zhuang ethnic group. All patients met the modified New York criteria for AS. TaqMan genotyping assay was used to genotype cases and controls for 17 tag SNPs covering 21q22. After multiple-testing correction, significant association with AS was not observed in all SNP, but one block haplotype was significantly associated with AS. The pairwise analysis of the rs8126528/rs2150414/rs6517532 alleles found that the G-A-A haplotype (OR 2.92, 95 % CI 1.48-3.55; p = 0.0002, permuted p = 0.0332) significantly increased the risk of AS in comparison with the G-A-G, A-A-A and G-G-A carriers. In conclusion, the study results define a novel risk haplotypes in 21q22 that was associated with AS in the Chinese Guangxi Zhuang population. The findings was consistent with previous genetic and functional studies that point at variants of the BRWD1 and/or PSMG1 loci as interesting genetic factors contributing to AS.
authors.affiliation: Department of Orthopedics, The First Affiliated Hospital of Gaungxi Medical University, 22 Shuangyong Road Nanning, Nanning, 530022, Guangxi, China.
authors.forename: Jinsong
authors.initials: J
authors.lastname: Yang
authors.forename: Qian
authors.initials: Q
authors.lastname: Zhao
authors.forename: Chuangye
authors.initials: C
authors.lastname: Han
authors.forename: Chunjie
authors.initials: C
authors.lastname: Zhao
authors.forename: Li
authors.initials: L
authors.lastname: Zheng
authors.forename: Xin
authors.initials: X
authors.lastname: Zhang
authors.forename: Liumei
authors.initials: L
authors.lastname: Liu
authors.forename: Heyu
authors.initials: H
authors.lastname: Wei
authors.forename: Fanyue
authors.initials: F
authors.lastname: Zeng
authors.forename: Yuan
authors.initials: Y
authors.lastname: Yang
authors.forename: Wei
authors.initials: W
authors.lastname: Su
authors.forename: Qikai
authors.initials: Q
authors.lastname: Hua
authors.forename: Xinli
authors.initials: X
authors.lastname: Zhan
authors.forename: Qianfen
authors.initials: Q
authors.lastname: Chen
authors.forename: Tingsong
authors.initials: T
authors.lastname: Li
authors.forename: Jun
authors.initials: J
authors.lastname: Liao
authors.forename: Hao
authors.initials: H
authors.lastname: Wu
authors.forename: Jinmin
authors.initials: J
authors.lastname: Zhao
mesh_terms: D000293:Adolescent; D000328:Adult; D044466:Asian People / Q000235:genetics*; D016022:Case-Control Studies; D002681:China / Q000453:epidemiology; D002891:Chromosomes, Human, Pair 21; D005260:Female; D005787:Gene Frequency; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D006239:Haplotypes; D006801:Humans; D008297:Male; D016017:Odds Ratio; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide; D012307:Risk Factors; D013167:Spondylitis, Ankylosing / Q000175:diagnosis / Q000208:ethnology / Q000235:genetics*; D055815:Young Adult