Association of variants in 21q22 with ankylosing spondylitis in the Chinese Guangxi Zhuang population
Association of variants in 21q22 with ankylosing spondylitis in the Chinese Guangxi Zhuang population
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DOI：
10.1007/s00296-014-2973-7
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发表时间：
2014-03
影响因子：
4
通讯作者：
Jinsong Yang;Qian Zhao;Chuangye Han;Chunjie Zhao;Li Zheng;Xin Zhang;Liumei Liu;H. Wei;F. Zeng;Yuan Yang;Wei Su;Qikai Hua;Xinli Zhan;Qianfen Chen;Tingsong Li;J. Liao;Hao Wu;Jinmin Zhao
中科院分区：
文献类型：
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作者：
Jinsong Yang;Qian Zhao;Chuangye Han;Chunjie Zhao;Li Zheng;Xin Zhang;Liumei Liu;H. Wei;F. Zeng;Yuan Yang;Wei Su;Qikai Hua;Xinli Zhan;Qianfen Chen;Tingsong Li;J. Liao;Hao Wu;Jinmin Zhao
全基因组关联研究报告了许多基因与欧洲高加索人群和中国汉族人群中的强直性脊柱炎（AS）相关。本研究的目的是调查覆盖 21q22 区域的单核苷酸多态性 (SNP) 是否与中国广西壮族人群中的 AS 相关。对来自广西壮族的无关 AS 患者 (n= 315) 和年龄、性别和种族匹配的对照 (n= 630) 进行了病例对照研究。所有患者均符合修订后的纽约 AS 标准。 TaqMan 基因分型测定用于对覆盖 21q22 的 17 个标签 SNP 的病例和对照进行基因分型。经过多重检验校正，所有SNP均未观察到与AS显着相关，但有1个区块单倍型与AS显着相关。 rs8126528/rs2150414/rs6517532 等位基因的成对分析发现，与 G-A-G、A-A-A 相比，G-A-A 单倍型（OR 2.92，95% CI 1.48–3.55；p=0.0002，排列 p=0.0332）显着增加 AS 风险和 G-G-A 运营商。总之，研究结果定义了 21q22 中与中国广西壮族人群 AS 相关的新风险单倍型。该发现与之前的遗传和功能研究一致，这些研究指出 BRWD1 和/或 PSMG1 基因座的变异是导致 AS 的有趣遗传因素。
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 the21q22region 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 covering21q22. 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, permutedp= 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 in21q22that 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.