ETS1 variants confer susceptibility to ankylosing spondylitis in Han Chinese.
ETS1 variants confer susceptibility to ankylosing spondylitis in Han Chinese.
复制标题
ETS1变异导致汉族人易患强直性脊柱炎
DOI：
10.1186/ar4530
复制
发表时间：
2014-04-04
影响因子：
4.9
通讯作者：
Liu Q
中科院分区：
文献类型：
--
作者：
Shan S;Dang J;Li J;Yang Z;Zhao H;Xin Q;Ma X;Liu Y;Bian X;Gong Y;Liu Q
引言
ETS1是Th17分化基因的负调控因子，在自身免疫性疾病的发病机制中起核心作用。本研究旨在探讨中国汉族人强直性脊柱炎(AS)的易感性是否与ETS1基因的多态性有关。
方法
基于HapMap数据和先前的全基因组关联研究，我们在ETS1中选择了7个单核苷酸多态(SNPs)。来自山东省的1015名AS患者和1132名健康对照，以及来自中国西北部地区宁夏的352名AS患者和400名健康对照，采用TaqMan方法进行了基因分型。实时荧光定量聚合酶链式反应(Real-time PCR)检测基因表达。
结果
SNP rs1128334与强直性脊柱炎密切相关(优势比1.204，95%可信区间1.06~1.37；P=0.005)。这种关联在宁夏人群中存在(P=0.015)。与对照组相比，携带rs12574073、rs1128334和rs4937333的单倍型TAT携带者AS和单倍型CGC的风险增加，而风险降低。此外，强直性脊柱炎患者ETS1的表达低于正常对照组。Rs1128334的风险等位基因A、rs1128334和rs4937333的单倍型A-T与ETS1表达降低相关。
结论
Ets1基因常见变异可能与汉族中国人的AS易感性有关。
Introduction
ETS1 is a negative regulator of the Th17 differentiation gene and plays a central role in the pathogenesis of autoimmune diseases. We aimed to investigate whether polymorphisms in ETS1 confer susceptibility to ankylosing spondylitis (AS) in Han Chinese.
Methods
We selected seven single nucleotide polymorphisms (SNPs) within ETS1 based on HapMap data and previous genome-wide association study. Genotyping involved the TaqMan method in 1,015 patients with AS and 1,132 healthy controls from Shandong Province, and 352 AS patients and 400 healthy controls from Ningxia, a northwest region in China. Gene expression was determined by real-time PCR.
Results
The SNP rs1128334 was strongly associated with AS (odds ratio 1.204, 95% confidence interval 1.06-1.37; P = 0.005). This association was confiexrmed in the Ningxia population (P = 0.015). Carriers of the haplotype TAT for rs12574073, rs1128334 and rs4937333 were associated with increased risk of AS and haplotype CGC with reduced risk as compared to controls. In addition, ETS1 expression was lower in AS patients than controls. The risk allele A of rs1128334 and haplotype A-T of rs1128334 and rs4937333 were associated with decreased expression of ETS1.
Conclusions
Common variants in ETS1 may contribute to AS susceptibility in Han Chinese people.
登录
查看更多内容
受体表达增强蛋白1基因（SPG31）突变在中国汉族遗传性痉挛性截瘫患者中罕见
影响因子：
6.1
作者：
Du Juan;Shen Lu;Tang Bei-sha
通讯作者：
Tang Bei-sha
影响因子：
44.1
作者：
Shi, YY;He, L
通讯作者：
He, L
影响因子：
64.8
作者：
LEPRINCE, D;GEGONNE, A;STEHELIN, D
通讯作者：
STEHELIN, D
中国汉族人群的全基因组关联研究确定了系统性红斑狼疮的九个新易感位点
影响因子：
30.8
作者：
Han, Jian-Wen;Zheng, Hou-Feng;Zhang, Xue-Jun
通讯作者：
Zhang, Xue-Jun
影响因子：
--
作者：
Brown, MA;Kennedy, LG;Wordsworth, P
通讯作者：
Wordsworth, P