Association of HLA-DP/DQ and STAT4 polymorphisms with ankylosing spondylitis in Southwest China
Association of HLA-DP/DQ and STAT4 polymorphisms with ankylosing spondylitis in Southwest China
复制标题
西南地区HLA-DP/DQ和STAT4多态性与强直性脊柱炎的相关性
DOI：
10.1016/j.intimp.2016.06.033
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发表时间：
2016-10-01
影响因子：
5.6
通讯作者：
Wang, Lanlan
中科院分区：
文献类型：
--
作者：
Liu, Xinle;Yang, Bin;Wang, Lanlan
强直性脊柱炎是一种高度遗传的复杂性炎症性关节炎。遗传因素被认为在AS的发病机制中起关键作用。然而，在中国人群中，HLA-DP/DQ和STAT 4基因多态性与AS易感性的关系的数据很少。因此，我们检测了HLA-DP/DQ和STAT 4基因多态性（rs3077，rs 9277535，rs7453920和rs7574865），共779例受试者，包括400例AS和379例年龄和性别匹配的健康对照。AS患者与健康对照组rs3077、rs 9277535和rs7574865等位基因频率差异无统计学意义。然而，HLA-DQ rs7453920 G/A变异与AS患者之间存在显著相关性，次要等位基因A与AS风险降低相关（等位基因频率，校正OR = 0.66，95%CI = 0.55-0.78，p = 4.0E - 06;显性模型，校正OR = 0.75，95%CI = 0.66-0.85，p = 1.1E - 05）。此外，单倍型阻断HLA基因中的AAA和GGA与AS风险降低显著相关。本研究首次证实中国西南地区人群中HLA基因rs7453920单核苷酸多态性和单倍型与AS的发病风险显著相关。本研究为HLA多态性与AS的关系提供了新的思路。(C)2016爱思唯尔B. V.保留所有权利。
Ankylosing spondylitis (AS) is a highly heritable complex inflammatory arthritis disease. Genetic factors are thought to be crucial in the pathogenesis of AS. However, few data are available on the relationship between HLA-DP/DQ and STAT4 polymorphisms and AS susceptibility in the Chinese population. Therefore, we examined HLA-DP/DQ and STAT4 polymorphisms (rs3077, rs9277535, rs7453920 and rs7574865) in a total of 779 subjects, including 400 AS and 379 age- and sex-matched healthy controls in Chinese. No significant difference was observed between AS patients and healthy controls in the allele frequency of rs3077, rs9277535 and rs7574865. However, there was a significant association between the HLA-DQ rs7453920 G/A variant and, AS patients, with minor allele A correlated with a reduced risk of AS (allelic frequency, adjusted OR = 0.66, 95% CI = 0.55-0.78, p = 4.0E - 06; dominant model, adjusted OR = 0.75, 95% CI = 0.66-0.85, p = 1.1E - 05). Moreover, the haplotypes block AAA and GGA in the HLA gene significantly correlated with reduced risk of AS. This is the first study demonstrating the significant associations of SNP rs7453920 and the haplotypes in the HLA gene with the risk of AS in Southwest Chinese population. This research sheds new light on the significant relationship between HLA polymorphisms and AS. (C) 2016 Elsevier B.V. All rights reserved.