Association of TBX21 gene haplotypes in a Chinese population with systemic lupus erythematosus
Association of TBX21 gene haplotypes in a Chinese population with systemic lupus erythematosus
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中国系统性红斑狼疮人群TBX21基因单倍型的关联
DOI：
10.3109/03009740903347983
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发表时间：
2010-05-01
影响因子：
2.1
通讯作者：
Deng, G.
中科院分区：
文献类型：
--
作者：
You, Y.;Zhao, W.;Deng, G.
方法：该研究包括 248 名 SLE 患者和 261 名性别和年龄匹配的健康对照者。通过聚合酶链反应-限制性片段长度多态性（PCR-RFLP）分析鉴定TBX21启动子中的多态性T-1993C（rs4794067）和T-1514C（rs17250932）。结果：SLE患者中-1993T和-1514T等位基因的频率均显着高于对照组。通过单倍型分析，与对照组相比，病例组-1993C/-1514C位点的单倍型频率显着降低（p = 0.0002）。多因素logistic回归分析显示，CC/CC单倍型纯合子个体对SLE的易感性降低[p = 0.0004，比值比(OR) 0.316，95%置信区间(CI) 0.167-0.599]。结论：我们的结果表明-1993C/-1514C单倍型可能是SLE遗传易感性的保护因素在中国人口中。
Methods: The study included 248 cases with SLE and 261 gender- and age-matched healthy controls. The polymorphisms T-1993C (rs4794067) and T-1514C (rs17250932) in the TBX21 promoter were identified by a polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) assay.Results: The frequency of both the -1993T and the -1514T allele were significantly higher in SLE patients than in controls. By haplotype analysis, there was significantly decreased frequency of the haplotype at positions -1993C/-1514C in the case group compared with the control group (p = 0.0002). Multifactorial logistic regression analysis showed that individuals with CC/CC haplotype homozygotes had a decreased susceptibility to SLE [p = 0.0004, odds ratio (OR) 0.316, 95% confidence interval (CI) 0.167-0.599].Conclusion: Our results suggest that the -1993C/-1514C haplotype may be a protective factor for genetic susceptibility to SLE in the Chinese population.