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PTPN22 1858C>T 多态性与系统性红斑狼疮易感性:荟萃分析更新。

PTPN22 1858C > T polymorphism and susceptibility to systemic lupus erythematosus: a meta-analysis update.

机构信息

a Laboratory of Immunopathology Keizo Asami (LIKA) , Federal University of Pernambuco , Recife , Brazil.

b Department of Genetics , Federal University of Pernambuco , Recife , Brazil.

出版信息

Autoimmunity. 2017 Nov;50(7):428-434. doi: 10.1080/08916934.2017.1385774. Epub 2017 Oct 8.

Abstract

Studies performed in the past years showed PTNP22 1858 C > T (rs2476601) polymorphism as associated with systemic lupus erythematosus susceptibility, although conflicting findings are still found. In this context, a powerful statistical study, such as meta-analysis, is necessary to establish a consensus. The aim of this study was to evaluate association studies between the PTPN22 1858 C > T polymorphism and SLE by a meta-analysis update, including three recently published studies in the last three years. A total of 3868 SLE patients and 7458 healthy individuals were considered herein, enclosing 19 studies from Asian, American, European and Latin ethnic groups. Odds ratio (OR) was performed for allelic, dominant and recessive genetic models. Statistically significant association was found between the PTPN22 1858 C > T polymorphism and susceptibility to SLE in all inheritance models. Allelic genetic model data (OR = 1.54, 95% confidence interval (CI) = 1.38-1.72, p value=.000) shows that T allele confers increased SLE susceptibility. As well as recessive genetic model (OR = 2.04, 95% CI = 1.09-3.82, p value = .030) for T/T genotype. Instead, dominant genetic model shows that C/C genotype confers lower susceptibility for SLE development (OR = 0.62, 95% CI = 0.54-0.72, p value = .000). In addition, we provided an ethnicity-derived meta-analysis. The results showed association in Caucasian (OR = 1.47, p value = .000) and Latin (OR = 2.41, p value = .000) ethnic groups. However, rs2476601 polymorphism is not associated nor in Asian (OR= 1.31; p value = .54) and African (OR = 2.04; p value=.22) populations. In conclusion, present meta-analysis update confirms that T allele and T/T genotype in PTPN22 1858 C > T polymorphism confers SLE susceptibility, particular in Caucasian and Latin groups, suggesting PTPN22 1858 C > T as a potential genetic marker in SLE susceptibility.

摘要

过去几年的研究表明,PTNP22 1858C>T(rs2476601)多态性与系统性红斑狼疮易感性相关,尽管仍存在相互矛盾的发现。在这种情况下,需要进行一项强大的统计研究,如荟萃分析,以达成共识。本研究旨在通过荟萃分析更新来评估 PTPN22 1858C>T 多态性与 SLE 之间的关联研究,其中包括过去三年中发表的三项最新研究。共纳入了 3868 名系统性红斑狼疮患者和 7458 名健康个体,其中包含了来自亚洲、美洲、欧洲和拉丁族群的 19 项研究。进行了等位基因、显性和隐性遗传模型的优势比(OR)分析。在所有遗传模型中,均发现 PTPN22 1858C>T 多态性与 SLE 的易感性之间存在统计学显著关联。等位基因遗传模型数据(OR=1.54,95%置信区间(CI)=1.38-1.72,p 值=0.000)表明 T 等位基因增加了 SLE 的易感性。同样,隐性遗传模型(OR=2.04,95%CI=1.09-3.82,p 值=0.030)对于 T/T 基因型也是如此。相反,显性遗传模型表明 C/C 基因型对 SLE 发病的易感性较低(OR=0.62,95%CI=0.54-0.72,p 值=0.000)。此外,我们提供了一项基于种族的荟萃分析。结果表明,在白种人(OR=1.47,p 值=0.000)和拉丁裔(OR=2.41,p 值=0.000)群体中存在关联。然而,rs2476601 多态性与亚洲人群(OR=1.31;p 值=0.54)和非洲人群(OR=2.04;p 值=0.22)均无关联。总之,本荟萃分析更新证实,PTPN22 1858C>T 多态性中的 T 等位基因和 T/T 基因型赋予了 SLE 易感性,尤其是在白种人和拉丁裔人群中,提示 PTPN22 1858C>T 可能是 SLE 易感性的潜在遗传标志物。

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