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亚甲基四氢叶酸还原酶基因多态性(rs1801133)与系统性红斑狼疮风险:一项荟萃分析。

MTHFR polymorphisms (rs1801133) and systemic lupus erythematosus risk: A meta-analysis.

作者信息

Zhou Huang-Yan, Yuan Min

机构信息

Department of blood transfusion, Jiangxi Cancer Hospital.

Department of Neurology, Jiangxi provincial People's Hospital Affiliated to Nanchang University, Nanchang, Jiangxi, China.

出版信息

Medicine (Baltimore). 2020 Oct 2;99(40):e22614. doi: 10.1097/MD.0000000000022614.

Abstract

BACKGROUND

The relationship between MTHFR (5, 10-methylene tetrahydrofolate reductase) gene polymorphisms and Systemic Lupus Erythematosus (SLE) has been wildly studied, but the results are still conflicting. Therefore, the purpose of this meta and pooled analysis was to identify the role of the MTHFR SNP (single nucleotide polymorphism, rs1801133) in SLE in a large sample of subjects and to assess the risk of SLE.

METHODS

Data were collected from EMBASE, PubMed and China National Knowledge Infrastructure from inception to August, 2019. Summary odds ratio (OR) with 95% confidence interval (CI) was applied to assess the association. Subgroup and sensitivity analysis were performed to assess the potential sources of heterogeneity of the pooled estimation.

RESULTS

We identified seven eligible studies involving 882 cases and 991 controls. MTHFR rs1801133 T carrier was significantly associated with increased risk of SLE when comparing to C allele [ORs were 1.766 (1.014-3.075) for T carrier vs CC, P = .04]. Furthermore, the results of the subgroup analysis by genotyping methods suggested that T allele significantly contributed to the risk of SLE for both by polymerase chain reaction-TaqMan (PCR-TaqMan) [10.111 (2.634-38.813) for TT vs CC, 3.467 (1.324-9.078) for CT vs CC and 3.744 (1.143-12.264) for TT vs C carrier]. Also the results of the subgroup analysis by ethnicity suggested that T allele significantly contributed to the risk of SLE for Asians [9.679 (4.444-21.082) for TT vs CC, 5.866 (3.021-11.389) for T carrier vs CC and 8.052 (3.861-16.795) for TT vs C carrier].

CONCLUSION

This cumulative meta-analysis showed that the MTHFR SNP (rs1801133) contributed to susceptibility of SLE. However, more multicentre well-designed case-control studies and larger sample sizes are exceedingly required to validate our findings in the future.

摘要

背景

5,10-亚甲基四氢叶酸还原酶(MTHFR)基因多态性与系统性红斑狼疮(SLE)之间的关系已得到广泛研究,但结果仍存在冲突。因此,本荟萃分析和汇总分析的目的是在大量受试者样本中确定MTHFR单核苷酸多态性(SNP,rs1801133)在SLE中的作用,并评估SLE的风险。

方法

从EMBASE、PubMed和中国知网收集自数据库建立至2019年8月的数据。应用汇总比值比(OR)及95%置信区间(CI)评估相关性。进行亚组分析和敏感性分析以评估汇总估计异质性的潜在来源。

结果

我们纳入了7项符合条件的研究,共涉及882例病例和991例对照。与C等位基因相比,MTHFR rs1801133 T携带者发生SLE的风险显著增加[T携带者与CC相比,OR为1.766(1.014 - 3.075),P = 0.04]。此外,通过基因分型方法进行的亚组分析结果表明,对于聚合酶链反应 - TaqMan法(PCR - TaqMan),T等位基因显著增加SLE风险[TT与CC相比为10.111(2.634 - 38.813),CT与CC相比为3.467(1.324 - 9.078),TT与C携带者相比为3.744(1.143 - 12.264)]。按种族进行的亚组分析结果还表明,对于亚洲人,T等位基因显著增加SLE风险[TT与CC相比为9.679(4.444 - 21.082),T携带者与CC相比为5.866(3.021 - 11.389),TT与C携带者相比为8.052(3.861 - 16.795)]。

结论

这项累积荟萃分析表明,MTHFR SNP(rs1801133)导致SLE易感性增加。然而,未来需要更多多中心精心设计的病例对照研究和更大样本量来验证我们的发现。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1e0e/7535654/e6f4b090f66f/medi-99-e22614-g002.jpg

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