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PTPN22、FAS/FASL、IL2RA 和 CTLA4 基因多态性对斑秃发病风险的影响:文献系统评价和荟萃分析。

Effect of PTPN22, FAS/FASL, IL2RA and CTLA4 genetic polymorphisms on the risk of developing alopecia areata: A systematic review of the literature and meta-analysis.

机构信息

Clinical Epidemiology Program, Fundación Universitaria de Ciencias de la Salud (FUCS), Bogotá, Colombia.

Clinical Epidemiology Program, Research Institute, Fundación Universitaria de Ciencias de la Salud (FUCS), Bogotá, Colombia.

出版信息

PLoS One. 2021 Nov 4;16(11):e0258499. doi: 10.1371/journal.pone.0258499. eCollection 2021.

DOI:10.1371/journal.pone.0258499
PMID:34735462
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8568157/
Abstract

OBJECTIVES

Genetic association studies on alopecia areata (AA) performed in various populations have shown heterogeneous results. The aim of the current review was to synthesize the results of said studies to estimate the impact of FAS, FASL, PTPN22, CTLA4 and IL2RA gene polymorphisms on AA susceptibility.

DESIGN

A systematic literature search was conducted in the Medline, Web of Science, Scopus, EMBASE and LILACS databases. Studies published up to June 2020 were included. The results available in the grey literature including the Open Grey and Google Scholar databases were also used. The texts of potentially related studies were screened by individual reviewers. Evidence of publication bias was assessed using the Newcastle-Ottawa scale and the quality of evidence was assessed using the GRADE system. The quantitative synthesis was performed using the fixed effect model.

RESULTS

Out of 1784 articles, we identified 18 relevant articles for the qualitative synthesis and 16 for the quantitative synthesis. In a study of rs2476601 polymorphism of PTPN22 gene, including 1292 cases and 1832 controls, a correlation was found with the risk of developing AA in the allelic model (OR1.49 [95% C:1.13-1.95]), the heterozygous codominant (OR1.44 [95% CI:1:19-1.76]) and dominant model (OR1.43 [95% CI:1.18-1.73]). No association was found between the presence of FASL, PTPN22, CTLA and IL2RA gene polymorphisms with AA susceptibility.

CONCLUSIONS

The results suggest that the T allele of the single nucleoid polymorphism (SNP) rs2476601 in PTPN22 gene is a risk factor for developing alopecia areata. However, more robust studies defining the ethnic background of the population of origin are required, so that the risk identified in the present study can be validated. Additionally, a greater number of studies is necessary to evaluate the role of the FAS, FASL, PTPN22, CTLA4 and IL2RA genetic variants, given the heterogenous results found in the literature.

摘要

目的

在不同人群中进行的斑秃(AA)遗传关联研究结果存在异质性。本综述的目的是综合这些研究结果,以评估 FAS、FASL、PTPN22、CTLA4 和 IL2RA 基因多态性对 AA 易感性的影响。

设计

在 Medline、Web of Science、Scopus、EMBASE 和 LILACS 数据库中进行了系统的文献检索。纳入截至 2020 年 6 月发表的研究。还使用了灰色文献(包括 Open Grey 和 Google Scholar 数据库)中可用的结果。由单独的评审员筛选潜在相关研究的文本。使用纽卡斯尔-渥太华量表评估发表偏倚的证据,并使用 GRADE 系统评估证据质量。使用固定效应模型进行定量综合。

结果

在 1784 篇文章中,我们确定了 18 篇用于定性综合的相关文章和 16 篇用于定量综合的相关文章。在一项关于 PTPN22 基因 rs2476601 多态性的研究中,包括 1292 例病例和 1832 例对照,在等位基因模型(OR1.49 [95%CI:1.13-1.95])、杂合子显性模型(OR1.44 [95%CI:1.19-1.76])和显性模型(OR1.43 [95%CI:1.18-1.73])中发现与 AA 发病风险相关。未发现 FASL、PTPN22、CTLA 和 IL2RA 基因多态性与 AA 易感性之间存在关联。

结论

结果表明,PTPN22 基因单核苷酸多态性(SNP)rs2476601 的 T 等位基因是发生斑秃的危险因素。然而,需要更多具有明确人群遗传背景的研究来验证本研究中发现的风险。此外,鉴于文献中发现的结果存在异质性,需要进行更多的研究来评估 FAS、FASL、PTPN22、CTLA4 和 IL2RA 遗传变异的作用。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d057/8568157/f9f1b3fc6c6e/pone.0258499.g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d057/8568157/991fde2f32d4/pone.0258499.g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d057/8568157/37732de57edd/pone.0258499.g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d057/8568157/4cdccd33f021/pone.0258499.g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d057/8568157/f9f1b3fc6c6e/pone.0258499.g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d057/8568157/991fde2f32d4/pone.0258499.g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d057/8568157/37732de57edd/pone.0258499.g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d057/8568157/4cdccd33f021/pone.0258499.g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d057/8568157/f9f1b3fc6c6e/pone.0258499.g004.jpg

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