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一种候选基因方法将一种IL33基因变异鉴定为巨细胞动脉炎的一种新的遗传风险因素。

A candidate gene approach identifies an IL33 genetic variant as a novel genetic risk factor for GCA.

作者信息

Márquez Ana, Solans Roser, Hernández-Rodríguez José, Cid Maria C, Castañeda Santos, Ramentol Marc, Rodriguez-Rodriguez Luis, Narváez Javier, Blanco Ricardo, Ortego-Centeno Norberto, Palm Oyvind, Diamantopoulos Andreas P, Braun Niko, Moosig Frank, Witte Torsten, Beretta Lorenzo, Lunardi Claudio, Cimmino Marco A, Vaglio Augusto, Salvarani Carlo, González-Gay Miguel A, Martín Javier

机构信息

Instituto de Parasitología y Biomedicina López-Neyra, CSIC, Granada, Spain; Systemic Autoimmune Diseases Unit, Hospital Clínico San Cecilio, Granada, Spain.

Department of Internal Medicine, Hospital Vall d'Hebron, Barcelona, Spain.

出版信息

PLoS One. 2014 Nov 19;9(11):e113476. doi: 10.1371/journal.pone.0113476. eCollection 2014.

DOI:
10.1371/journal.pone.0113476
PMID:25409453
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4237421/
Abstract

INTRODUCTION

Increased expression of IL-33 and its receptor ST2, encoded by the IL1RL1 gene, has been detected in the inflamed arteries of giant cell arteritis (GCA) patients. The aim of the present study was to investigate for the first time the potential influence of the IL33 and IL1RL1 loci on GCA predisposition.

METHODS

A total of 1,363 biopsy-proven GCA patients and 3,908 healthy controls from four European cohorts (Spain, Italy, Germany and Norway) were combined in a meta-analysis. Six genetic variants: rs3939286, rs7025417 and rs7044343, within the IL33 gene, and rs2058660, rs2310173 and rs13015714, within the IL1RL1 gene, previously associated with immune-related diseases, were genotyped using predesigned TaqMan assays.

RESULTS

A consistent association between the rs7025417 polymorphism and GCA was evident in the overall meta-analysis, under both allele (P(MH) = 0.041, OR = 0.88, CI 95% 0.78-0.99) and recessive (P(MH) = 3.40E-03, OR = 0.53, CI 95% 0.35-0.80) models. No statistically significant differences between allele or genotype frequencies for the other IL33 and IL1RL1 genetic variants were detected in this pooled analysis.

CONCLUSIONS

Our results clearly evidenced the implication of the IL33 rs7025417 polymorphism in the genetic network underlying GCA.

摘要

引言

在巨细胞动脉炎（GCA）患者的炎症动脉中已检测到白细胞介素33（IL-33）及其由白细胞介素1受体样1（IL1RL1）基因编码的受体ST2的表达增加。本研究的目的是首次调查IL33和IL1RL1基因座对GCA易感性的潜在影响。

方法

来自四个欧洲队列（西班牙、意大利、德国和挪威）的总共1363例经活检证实的GCA患者和3908例健康对照被纳入荟萃分析。使用预先设计的TaqMan分析对先前与免疫相关疾病相关的IL33基因内的六个遗传变异：rs3939286、rs7025417和rs7044343，以及IL1RL1基因内的rs2058660、rs2310173和rs13015714进行基因分型。

结果

在总体荟萃分析中，rs7025417多态性与GCA之间的一致关联在等位基因（P（MH）=0.041，OR=0.88，95%CI 0.78-0.99）和隐性（P（MH）=3.40E-03，OR=0.53，95%CI 0.35-0.80）模型下均很明显。在该汇总分析中，未检测到其他IL33和IL1RL1基因变异的等位基因或基因型频率之间存在统计学上的显著差异。

结论

我们的结果清楚地证明了IL33 rs7025417多态性在GCA潜在遗传网络中的作用。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8ab9/4237421/f9e7ff3b0534/pone.0113476.g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8ab9/4237421/f9e7ff3b0534/pone.0113476.g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8ab9/4237421/f9e7ff3b0534/pone.0113476.g001.jpg

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