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拉丁裔人群中[具体基因名称1]和[具体基因名称2]多态性及其相互作用与类风湿关节炎的关联

Association of and Polymorphisms and Interactions With Rheumatoid Arthritis in a Latin-American Population.

作者信息

Ramírez-Bello Julian, Fragoso José M, Alemán-Ávila Isidro, Jiménez-Morales Silvia, Campos-Parra Alma D, Barbosa-Cobos Rosa Elda, Moreno José

机构信息

Unidad de Investigación, Hospital Juárez de México, Mexico City, Mexico.

Laboratorio de Biología Molecular, Instituto Nacional de Cardiología, Mexico City, Mexico.

出版信息

Front Genet. 2020 Feb 20;11:58. doi: 10.3389/fgene.2020.00058. eCollection 2020.

Abstract

INTRODUCTION

has been identified as a risk factor to rheumatoid arthritis (RA) primarily in Asian or European-derived populations. However, this finding has not been evaluated in other populations such as Latin-Americans, except for Colombians. On the other hand, single nucleotide variants (SNVs) have been scarcely studied in RA patients.

OBJECTIVE

The aim of this study was to determine whether the BLK rs2736340T/C, rs13277113A/G, and BANK1 rs10516487G/A (R61H) and rs3733197G/A (A383T) polymorphisms are risk factors to RA in a sample of patients from Central Mexico.

MATERIALS AND METHODS

We studied 957 women; 487 controls and 470 patients with RA by means of a TaqMan® SNP genotyping assay with fluorescent probes for the rs13277113A/G, rs2736340T/C and 10516487G/A (R61H) and rs3733197G/A (A383T) variants.

RESULT

The rs2736340T/C and rs13277113A/G variants were associated with risk for RA: C vs T; OR 1.39, = 0.001, and G vs A; OR 1.37, = 0.004, respectively. In addition, there was also an association between R61H and RA: A vs G; OR 1.49, = 0.003, but no with A383T. We also identified an interaction significant between genotypes of rs2736340T/C- rs10516487G/A and RA: OR 1.65, = 0.0001.

CONCLUSIONS

Our data suggest that both and confer susceptibility to RA in Mexican patients. The individual association of rs1054857G/A with RA had not been previously reported in a particular population (except for pooled patients from several countries), therefore, our study presents the first evidence of association between this variant and RA.

摘要

引言

在主要为亚洲或欧洲血统的人群中,已确定其为类风湿性关节炎(RA)的一个风险因素。然而,除哥伦比亚人外,这一发现尚未在其他人群(如拉丁美洲人)中得到评估。另一方面,单核苷酸变异(SNV)在RA患者中很少被研究。

目的

本研究的目的是确定在来自墨西哥中部的患者样本中,BLK基因的rs2736340T/C、rs13277113A/G,以及BANK1基因的rs10516487G/A(R61H)和rs3733197G/A(A383T)多态性是否为RA的风险因素。

材料与方法

我们通过TaqMan®SNP基因分型检测法,使用荧光探针检测rs13277113A/G、rs2736340T/C以及10516487G/A(R61H)和rs3733197G/A(A383T)变异,研究了957名女性,其中487名对照者和470名RA患者。

结果

rs2736340T/C和rs13277113A/G变异与RA风险相关:C与T相比;比值比(OR)为1.39,P = 0.001,G与A相比;OR为1.37,P = 0.004。此外,R61H与RA之间也存在关联:A与G相比;OR为1.49,P = 0.003,但与A383T无关。我们还发现rs2736340T/C - rs10516487G/A的基因型与RA之间存在显著相互作用:OR为1.65,P = 0.0001。

结论

我们的数据表明,这两个基因均使墨西哥患者易患RA。rs1054857G/A与RA的个体关联此前尚未在特定人群中报道(除了来自几个国家的汇总患者),因此,我们的研究首次提供了该变异与RA之间存在关联的证据。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5511/7045059/22d61083d4a8/fgene-11-00058-g001.jpg

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