Ramírez-Pérez S, Salazar-Páramo M, Pineda-Monjarás S, De la Cruz-Mosso U, Hernández-Bello J, Martínez-Bonilla G E, Pereira-Suárez A L, Muñoz-Valle J F
Instituto de Investigación en Ciencias Biomédicas, CUCS, Universidad de Guadalajara, Guadalajara, Jalisco, Mexico.
Departamento de Fisiología, CUCS, Universidad de Guadalajara, Guadalajara, Jalisco, Mexico.
Clin Rheumatol. 2017 Jun;36(6):1247-1252. doi: 10.1007/s10067-017-3610-0. Epub 2017 Mar 25.
Rheumatoid arthritis (RA) is a chronic, systemic disease of unknown etiology. Several studies have reported a variable number of tandem repeat (VNTR) 86 bp (rs2234663) in the intron 2 of IL1RN gene with RA risk. The present study was designed to determine the frequencies of this polymorphism in patients with RA and control subjects (CS) and its association with RA in a western Mexican population. An analytical cross-sectional study was performed, in which 350 patients with RA and 307 CS were included. The identification of IL1RN VNTR polymorphism was carried out by polymerase chain reaction (PCR), and genotypes were associated with clinical variables (DAS28 and CRP). The presence of A1/A2 genotype was associated with RA risk (p = 0.03, OR = 1.45, 95% CI = 1.02-2.05). Also, results indicate that the presence of heterozygote genotypes which include A2 was associated with RA risk (p = 0.01, OR = 1.5, 95% CI = 1.07-2.11). Patients carrier of A2/A2 genotype have a higher score of DAS28 (5.64 [4.49-6.70]). A-/A- has higher level of CRP (2.30 [0.62-9.10]) in comparison with A2/A- (1.06 [0.37-2.82]). A1/A2 genotype was associated with susceptibility to RA in a western Mexican population. The presence of the A2/A2 genotype in RA is associated with increased disease activity.
类风湿关节炎（RA）是一种病因不明的慢性全身性疾病。多项研究报告了IL1RN基因内含子2中86bp可变数目串联重复序列（VNTR，rs2234663）与RA风险相关。本研究旨在确定墨西哥西部人群中RA患者和对照受试者（CS）中这种多态性的频率及其与RA的关联。进行了一项分析性横断面研究，纳入了350例RA患者和307例CS。通过聚合酶链反应（PCR）鉴定IL1RN VNTR多态性，并将基因型与临床变量（DAS28和CRP）相关联。A1/A2基因型的存在与RA风险相关（p = 0.03，OR = 1.45，95%CI = 1.02 - 2.05）。此外，结果表明，包含A2的杂合子基因型的存在与RA风险相关（p = 0.01，OR = 1.5，95%CI = 1.07 - 2.11）。A2/A2基因型携带者的DAS28评分更高（5.64 [4.49 - 6.70]）。与A2/A-（1.06 [0.37 - 2.82]）相比，A-/A-的CRP水平更高（2.30 [0.62 - 9.10]）。在墨西哥西部人群中，A1/A2基因型与RA易感性相关。RA中A2/A2基因型的存在与疾病活动增加相关。
