Association of TYK2 rs34536443 polymorphism with Susceptibility to Systemic Lupus Erythematous in the Iranian Population

S. Faezi, S. Soltani, M. Akbarian, S. Aslani, Elham Hamzeh, Ali Jamshidi, N. Ahmadzadeh, M. Mahmoudi
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引用次数: 4

Abstract

Systemic lupus erythematous (SLE) is a multifactorial autoimmune disorder which affects many organs and displays various symptoms. Genetic components contribute to the incidence and development of SLE. A rare functional variant within the tyrosine kinase 2 (TYK2) gene (rs34536443) is a common genetic candidate for several autoimmune diseases, including SLE. This case control study was performed to investigate the possible association of TYK2 single nucleotide polymorphism (SNP) with a predisposition for and clinical features of SLE in the Iranian population.Genotyping was conducted on 600 patients with SLE and 600 sex-, age- and ethnicity-matched control subjects from the Iranian population. Patient and control samples were genotyped for one SNP (rs34536443) by applying allelic discrimination real-time PCR.Statistical analysis of the allele distribution revealed no significant association (OR = 0.67, CI: 0.38-1.17, P value = 0.163) between the rs34536443 C allele and susceptibility to SLE. The CC genotype was not detected in either the patients or controls. Moreover, the CG genotypes showed no significant association with the risk of SLE (OR = 0.66, CI: 0.37-1.72, P value = 0.15).These findings suggest that TYK2 rs34536443 is not associated with SLE susceptibility in the Iranian population. Further investigation is required to examine the mechanisms by which polymorphisms in this gene lead to SLE development.
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伊朗人群中TYK2 rs34536443多态性与系统性红斑狼疮易感性的关系
系统性红斑狼疮(SLE)是一种多因素自身免疫性疾病,影响许多器官并表现出多种症状。遗传因素有助于SLE的发生和发展。酪氨酸激酶2 (TYK2)基因(rs34536443)中的一种罕见的功能变异是包括SLE在内的几种自身免疫性疾病的常见遗传候选者。本病例对照研究旨在调查TYK2单核苷酸多态性(SNP)与伊朗人群SLE易感性和临床特征之间的可能关联。对600名SLE患者和600名来自伊朗人群的性别、年龄和种族匹配的对照组进行了基因分型。采用等位基因识别实时PCR对患者和对照样品进行1个SNP (rs34536443)的基因分型。等位基因分布统计分析显示,rs34536443 C等位基因与SLE易感性无显著相关性(OR = 0.67, CI: 0.38 ~ 1.17, P值= 0.163)。在患者和对照组中均未检测到CC基因型。此外,CG基因型与SLE风险无显著相关性(OR = 0.66, CI: 0.37 ~ 1.72, P值= 0.15)。这些发现表明TYK2 rs34536443与伊朗人群的SLE易感性无关。需要进一步研究该基因的多态性导致SLE发展的机制。
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