Abbasi Fatemeh, Mansouri Reza, Gharibdoost Farhad, Aslani Saeed, Mostafaei Shayan, Kavosi Hoda, Poursani Shiva, Sobhani Soheila, Mahmoudi Mahdi
Immunology Department, Shahid Sadoughi University of Medical Sciences, Yazd, Iran.
Rheumatology Research Center, Tehran University of Medical Sciences, Tehran, Iran.
Iran J Allergy Asthma Immunol. 2017 Dec;16(6):471-479.
CD247 and CD226 play important roles in signaling of lymphocytes. Single nucleotide polymorphisms (SNPs) of genes encoding CD247 and CD226 have been associated with the risk of several autoimmune disorders. This study aimed to evaluate the possible association between CD226 and CD247 genes SNPs and risk of systemic sclerosis (SSc) in Iranian population. Study participants were 455 SSc patients and 455 age, sex and ethnic -matched healthy individuals. Genotyping of rs2056626 and rs763361 at CD247 and CD226 genes, respectively, was carried out using TaqMan MGB-based allelic discrimination real-time PCR. Neither alleles nor genotypes of both SNPs showed significant association with the risk of SSc. Furthermore, association analysis of the genotypes with clinical manifestations of the disease revealed that rs763361 variants were associated with the forced vital capacity (FVC) in SSc patients. Our results suggest that genetic variants of CD226 and CD247 genes may not be a contributing factor in pathogenesis of SSc in Iranian population.
CD247和CD226在淋巴细胞信号传导中发挥重要作用。编码CD247和CD226的基因的单核苷酸多态性（SNP）与几种自身免疫性疾病的风险相关。本研究旨在评估伊朗人群中CD226和CD247基因SNP与系统性硬化症（SSc）风险之间的可能关联。研究参与者为455例SSc患者和455例年龄、性别和种族匹配的健康个体。分别使用基于TaqMan MGB的等位基因鉴别实时PCR对CD247和CD226基因的rs2056626和rs763361进行基因分型。两个SNP的等位基因和基因型均未显示与SSc风险有显著关联。此外，对基因型与疾病临床表现的关联分析表明，rs763361变异与SSc患者的用力肺活量（FVC）相关。我们的结果表明，CD226和CD247基因的遗传变异可能不是伊朗人群中SSc发病机制的促成因素。
