Exon-1 polymorphism of ctla-4 gene is not associated with systemic sclerosis in Iranian patients
Exon-1 polymorphism of ctla-4 gene is not associated with systemic sclerosis in Iranian patients
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DOI：
10.1007/s00296-005-0047-6
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发表时间：
2006-06-01
影响因子：
4
通讯作者：
Ghaderi, A.
中科院分区：
文献类型：
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作者：
Rajaee, A.;Ebrahimi, A.;Ghaderi, A.
尽管细胞毒性T淋巴细胞抗原-4基因外显子-1第49位的多态性在不同的自身免疫性疾病中已得到有力的阐明，但其在系统性硬化症（SSc）易感性中的作用仍存在争议。本研究旨在分析ctla-4基因位点与弥漫性系统性硬化症（dSSc）的遗传相关性，以及了解这些基因型对疾病表达的影响。70例已知的SSc病例和151例年龄匹配的健康对照者参加了这项调查。结果表明，在冠心病组中AA、GG和AG基因型频率分别为26（37.1%）、5（7.2%）和39（55.7%），对照组分别为60（39.7%）、19（12.6%）和72（47.7%）。结果表明，两组间基因型和等位基因频率差异无显著性（P > 0.05）。CTLA-4基因多态性在不同临床和血清学特征患者中的分布无显著差异。在伊朗患者中，SSc的易感性不受双等位基因ctla-4基因（A49 G）多态性的影响。
Although, the cytotoxic T lymphocyte antigen-4 gene polymorphism at position 49 of exon-1 has been strongly elucidated in different autoimmune diseases, but its role in predisposition to systemic sclerosis (SSc) is yet controversial. This study intends to analyze the genetic correlation of the ctla-4 gene locus with diffuse systemic sclerosis (dSSc), as well as to understand the influence of these genotypes in disease expression. Seventy known cases of SSc, and 151 age-matched healthy controls, were participated in this investigation. The frequencies of AA, GG and AG genotypes were found to be 26 (37.1%), 5 (7.2%) and 39 (55.7%) in patients, and 60 (39.7%), 19 (12.6%) and 72 (47.7%) in controls, respectively. As indicated, the differences in genotype and allele frequencies between patients and controls were insignificant (P > 0.05). Moreover, the distribution of CTLA-4 polymorphism between patients did not differ significantly according to clinical and serologic features. In Iranian patients, susceptibility to SSc is not influenced by a bi-allelic ctla-4 gene (A49G) polymorphism.