Sarı Gülden, Kurt Emel, Saydam Faruk, Değirmenci İrfan, Güneş Hasan Veysi
Department of Chest Diseases, Gaziemir State Hospital, Izmir, Turkey.
Department of Chest Diseases, Faculty of Medicine, Eskişehir Osmangazi University, Eskisehir, Turkey.
Cytotechnology. 2015 Dec;67(6):1067-72. doi: 10.1007/s10616-014-9747-7. Epub 2014 Jul 10.
Sarcoidosis is a chronic inflammatory disease with a complex pathogenesis and unknown etiology characterized by noncaseating granulomas that invade the lungs, eyes, liver and other organs. Insertion (I)/deletion (D) polymorphism in the gene encoding the angiotensin-converting enzyme (ACE) has been studied to examine the genetic predisposition to sarcoidosis in different populations, but the results have been inconsistent and inconclusive. This study aimed to determine the frequencies of the genotypes and alleles of I/D polymorphism in the ACE gene in Turkish patients as a distinct ethnic group and to investigate whether such polymorphism is associated with predisposition to sarcoidosis. Genomic DNA samples obtained from 154 individuals (70 patients with sarcoidosis and 84 healthy controls) were used in the study. The DNA was amplified using polymerase chain reactions using allele-specific primers. The amplified products were analyzed by 2 % agarose gel electrophoresis followed by UV transillumination. The allele frequencies and genotype distribution of the groups were analyzed using the Chi square test. There were no significant differences between the controls and sarcoidosis cases with respect to genotype distribution (χ(2) = 4.202, p = 0.122) and allele frequencies (χ(2) = 1.358, p = 0.244). Our results suggest that I/D polymorphism in the ACE gene does not cause a genetic predisposition to sarcoidosis in Turkish patients.
结节病是一种慢性炎症性疾病,发病机制复杂,病因不明,其特征是形成非干酪样肉芽肿,可侵犯肺、眼、肝和其他器官。对编码血管紧张素转换酶(ACE)的基因中的插入(I)/缺失(D)多态性进行了研究,以检测不同人群中结节病的遗传易感性,但结果一直不一致且尚无定论。本研究旨在确定作为一个独特种族群体的土耳其患者中ACE基因I/D多态性的基因型和等位基因频率,并调查这种多态性是否与结节病的易感性相关。本研究使用了从154名个体(70例结节病患者和84名健康对照)获得的基因组DNA样本。使用等位基因特异性引物通过聚合酶链反应扩增DNA。扩增产物通过2%琼脂糖凝胶电泳分析,随后进行紫外透射照明。使用卡方检验分析各组的等位基因频率和基因型分布。在基因型分布(χ(2)=4.202,p=0.122)和等位基因频率(χ(2)=1.358,p=0.244)方面,对照组和结节病病例之间没有显著差异。我们的结果表明,ACE基因中的I/D多态性不会导致土耳其患者患结节病的遗传易感性。