Inanır Ahmet, Yigit Serbulent, Tural Sengul, Ozturk Sibel Demir, Akkanet Songul, Habiboğlu Abdulkadir
Gaziosmanpaşa University, Faculty of Medicine, Department of Physical Medicine and Rehabilitation, Tokat, Turkey.
Mol Vis. 2012;18:2107-13. Epub 2012 Jul 26.
Ankylosing spondylitis (AS) is a chronic inflammatory rheumatic disease that characteristically affects the sacroiliac joints and the spine. Also iritis and uveitis can be serious complications of AS that can damage the eye and impair vision. The exact pathogenesis of AS remains poorly understood but genetic factors play a key role in its development. Human leukocyte antigen B27 (HLA-B27) is the major genetic susceptibility marker in AS. To our knowledge, angiotensin converting enzyme (ACE) gene I/D polymorphisms have not yet been investigated in AS patients in Turkish population.This study was conducted in Turkish patients with AS to determine the frequency of I/D polymorphism genotypes of angiotensin converting enzyme gene.
Genomic DNA obtained from 262 persons (122 patients with ankylosing spondylitis and 140 healthy controls) was used in the study. ACE I/D polymorphism genotypes were determined by using polymerase chain reaction with specific primers.
There was statistically significant difference between the groups with respect to genotype distribution (p<0.001). When we examine ACE genotype frequencies according to the clinical characteristics there was a statistically significant association between DD genotype and ocular involvement (p=0.04) also sacroiliac joint involvement (p=0.03).
As a result of our study, angiotensin converting enzyme gene I/D polymorphism DD genotype could be a genetic marker in ankylosing spondylitis in a Turkish study population.
强直性脊柱炎（AS）是一种慢性炎症性风湿性疾病，其特征是累及骶髂关节和脊柱。虹膜炎和葡萄膜炎也是AS的严重并发症，可损害眼睛并损害视力。AS的确切发病机制仍知之甚少，但遗传因素在其发展中起关键作用。人类白细胞抗原B27（HLA - B27）是AS的主要遗传易感性标志物。据我们所知，土耳其人群中AS患者尚未对血管紧张素转换酶（ACE）基因I/D多态性进行研究。本研究在土耳其AS患者中进行，以确定血管紧张素转换酶基因I/D多态性基因型的频率。
本研究使用从262人（122例强直性脊柱炎患者和140名健康对照）获得的基因组DNA。通过使用特异性引物的聚合酶链反应确定ACE I/D多态性基因型。
两组之间在基因型分布方面存在统计学显著差异（p<0.001）。当我们根据临床特征检查ACE基因型频率时，DD基因型与眼部受累（p = 0.04）以及骶髂关节受累（p = 0.03）之间存在统计学显著关联。
作为我们研究的结果，在土耳其研究人群中，血管紧张素转换酶基因I/D多态性DD基因型可能是强直性脊柱炎的遗传标志物。
