Poornima Subhadra, Subramanyam Krishna, Khan Imran Ali, Hasan Qurratulain
Department of Genetics and Molecular Medicine, Kamineni Hospitals, Hyderabad, India.
Department of Orthopedics, Kamineni Hospitals, Hyderabad, India.
J Renin Angiotensin Aldosterone Syst. 2015 Dec;16(4):1281-7. doi: 10.1177/1470320314547403. Epub 2014 Sep 1.
Angiotensin I converting enzyme (ACE) insertion and deletion (I/D) polymorphism has been implicated in the pathogenesis of osteoarthritis (OA). In recent years, numerous genetic factors have been identified and implicated in OA. In this Asian Indian population-based study, we aimed to evaluate the relationship between ACE (I28005D) gene polymorphism and primary OA. We performed a case-control association study to identify and explore the correlation between clinically, radiologically diagnosed individuals with primary knee OA and the ACE I/D polymorphism.
Genomic DNA was isolated from 200 samples, including 100 OA cases and 100 healthy volunteers. DNA was amplified by polymerase chain reaction (PCR) using I and D allele-specific primers. PCR products were assessed via UV visualization of products electrophoresed on 2% agarose gels.
The groups differed significantly in genotype distributions (p < 0.05). The primary knee OA group showed a considerably higher incidence of the DD genotype and the D allele compared to the control group (OR = 2.14, 95% CI: 1.10-4.15, p = 0.02 and OR = 2.08, 95% CI: 1.39-3.10, p = 0.0003).
The ACE gene polymorphism I28005D was found to be associated with primary knee OA in Asian Indian populations. This is the first study in India to report that the ACE gene polymorphism is a risk factor for early onset primary knee OA.
血管紧张素I转换酶(ACE)插入/缺失(I/D)多态性与骨关节炎(OA)的发病机制有关。近年来,已鉴定出许多与OA相关的遗传因素。在这项基于亚洲印度人群的研究中,我们旨在评估ACE(I28005D)基因多态性与原发性OA之间的关系。我们进行了一项病例对照关联研究,以确定并探讨临床及放射学诊断的原发性膝骨关节炎患者与ACE I/D多态性之间的相关性。
从200份样本中分离基因组DNA,其中包括100例OA患者和100名健康志愿者。使用I和D等位基因特异性引物通过聚合酶链反应(PCR)扩增DNA。通过在2%琼脂糖凝胶上电泳后产物的紫外可视化评估PCR产物。
两组基因型分布差异显著(p < 0.05)。与对照组相比,原发性膝骨关节炎组的DD基因型和D等位基因发生率明显更高(OR = 2.14,95% CI:1.10 - 4.15,p = 0.02;OR = 2.08,95% CI:1.39 - 3.10,p = 0.0003)。
发现ACE基因多态性I28005D与亚洲印度人群的原发性膝骨关节炎有关。这是印度首次报道ACE基因多态性是早发性原发性膝骨关节炎的危险因素的研究。