Mishra Abhishek, Srivastava Rajeshwar Nath, Awasthi Sachin, Parmar Devendra, Mishra Priya
Centre for Advanced Research, King George's Medical University, Lucknow, India.
Department of Orthopaedic Surgery, King George's Medical University, Lucknow, India.
J Nucleic Acids. 2017;2017:3138254. doi: 10.1155/2017/3138254. Epub 2017 Oct 9.
Genetic factors including the level of expression of the fingerprint of genes involved in the development of bones and cartilage such as GDF-5 or ESR- or CALM-1 are known to be strong determinants of the osteoarthritis (OA) in Caucasian and Oriental populations. Because of high prevalence of OA in Indian population and availability of limited genetic data, we determined whether similar genetic factors are involved in Indians as well.
A case control study was carried out involving 500 patients of knee OA and equal number of healthy controls. Genotyping analyses in whole blood, mRNA, and protein expressions in peripheral blood lymphocytes (PBLs) were performed using established protocols.
Our results showed a significantly decreased level of mRNA and protein expressions for GDF-5, ESR-, and CALM-1 genes in PBLs of OA cases when compared to healthy controls. The frequency of variant genotypes of these genes was also increased significantly in cases of OA compared to controls.
Our results demonstrated that the decrease in expression of GDF-5, ESR-, and CALM-1 in PBLs and association of polymorphism in these genes may be important in predicting the severity and thereby the progression of OA in Indian population.
已知包括参与骨骼和软骨发育的基因指纹（如生长分化因子5、雌激素受体或钙调蛋白1）表达水平在内的遗传因素，是白种人和东方人群骨关节炎（OA）的重要决定因素。由于印度人群中OA的患病率较高，而遗传数据有限，我们确定印度人群中是否也涉及类似的遗传因素。
开展了一项病例对照研究，纳入500例膝骨关节炎患者和同等数量的健康对照。使用既定方案对全血进行基因分型分析，并对外周血淋巴细胞（PBL）中的mRNA和蛋白表达进行检测。
我们的结果显示，与健康对照相比，OA病例的PBL中生长分化因子5、雌激素受体和钙调蛋白1基因的mRNA和蛋白表达水平显著降低。与对照组相比，这些基因的变异基因型在OA病例中的频率也显著增加。
我们的结果表明，PBL中生长分化因子5、雌激素受体和钙调蛋白1表达的降低以及这些基因多态性的关联，可能对预测印度人群OA的严重程度及病情进展具有重要意义。
