학술논문

Expression of Genes and Their Polymorphism Influences the Risk of Knee Osteoarthritis
Document Type
Report
Source
Journal of Nucleic Acids. Annual 2017, Vol. 2017
Subject
Osteoarthritis -- Risk factors -- Genetic aspects -- Research
Genetic polymorphisms -- Research
Gene expression -- Research
Biological sciences
Research
Genetic aspects
Risk factors
Language
English
ISSN
2090-021X
Abstract
Introduction. 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-[alpha] 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. Methods. 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. Results. Our results showed a significantly decreased level of mRNA and protein expressions for GDF-5, ESR-[alpha], 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. Conclusion. Our results demonstrated that the decrease in expression of GDF-5, ESR-[alpha], 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.
1. Introduction Osteoarthritis (OA), characterized by gradual loss of articular cartilage in the joint, is a leading cause of disability among the elderly people [1, 2]. Though the etiology and [...]