Role of PTPN22 and VDR gene polymorphisms in susceptibility to rheumatoid arthritis: a study from central India

Abstract

Role of PTPN22 and VDR gene polymorphisms in susceptibility to rheumatoid arthritis: a study from central India Smriti Shukla,1 Arvind Kumar Tripathi,1 Jitendra Kumar Tripathi,1 Manoj Indurkar,2 Ugam Kumari Chauhan1 1Centre for Biotechnology Studies, Awadhesh Pratap Singh University, Rewa, Madhya Pradesh, India; 2Department of Medicine, Shyam Shah Medical College, Rewa, Madhya Pradesh, India Abstract: Rheumatoid arthritis (RA) is an autoimmune disorder which can be characterized by chronic inflammation of the joints. All joints of the body are prime targets for RA. Several genes which are associated with immunomodulatory functions could be associated with RA as well. In the present investigation we selected the genes which are involved in immunoregulation such as PTPN22 (protein tyrosine phosphatase, non-receptor type 22 (lymphoid)), and VDR (vitamin D receptor), and investigated the impacts of their polymorphism in RA susceptibility. One hundred and twelve patients were enrolled and 125 controls from similar ethnicity were selected for the present investigation. Genetic polymorphism was detected through the PCR-RFLP (polymerase chain reaction restriction fragment length polymorphism) method. The pattern of genotype, allele distribution, and carriage rate in the disease and control groups suggested a significant association of PTPN22-1858 T (rs2476601) carriage (carriage of “TT” and “CT”) in RA susceptibility. The pattern of genotype and allele distribution in the disease and control groups suggested a lack of association of VDR FokI (rs10735810) in RA susceptibility. Our findings revealed that the PTPN22 polymorphism is associated with RA, while, the VDR polymorphism is not associated with RA susceptibility. Keywords: rheumatoid arthritis, autoimmune disorder, genetic polymorphism, VDR, PTPN22