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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

Arvind Kumar Tripathi,1 Smriti Shukla,1 Mrigendra Kumar Dwivedi,1 Jitendra Kumar Tripathi,1 Ugam Kumari Chauhan,1 Manoj Indurkar,2 Shivam Singh1 1Centre for Biotechnology Studies, Awdhesh Pratap Singh University, 2Department of Medicine, Shyam Shah Medical College, Rewa, India Background: It is known that genetic and environmental factors may influence susceptibility to type 2 diabetes and its complications. Objective: In the investigation reported here we selected the peroxisome proliferator-activated receptor (PPAR) G2 (rs1801282) and ENPP1, also called PC-1 (rs1044498) gene polymorphisms to determine whether there is a genetic association between these, obesity, and type 2 diabetes. We also examined and environmental factors influencing type 2 diabetes. Design and methods: The study was carried out on a central Indian population of 190 diabetics and 210 healthy controls. Anthropometric data were collected during sample collection. A genetic polymorphism study of PPARG2 and ENPP1 was undertaken using a polymerase chain reaction restriction fragment length polymorphism method and the observed genotype frequencies, allele frequencies, and carriage rates of the PPARG2 and ENPP1 polymorphisms were recorded. Results: The patterns of genotype and allele distribution in both groups suggested a significant association between PPARG2 Pro12Ala major allele A carriage (AA carriage) and type 2 diabetes. Further, the results also show the protective effect of the minor allele G. Overall, we found that the distribution of ENPP1 K121Q genotypes was not significantly different between healthy controls and diabetic patients. Thus, ENPP1 polymorphism was not found to be associated with type 2 diabetes in a central Indian population. Body mass index was also found to be significantly higher in female diabetic patient group than in female healthy controls (P = 0.0388), while there was no significant difference in body mass index for males in the case group compared with in the control group. Conclusion: Our study indicates that PPARG2 and obesity have a strong association with type 2 diabetes but ENPP1 polymorphism lacks any association. Keywords: obesity, BMI, polymorphism, restriction fragment length polymorphism, peroxisome proliferator-activated receptors