Genetic Insights Into Rheumatoid Arthritis: Investigating PADI4 And CD40 Single Nucleotide Polymorphism (SNP) In The Coimbatore District Population Of Tamil Nadu

Abstract

Rheumatoid arthritis (RA) is an autoimmune disease in patients affected nearly less than 1% of the global population. Peptidyl arginine deiminase 4 (PADI4) and Clustered Differentiation 40 (CD40) gene also has a significant role to play in the pathophysiology of RA. this study is conducted to detect the association between the two genetic markers PADIV and CD 40 in the RA positive patients in Coimbatore, Tamil Nadu. This is a cross sectional study performed in a tertiary care hospital in Coimbatore district of Tamil Nadu. The period of study was about four years from March 2020 – April 2024. About 3ml of blood samples from 80 seropositive and 80 seronegative were collected and stored in -20ºC. Single Nucleotide Polymorphism (SNP) primers for allelic specific TaqMan probe is designed for the detection of PADI4 (rs2240340) in chromosome 1 and CD40 (rs4810485) in chromosome 20 at position 17336144 and 46119308 respectively. All 160 (80+80) patient’s samples were employed for the detection of PADI4 and CD40 gene. SNPs of PADIV are more significant contributors of the disease development in RA conditions in the Asian population. In the present study, CD40 has expressed low in RF positive and negative patients compared to PADI4 gene. The combination of both markers CD40 and PADI4 do not show a statistically significant relationship with RF status in the present study. The study concludes that PADI4 shows a significant association with RF positivity and could be explored further as a genetic marker for disease risk.