Susceptibility Of CTLA-4 Gene With Development Of Rheumatoid Arthritis

Abstract

The study was conducted to identify the susceptibility of CTLA-4 gene in Rheumatoid Arthritis patients of Pakistani population. Case-control study was conducted based on 30 patients and 30 control. Blood samples were collected from Mayo Hospital Lahore, Punjab Pakistan. According to the World Health Organization criteria all patients were clinically diagnosed with Rheumatoid Arthritis and assessed for clinical parameters. Patients were with mean age of 52.4 and 51 years for males and females respectively. DNA was isolated from blood through phenol-chloroform method of extraction. Primers were optimized and genotyping was done by Polymerase Chain Reaction which was followed by DNA-sequencing and restriction fragment length polymorphism. As a result of polymorphism of A into G was identified on rs231775 polymorphic site on CTLA-4 gene. Male patients were overweight having 29.86 BMI value and female patients were obese having 30.1 BMI Indicate that they were at high risk of disease development. The mean age of male patients was 50.57 years and that of females was 45.69 years and among them 9 patients have positive family history of arthritis. A significant association was detected between allelic and genotypic frequencies of rs231775 and onset of RA (p=0.001). In conclusion rs231775 was significantly associated with onset of Rheumatoid Arthritis in Pakistan population and females are at higher risk. Further studies should be conducted on large scale to evaluate the association of CTLA-4 polymorphism with Rheumatoid Arthritis.