Genotypic and Allelic Association of HLA-DRB1 rs6457617 Gene Polymorphism in Rheumatoid Arthritis Patients with Concurrent Depression: A Case-Control Study

Iqra Anwar; Amena Rahim; Muhammad Afzal; Samarah Naeem; Tayba Saleha Hashmi; Amar Anwar

doi:10.37185/LnS.1.1.1032

Authors

Iqra Anwar Islamic International Medical College, Rawalpindi, Pakistan https://orcid.org/0000-0002-3346-4245
Amena Rahim Islamic International Medical College, Rawalpindi, Pakistan https://orcid.org/0000-0002-0623-1569
Muhammad Afzal Islamic International Medical College, Rawalpindi, Pakistan
Samarah Naeem Islamic International Medical College, Rawalpindi, Pakistan
Tayba Saleha Hashmi Islamic International Medical College, Rawalpindi, Pakistan
Amar Anwar Watim Medical & Dental College, Rawat, Pakistan https://orcid.org/0000-0002-2371-6138

DOI:

https://doi.org/10.37185/LnS.1.1.1032

Keywords:

Alleles, Arthritis Rheumatoid, Genetic, HLA-DRB1 Chains, Polymerase Chain Reaction, Polymorphism

Abstract

Objective: To assess the genotypic and allelic association of the HLA-DRB1 rs6457617 gene polymorphism in rheumatoid arthritis patients with concomitant depression.
Study Design: Case-control study.
Place and Duration of Study: The study was conducted at the Multidisciplinary Laboratory, Department of Biochemistry, Islamic International Medical College Trust, Rawalpindi, in collaboration with Pakistan Railway Hospital, Rawalpindi, Pakistan, from October 2021 to September 2022.
Methods: A total of 264 individuals were recruited using non-probability convenience sampling. The study included 132 clinically diagnosed cases of rheumatoid arthritis and 132 age-, gender-, and ethnicity-matched controls. Among the cases, 66 individuals had rheumatoid arthritis with no symptoms of depression (Group 1), while 66 had rheumatoid arthritis with concurrent depression (Group 2). Depression severity was evaluated using validated psychometric tools (DSM-5 criteria for major depressive disorder). After obtaining approval from the Ethical Review Committee, venous blood samples were collected from the subjects. DNA extraction was performed using the Chelex method, followed by ARMS PCR using specific primers to assess genotypic and
allelic frequencies from the collected samples.
Results: The genotypic frequencies of TT, TC, and CC genotypes in Group 1 were 30.3%, 48.5%, 21.2%, respectively. In Group 2, the corresponding frequencies were 22.7%, 53%, and 24.2%. The allelic frequencies of T and C genotypes were 54.5% and 45.5% in Group 1, compared to 49.2% and 50.8% in Group 2. Statistical analysis indicated a significant correlation between the HLA-DRB1 TC genotype and cases of rheumatoid arthritis without depression, OR= 0.42 (0.21–0.86), P=0.02.
Conclusion: The TC genotype of HLA-DRB1 rs6457617 demonstrates a protective effect in patients with rheumatoid arthritis patients lacking concomitant depression. These findings suggest that targeted screening for this specific genetic variant could assist clinicians in earlier risk screening and the development of tailored therapy. Further large-scale, multi-center studies are recommended to validate these results.

How to cite this: Anwar I, Rahim A, Afzal M, Naeem S, Hashmi TS, Anwar A. Genotypic and Allelic Association of HLA-DRB1 rs6457617
Gene Polymorphism in Rheumatoid Arthritis Patients with Concurrent Depression: A Case-Control Study. Life and Science. 2026; 7(3):
352-358. doi: http://doi.org/10.37185/LnS.1.1.1032