Rheumatoid arthritis and genetic variations in cytokine genes: a population-based study in Kashmir Valley

Abstract

Objective: The aim of our study was to determine the genetic associations between polymorphisms of the IL1β gene (−511C/T and +3953C/T) and IL6 gene (−174G/C) with disease susceptibility and severity in patients with rheumatoid arthritis (RA) in ethnic Kashmiri population.

Methods: Allele and genotype frequencies of IL1β −511 C/T, IL1β +3953 C/T and IL6 −174 G/C polymorphisms were compared between 150 RA patients and 200 healthy controls by using PCR-RFLP method.

Results: We did not find any significant association between IL1b +3953 C/T and IL6 −174 G/C polymorphism and Rheumatoid Arthritis risk (p > 0.05), but IL1β +3953 CT genotype was associated significantly with increased SJC and ESR and IL6 −174 GG genotype was associated significantly with increased ESR. However IL1b −511C/T polymorphism was significantly associated with rheumatoid arthritis risk and the carriers of IL1β −511 ‘C’ allele (CC and TC genotypes) appeared to have lower risk for RA development.

Conclusion: Our findings suggest that the IL1b −511 ‘C’ allele has a protective role from disease development. Furthermore our results suggest a possible role of IL1b +3953 CT and IL6 −174 GG genotypes as disease activity markers of rheumatoid arthritis.

• Interleukin
• Kashmir
• polymorphism
• RFLP
• rheumatoid arthritis

Acknowledgements

We are grateful to the Head and Staff of Division of Rheumatology, Department of General Medicine and Department of Physical Medicine and Rehabilitation, SKIMS, who helped us in the sample procurement.