Genetic polymorphisms in the interleukin 6 gene (IL-6) and its promoter regions have extensively been studied because of their potential role in the pathogenesis of rheumatoid arthritis (RA). Due to the confounding results, reported in several studies, we performed the systematic literature search on IL-6 -572 G/C polymorphism (rs1800796 SNP) and assessed its association with RA in the overall world population, and in the subgroup analysis of Asian and Caucasian populations. The results showed that in overall population, IL-6 -572 G/C shows a significant association towards increased risk of RA in allelic (OR=0.8130, 95%CI=0.708-0.932, p=0.003), co-dominant and dominant models; same hold true for the Asian population. Stratification by ethnicity revealed that in Asian population also, the association with RA manifestation is significant. However, in a cohort of 200 RA and 176 healthy subjects (n=376) from Pakistan, significant association between IL-6 -572 G/C polymorphism and progressive RA could not be established despite the fact that GG genotype exhibited higher susceptibility (p=0.088) towards RA in comparison with the CC counterpart (p=0.803). Further, using STRING software, we tried to elucidate the interconnection between different ILs and their combinatorial effect on the RA development and/ or progression. In conclusion, our study suggests that the analyses of single- and multiple nucleotide polymorphisms in larger cohorts, originating from diverse ethnic groups, are imperative to ascertain the genetic contributors of RA in a specific population.
|Journal||Pakistan Journal of Zoology|
|Publication status||Published - Apr 2021|
Bibliographical noteFunding Information:
All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional research committee and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards. This study was supported by a grant from Higher Education Commission, Government of Pakistan (Grant No. 8488/2017). Authors are thankful to all RA patients who volunteered to provide the blood samples for this study. Informed consent was obtained from all individual participants included in the study.
Copyright © 2021 Zoological Society of Pakistan
- Genetic polymorphism
- Rheumatoid arthritis
- Single nucleotide polymorphism