IL-6 (−174G>C) and Sickle Cell Disease; An Association Study.

Abstract

Aim: This study investigates the relationship between IL-6 (−174G>C) gene polymorphisms and sickle cell disease (SCD) in Indian patients, exploring whether these polymorphisms influence SCD progression.  Given the limited existing research on the association between IL-6 (−174G>C) polymorphisms and SCD phenotypes, this study aims to contribute to a better understanding of the role of cytokines in disease progression.

Methods:150 patients with SCD and 150 control subjects participated in this study.  Genotyping of IL-6 (−174G>C) polymorphisms was performed by genomic DNA extraction followed by PCR-RFLP.  The analysis of the data was done using SYSTAT (Version 13, SPSS Inc, Chicago, IL, USA).

Results: The G allele is significantly associated with the SCD. The chi-square test results gave a significant p-value of (0.000084). Statistically significant increase has been observed in GG genotypes of SCD patients when compared to controls (p= 0.00001). In a study on Egyptian SCD patients it was found that IL-6 –174 G>C polymorphism is associated with recurrent and severe attacks of vascular occlusion in SCD patients. In a study from north east Brazil on SCD patients it was observed that that the IL6 174 G>C polymorphism is associated with a risk of stroke in patients with SCD. In another study from Brazil no association was found between IL-6 and SCD.

Conclusion: The IL-6 (−174G>C) genetic polymorphism are significantly linked to SCD progression. Further research with larger patient groups is needed to fully elucidate the role of IL-6 (−174G>C) in SCD