IL-1β (+3954C>T) Polymorphism in Sickle Cell Disease: A Call for Larger-Scale Studies

Abstract

 Aim: The present study is aimed to evaluate the association of IL-1 β +3954 polymorphisms in Indian patients with SCD and also to determine whether this polymorphism plays a role in the progression of SCD. Since there are few studies on IL-1B+3954 polymorphisms and SCD phenotypes this may be helpful in understanding disease progression with regard to cytokines.

Methods: The study included 150 SCD patients and 150 control. Genomic DNA extraction and  PCR- RFLP techniques were  used  for  genotyping IL-1 β +3954 polymorphisms   Statistical  analysis  was  performed using SPSS.

Results: Contrasting results were obtained in this study. Among Brazilian SCD patients the IL-1 β +3954 polymorphisms were involved in disease progression where as in our study and from studies from Egypt no association was found.

Conclusion: The IL-1β (+3954C>T) genetic polymorphism was not significantly linked to SCD phenotypes in this study. To fully understand its potential involvement in SCD, larger patient cohorts should be investigated.