MOLECULAR EVALUATION OF ENOS RS1799983 T

Abstract

Background: Under the genetic factors, namely eNOS rs1799983 T<C have become an important tool to study the mechanism that underlies the pathogenesis of this disease. Therefore, we investigated the association of eNOS rs1799983 T<C gene variations with susceptibility of Sickle cell disease.

Methods: This study was conducted on 100 Sickle cell disease patients and 117 matched healthy individuals. Genotyping of the eNOS rs1799983 T<C gene variation was performed by using amplification refractory mutation system PCR method (ARMS-PCR).

Results: The distribution of eNOS rs1799983 T<C genotypes observed between patients and controls was significantly different (P=0.048). Moreover, the frequency of G allele (fG) was found to be significantly higher among patients than in controls (0.36 vs. 0.25). Our findings showed that the Hsa-miR-146a-5p C>G variant was associated with an increased risk of CAD in codominant inheritance model CC vs. CG genotype (OR = 1.84, 95 % CI, 1.02-3.31; p=0.040) and (OR = 3.18, 95 % CI, 1.02-9.9; p=0.045) for CC vs. GG genotype in dominant inheritance model. Whereas the G allele significantly increased the risk of coronary artery disease (OR =1,81, 95 % CI, 1.18-2.78; p=0.006) compared to C allele.

Conclusion: Our findings indicated that eNOS rs1799983 T<C (E298D) genotype and G allele are associated with an increased susceptibility to Sickle cell disease. A larger sample size can be the key to progress in establishing the genetic co-relation of miRNA gene polymorphisms and Sickle cell disease.