Vol.19 No.6

Original Article

Lack of association between endothelial constitutive nitric oxide synthase (ecNOS 4 b/a) gene polymorphism and rheumatic heart disease

Authors

Mohamed-mofeed Fawaz Morsy1,6 , Nada Abdelmohsen Abdelaziz2 , Ahmed Mohamed Boghdady3 , Hydi Ahmed4 , Essam Mohamed Abul Fadl5 , Mohamed Ali Ismai5

  • Department of Pediatrics and Pediatric Cardiology, Sohag University Hospital, Sohag, Egypt
  • Department of Microbiology and Immunology, Sohag University Hospital, Sohag, Egypt
  • Department of Internal Medicine, Sohag University Hospital, Sohag, Egypt
  • Department of Clinical Pathology, Sohag University Hospital, Sohag, Egypt
  • Department of Rheumatology, Sohag University Hospital, Sohag, Egypt
  • Department of Pediatrics, Sohag Faculty of Medicine, Sohag University, Sohag, Egypt
Received:

28 May 2009

Accepted:

4 August 2009

Published online:

25 September 2009

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Abstract

Our aim in this work was to explore any possible association between ecNOS 4 b/a polymorphism and rheumatic heart disease (RHD). In this study, leukocyte DNA was extracted from 139 patients with RHD and 79 healthy control children. After amplification by PCR, the products were separated by electrophoresis in 6% polyacrylamide gel and visualized after ethidium bromide staining with UV light. PCR resulted in a 420-bp fragment (ecNOS4b) when five 27-bp repeats were present in intron 4 of the ecNOS gene, a 393-bp product (ecNOS4a) when only four repeats were present, and 420-bp and 393-bp fragments in heterozygous individuals (ecNOS4b/a). ecNOS4b/a genotyping in the control group gave the following results: b/b genotype (77.2%), b/a genotype (21.5%) and a/a genotype (1.3%). The frequencies in RHD group were as follows: b/b genotype (67.6%), b/a genotype (31.7%), and a/a genotype (0.7%). The b allele/a allele ratio was (88%/12%) in the control group and (83.5%/16.5%) in the RHD group. We found no statistical difference in genotype or allele frequency between these groups. The present study is the first to study the association between ecNOS 4b/a gene polymorphism and RHD, and to find a lack of any association between them. Further investigations of this gene polymorphism alone and in combination with other genes should be encouraged.

Key words

Genetics - Nitric oxide - Polymorphism - RHD - Rheumatic fever