Rheumatology

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Lack of association between endothelial constitutive nitric oxide synthase (ecNOS 4 b/a) gene polymorphism and rheumatic heart disease
Modern Rheumatology, 10/16/09

Mohamed-mofeed FM et al. – Our aim in this work was to explore any possible association between ecNOS 4 b/a polymorphism and rheumatic heart disease (RHD)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.

• Leukocyte DNA extracted from 139 patients with RHD and 79 healthy control children
• After amplification by PCR, products were separated by electrophoresis in 6% polyacrylamide gel and visualized after ethidium bromide staining with UV light

• PCR resulted in 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 genotyping in control group gave the following results: b/b genotype (77.2%), b/a genotype (21.5%) and a/a genotype (1.3%)
• Frequencies in RHD group : b/b genotype (67.6%), b/a genotype (31.7%), and a/a genotype (0.7%)
• b allele/a allele ratio (88%/12%) in control group and (83.5%/16.5%) in RHD group

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