ABSTRACT
Angiotensin converting enzyme (ACE) gene polymorphism was previously studied in some cardiovascular diseases. There are only few studies which investigated this polymorphism in patients with rheumatic heart disease (RHD). The results of these investigations are inconsistent. Furthermore, gene polymorphism distribution is different in various ethnic populations. We conducted this study to demonstrate this gene polymorphism in Egyptian children with RHD. Leukocytes DNA was extracted from 139 patients with RHD and 79 healthy control children. After amplification by the PCR, the products were separated by electrophoresis in 6% polyacrylamide gel and visualized after ethidium bromide staining with UV light. The PCR product is a 190-bp fragment in the absence of the insertion (D allele) and a 490-bp fragment in the presence of the insertion (I allele). Gene polymorphism was as follows: DD gene when lane contains only 190-bp fragment, II gene when lane contains only 490-bp fragment and ID gene when lane contains both fragments. We found that gene polymorphism in both control and patients groups followed the following order of distribution from highest to lowest: ID, II, DD gene. The frequency in control group was 49.4, 36.7, and 13.9%, respectively. In patients groups, the gene frequency was 42.5, 30.9, and 26.6%, respectively. DD gene frequency differs significantly between the two groups. We concluded that patients with RHD have a higher ACE-DD genotype than normal control. ACE-DD genotype may be a risk factor for RHD in Egyptian children.
Subject(s)
Genetic Predisposition to Disease , Peptidyl-Dipeptidase A/genetics , Polymorphism, Single Nucleotide/genetics , Rheumatic Heart Disease/genetics , Alleles , Chi-Square Distribution , Child , Egypt , Female , Gene Frequency , Genotype , Humans , Male , Polymerase Chain Reaction , White People/geneticsABSTRACT
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.
