Study of the Relation between E23K Single Nucleotide Polymorphism of KCNJ11 Gene and Probability of Coronary Heart Disease in Iran

Introduction: The G to A mutation in KCNJ11 the ATP-sensitive potassium channel subunit, results in glutamate (E) to lysine (K) substitution at codon 23, and the A allele is shown to have a relationship with type II diabetes in our previous study. Their role in coronary heart disease (CHD) is not exactly obvious. We hypothesized that the polymorphism would be associated with increased susceptibility to CHD. Methods: The E23K gene polymorphism of KCNJ11 gene was analyzed by PCR-restriction fragment length polymorphism (PCR-RFLP) methods in 55 controls and 73CHD patients. Serum lipids and Fasting Blood Sugar concentrations were measured in all subjects. Results: Among the CHD patients, the frequency of the A allele was higher (34.9% vs. 26.4%, P0.05) than among controls. No significant differences were found in allele frequencies between CHD and controls (P>0.05). Also, there were no significant differences in GG and combined (GA+AA) genotypes frequencies (42.5% vs. 56.4%, and 57.5% vs. 43.6%, P>0.05). Conclusion: The E23K gene polymorphism in KCNJ11 gene has no association with the high susceptibility to CHD

A single nucleotide polymorphism -1131T>C in the apolipoprotein A5 gene modulates the levels of triglyceride

Background: The recently discovered apolipoprotein A5 (APOA5) gene has been shown to be important in determining plasma triglyceride (TG) levels, a major cardiovascular disease risk factor. We searched for possible associations of the APOA5 gene polymorphisms -1131T>C with the levels of TG in an Iranian population. Methods: A total of 128 Iranians (73 cases with coronary heart disease CHD and 55 normal subjects) were genotyped by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) for this single nucleotide polymorphism. Results: Allele frequencies observed in our population were 0.152 for the C allele and 0.848 for the T allele, which are similar to Caucasian populations (P=0.355). Conclusions: As expected, we observed a strong association between the APOA5 -1131C allele and elevated plasma TG levels. Total cholesterol heterozygotes and CC homozygotes have significantly higher TG levels (2.76 ± 1.30 mmol/L) than TT homozygous individuals in the CHD group (2.05 ± 1.15 mmol/L, P=0.027). This trend was also present in the normal subjects (P=0.014)