C1019T polymorphism in the connexin 37 gene and myocardial infarction risk in premature coronary artery disease

Background: the C1019T polymorphism of the connexin-37 [GJA4] gene is a single-nucleotide polymorphisms involved in atherosclerotic plaque rupture and atherosclerosis predisposition. We examined the association between the C1019T polymorphism of the GJA4 gene and the occurrence of myocardial infarction [MI] in patients with premature coronary artery disease [CAD]

Methods: our study recruited 1000 patients with the final diagnosis of premature CAD and classified them into 2 groups: with a history of MI [n = 461] and without it [n = 539]. The polymorphism variants were determined via the PCR-RFLP, and then genotyping was conducted through the high-resolution melting method. From a total of 1000 patients, 554 patients, who had been previously followed-up with a median follow-up time of 45.74 months vis-à-vis long-term major adverse cardiac events, were enrolled in this retrospective cohort phase

Results: the frequencies of the wild, heterozygous, and mutant genotypes of the C1019T polymorphism were 54.0%, 40.6%, and 5.4% in the MI group and 49.2%, 43.2%, and 7.6% in the non-MI group [p value = 0.187]. After adjustment for the baseline covariates, no difference was found between the MI and non-MI groups apropos the frequency of the heterozygous genotype [p value = 0.625] and the mutant genotype [p value = 0.452]. Regarding the level of human connexin-37, the serum level of this marker was not different between the MI and non-MI groups

Conclusion: the C1019T polymorphism of the GJA4 gene may not be useful for predicting the occurrence of MI in patients with premature CAD. The presence of this polymorphism in such patients may also have a low value for predicting long-term CAD complications

Association between the hepatic lipase promoter region polymorphism [-514 C/T] and the presence and severity of premature coronary artery disease

Background: hepatic lipase [HL] plays a crucial role in lipid metabolism, but there is debate about whether HL acts in a more pro- or more anti-atherogenic fashion. We aimed to examine the relationship between the -514 C/T polymorphism within the HL gene [LIPC] and the risk of angiographically determined premature coronary artery disease [CAD]

Methods: four hundred seventy-one patients with newly diagnosed angiographically documented [>/= 50% luminal stenosis of any coronary vessel] premature CAD were compared to 503 controls [subjects with no luminal stenosis in coronary arteries]. A real-time polymerase chain reaction and high-resolution melting analysis was used to distinguish between the genotypes

Results: there was no significant difference in the distribution of -514 C/T genotypes between the 2 groups in the whole population or in the men, but the examined polymorphism was found to be associated with the presence of CAD in the women [p value = 0.029]. After the application of a multiple logistic regression model, the minor T allele of the LIPC gene was not found to be independently associated with the presence of CAD either in the total population [adjusted OR = 0.97, 95% CI = 0.75-1.25; p value = 0.807] or in the women [adjusted OR = 0.91, 95% CI = 0.59-1.40; p value = 0.650] and in the men [adjusted OR = 1.15, 95% CI = 0.81-1.64; p value = 0.437] separately

Conclusion: our findings suggest that there is no relationship between the LIPC -514 C/T and the risk of premature CAD or its severity in patients undergoing coronary angiography

Angiotensin- converting enzyme insertion/deletion polymorphism and its association with coronary artery disease in an Iranian population

The study of the association between genotype and phenotype is of great importance for the prediction of many diseases and pathophysiological conditions. The relationship between angiotensin-converting enzyme [ACE] gene insertion/ deletion [I/D] polymorphism and pathological processes such as coronary artery disease [CAD] has been investigated previously with discordant results. This study was designed to determine the association between ACE gene I/D polymorphism and CAD in an Iranian population. A total of 1050 individuals who were referred to Tehran Heart Center for coronary angiography were recruited. Six hundred seventy-six CAD-positive patients [documented by coronary angiography and Gensini scores higher than 6] and 374 CAD-negative patients were evaluated for ACE gene I/D polymorphism via the Polymerase Chain Reaction Amplification method. The patients' age, sex, smoking status and its duration as well as familial history of CAD, hypertension, and diabetes mellitus were recorded. Five hundred four [74.6%] of the CAD-positive patients were male, and the mean age of this group was 60 [60 +/- 10]. In the CAD-negative individuals, the mean age was 56 [56 +/- 10] and 196 of them were male [52.4%]. After the analysis of all the groups and gender subgroups, neither genotype nor allele frequency was significantly different between the CAD-positive and CAD-negative groups [p values for genotypes and allele frequencies were 0.494 and 0.397, respectively]. ACE gene I/D polymorphism was not associated with an increased risk of CAD in an Iranian population