ABSTRACT
Three clinically important mutations; Two of the methyl-tetrahydrofolate reductase [MTHFR] gene namely C677T, A1298C, and insertion/deletion [I/D] polymorphism of the angiotensin converting enzyme [ACE] gene are reported to be associated with various pathological conditions. This study is planned in order to evaluate the association of genetic polymorphisms related to these genes with hypertension. These polymorphisms can be utilized as biomarkers for susceptibility and severity of the disorder with a potential impact on diagnosis and management. Participants included 117 cases [78 males and 39 females] with an age mean +/- SD of 50.93 +/- 15.43 years. They were hospitalized for hypertensive complications including cardiac affection [64.9%] and renal dysfunction [17.9%] or strokes [20%]. For comparison, 169, age and sex matched; with an age mean +/- SD of 47.65 +/- 11.15 normal healthy unrelated subjects [78 males and 91 females] were taken from the same locality as controls. For all participants, DNA was extracted followed by real-time PCR amplifications for characterization of genotypes and alleles related to MTHFR C677T, A1298C and ACE I/D gene polymorphisms. Compared to controls, cases showed significantly higher frequency of the heterozygous genotypes of MTHFR AC [52.1% vs. 36.5%, p<0.05] and ACE ID [96.5% vs. 43.5%, p<0.0001]. Cases showed also significantly higher MTHFR 1298 mutant C allele carriage rate with nonsignificant higher carriage rate for the MTHFR 677 mutant T allele and ACE mutant D allele. It was also noted that 74% of cases carried at least one of the 3 studied mutant forms. Comparing case-subgroups in terms of being either positive or negative for diabetes, cardiac, renal or cerebral complications and obesity showed non-significant difference related to the studied genotypes and alleles. This work shows that genetic polymorphisms related to the methyltetrahydrofolate reductase [MTHFR] and angiotensin converting enzyme [ACE] genes are associated probably with other environmental factors as that imposed by smoking and obesity. With the risk of hypertension among Saudi subjects from Qassim region