Methylenetetrahydrofolate reductase and angiotensin-converting enzyme gene polymorphisms among Saudi population from Qassim region.

Background: Hypertension and cardiac diseases are multifactorial disorders with genetic background determined by multiple gene polymorphisms.

Methods: This work included 273 healthy unrelated subjects ethnically belonging to the Qassim region. Their age ranged from 18 to 60 years, with a median age of 20 years. They included 152 (55.7%) men and 121 (44.3%) women. Their DNAs were analyzed for genetic polymorphisms of the methylenetetrahydrofolate reductase (MTHFR; 677C/T and 1298 A/C) as well as angiotensin-converting enzyme genes (ACE; insertion/deletion [I/D]) using real-time polymerase chain reaction.

Results: Carriers of the mutant MTHFR 677 T allele (CT + TT) and that of the 1298 C allele (CC + AC) constituted 33.7% and 48.9% of studied subjects, respectively, whereas carriers of ACE gene mutant D allele (DD + ID) represented 93.3% of subjects. The allele frequencies of MTHFR 677T, 1298C, and ACE D alleles were 18.7%, 29.45%, and 72.5%, respectively. Haplotype analysis of characterized chromosomes revealed that 2.5% were likely to carry the three mutant alleles together, 30.91% were likely to carry two of the three mutant alleles, and 51.92% were likely to carry one mutant allele.

Conclusion: The Saudi population from the Qassim region is a carrier of a relatively large number of genetic alleles predisposing them to hypertension and cardiac diseases. This gives a warning to local health authorities for adoption of competent programs for prevention as well as early diagnosis and management.