High D Allele Frequency of ACE I/D Gene Polymorphism in Familial Hypertension in Javanese Indonesian

Hypertension is considered as a multifactorial trait resulting from a combination of environmental and genetic factors. There are many genetic polymorphisms associated with hypertension. Polymorphisms of the genes coded with components of the renin angiotensin aldosterone system (RAAS) may influence the pathogenesis of essential hypertension. Recent studies have shown that D allele and the association with higher prevalence of hypertension is still an issue of debate and not established. There was a wide ethnic variation in ACE gene polymorphism. The objective of the present study was to investigate ACE I/D gene 287 bp polymorphism among hypertensive subjects with and without a history of family hypertension in a Javanese population. A cross sectional study was conducted in a community-based study in the districts of Sleman-Yogyakarta. There were 12,073 subjects more than 17 years old and 7695 in the 30-59 age range. Subjects were grouped as normotension, pre-hypertension and hypertension. Stratified randomized sampling was conducted to select 82 subjects with familial hypertension and 74 with non-familial hypertension in this study. Genotypes of the ACE gene polymorphisms (II/ID/DD) were determined using polymerase chain reaction (PCR) at the Biochemistry Laboratory, Faculty of Medicine Gadjah Mada University, Yogyakarta, Indonesia. The results showed that genotypic frequencies in the familial group versus the non-familial were 42 (51.2%) vs 57 (77%) II, 36 (43.9%) vs 15 (20.3%) ID and 4 (5%) vs 2 (2.7%) DD, p=0.002. The allelic frequencies were 120 (73.2%) vs 129 (87.2%) I and 44 (26.8%) vs 19 (12.8%) D allele, p=0.002. The genotype frequency in men with familial hypertension was higher than that of the non-familial group 22 (47.9%) vs 8 (21.6%) ID, p=0.004. Frequencies of D allele ACE gene and DD/ID genotypes in familial hypertensive subjects were higher than in non-familial subjects. The D allele frequency in women in the familial hypertensive group was higher than that in the non-familial group.