ALPHA-ADDUCIN GENE POLYMORPHISM AND CARDIOVASCULAR PHENOTYPES IN A GENERAL-POPULATION

Background Previous studies have shown that molecular variants of the cytoskeletal protein adducin may be involved in regulation of blood pr essure both in genetic rat hypertension and in human essential hyperte nsion. Objective To investigate the relationship of genetic polymorphi sm of a-adducin with blood pressure, cardiovascular structure, and som e biochemical indexes of cardiovascular risk in a sample of general po pulation. Design and methods A sample of 246 subjects (124 men and 122 women, aged 57.7 +/- 3.7 years) was randomly chosen from a middle-age d population. Twenty-four-hour ambulatory blood pressure, as well as l eft ventricular mass (by echocardiographic methods) and carotid wall t hickness (by B-mode ultrasound methods) were measured. DNA was extract ed from peripheral blood samples; the Gly460Trp diallelic variant of h uman a-adducin was genotyped by polymerase chain reaction amplificatio n and then allele-specific oligo hybridization. Results A trend toward higher 24 h ambulatory blood pressure values in subjects not treated with antihypertensive drugs was observed among carriers of Trp460 alle le, although the differences did not attain statistical significance ( at closest, P = 0.066 for a dominant effect of Trp460 on systolic bloo d pressure). When blood pressure was considered a dichotomous variable , allowing the inclusion of treated hypertensives), a higher prevalenc e of Trp460 allele among hypertensives was observed (0.188 versus 0.10 6 among normotensives, P = 0.02). There was no evidence of association either of left ventricular mass or of common carotid wall thickness w ith Gly460Trp polymorphism. Conclusions In this sample of a general po pulation, the relationship of a genetic polymorphism of a-adducin with blood pressure values was rather weak. However, a population-based ca se-control analysis indicated that there was an association between Tr p460 allele and hypertension, with a relative risk for subjects carryi ng at least one Trp460 allele of approximately 1.6. Further investigat ion of larger and different population samples in order to assess the role of adducin gene polymorphism as a marker of genetic predispositio n to the development of hypertension is warranted. (C) Rapid Science P ublishers ISSN 0263-6352.