BACKGROUND: Blood pressure is a quantitative multifactorial trait influenced by environmental and genetic determinants. Although several candidate genes have been associated with the development of essential @entity101 , the mechanisms of individual susceptibility still remain unclear. Knowledge on the distribution of genetic polymorphisms in different populations is fundamental for the assessment of the predictive value of genetic variation. METHODS: We genotyped 300 healthy normotensive subjects from the Italian population for three polymorphisms, at the @entity2178 ( @entity2178 , M and T), @entity7743 (ATIR, A and C) and @entity1289 ( @entity1289 , D and I) genes. Polymorphisms were analyzed by polymerase chain reaction and restriction enzyme digestion. Statistical analysis was performed to verify the agreement with the Hardy-Weinberg equilibrium. RESULTS: The observed allelic distribution was in accordance with estimates reported for Caucasian populations. Variant allelic frequencies were 0.36 for the T and C alleles at the @entity2178 andAT1R locus and 0.47 for the I allele of the @entity1289 gene. @entity7743 and @entity1289 genotype frequencies were in Hardy-Weinberg equilibrium, while there was a deviation of the @entity2178 genotypes from those predicted by the equation. CONCLUSIONS: The studied polymorphisms are largely distributed in the Italian population sample, with a frequency of homozygous subjects for mutant alleles ranging from 9 to 22%. Epidemiology of mutations in the genes involved in blood pressure regulation provides tools to evaluate susceptibility to @entity101 .

Angiotensin-related genes involved in essential XXXX : allelic distribution in an Italian population sample.

@entity2178 :: ('183', 'Gene') :: ['AGT', 'angiotensinogen'] @entity7743 :: ('185', 'Gene') :: ['angiotensin II type 1 receptor', 'AT1R'] @entity1289 :: ('1636', 'Gene') :: ['ACE', 'angiotensin-converting enzyme'] @entity101 :: ('MESH:D006973', 'Disease') :: ['hypertension']
@entity101 :: (MESH:D006973,Disease) :: ['hypertension']
