Blood pressure phenotypes in relation to the beta-adducin C1797T polymorphism in the European Project on Genes in Hypertension (EPOGH).
METHODS
The association of blood pressure (BP) with the beta-adducin C1797 T polymorphism was investigated in 388 men and 456 women aged 18-60 years recruited from three European populations (Cracow, Poland, n=300; Novosibirsk, Russian Federation, n=274; Mirano, Italy; n=270). Phenotypes included conventional measurements of BP obtained at the second contact with the subjects and 24-h ambulatory BP. Subjects were genotyped for the beta-adducin C1797 T polymorphism. Both a population-based association study and a family-based analysis were performed.


RESULTS
Urinary sodium excretion was higher in Cracow than in Mirano (241 versus 185 mmol/day, P<0.05) and intermediate in Novosibirsk (206 mmol/day). The beta-adducin T allele (15.2 versus 9.1%, P<0.0001) was more prevalent in Mirano than in the two Slavic centres. In both population-based and family-based association analyses, there was significant heterogeneity between Slavic and Italian subjects in the phenotype-genotype relationships with beta-adducin. Adjusted population-based analyses demonstrated that in the two Slavic centres, values of systolic pressure obtained by 24-h, daytime and night-time ambulatory monitoring, but not those measured by conventional sphygmomanometry at home, were significantly higher in T allele carriers than in CC homozygotes. These results were confirmed in the family-based analysis of offspring using a quantitative transmission disequilibrium test.


CONCLUSIONS
Phenotype-genotype associations involving blood pressure are influenced by the technique and conditions of the BP measurement as well as by the overall ecogenetic context.
D000293:Adolescent; D000328:Adult; D001794:Blood Pressure / Q000235:genetics*; D002148:Calmodulin-Binding Proteins / Q000235:genetics*; D003710:Demography; D005060:Europe / Q000453:epidemiology; D005192:Family Health; D005260:Female; D005838:Genotype; D006801:Humans; D006973:Hypertension / Q000235:genetics; D007558:Italy / Q000453:epidemiology; D008297:Male; D008875:Middle Aged; D017720:Molecular Epidemiology; D010641:Phenotype; D011044:Poland / Q000453:epidemiology; D020641:Polymorphism, Single Nucleotide; D012426:Russia / Q000453:epidemiology; D019371:Topography, Medical; D000099291:Adducins
D002148:Calmodulin-Binding Proteins; D000099291:Adducins