Sex-specific association between estrogen receptor-alpha gene variation and measures of adiposity: the Framingham Heart Study.
J Clin Endocrinol Metab
; 90(11): 6257-62, 2005 Nov.
Article
em En
| MEDLINE
| ID: mdl-16144952
ABSTRACT
BACKGROUND:
Polymorphisms in estrogen receptor-alpha (ESR1) may be associated with variation in body mass index and waist circumference. However, most prior studies have been limited by sample size and power.METHODS:
DNA from 1763 unrelated men and women (mean age, 56 yr) from the Framingham Heart Study offspring cohort was genotyped for four ESR1 polymorphisms T30C (rs2077647) in exon 1, PvuII (rs2234693), and XbaI (rs 9340799) in intron 1, and C1335G (rs 1801132) in exon 4.RESULTS:
Men homozygous for the PvuII C allele (frequency, 0.45) had lower waist circumference (99.3 cm), compared with TT homozygous men (99.8 cm) and heterozygotes (100.6 cm) (P < 0.004). Similar results were obtained with XbaI, which lies in the same linkage disequilibrium block. C1335G also demonstrated a gender-specific association men with CG or GG genotypes had lower mean body mass index, 27.7 and 27.9 kg/m2 respectively, compared with 28.6 kg/m2 among the CC homozygotes (P < 0.01). No significant associations were seen with T30C, nor were associations observed among women.CONCLUSIONS:
Polymorphisms in ESR1 are associated with measures of adiposity in men. These associations further support the hypothesis that the intron 1 region of ESR1 influences phenotypes important for cardiovascular risk.
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Base de dados:
MEDLINE
Assunto principal:
Polimorfismo Genético
/
Receptor alfa de Estrogênio
/
Adiposidade
Tipo de estudo:
Risk_factors_studies
Limite:
Adult
/
Female
/
Humans
/
Male
/
Middle aged
Idioma:
En
Revista:
J Clin Endocrinol Metab
Ano de publicação:
2005
Tipo de documento:
Article
País de afiliação:
Estados Unidos