ESR1 genetic variants, haplotypes and the risk of coronary heart disease and ischemic stroke in the Finnish population: a prospective follow-up study.
Association of estrogen receptor 1 (ESR1) gene variants and risk of coronary heart disease (CHD) and ischemic stroke was evaluated in the FINRISK-study. From 14,140 individuals, 2225 were selected for genotyping using a case-cohort design. Time-to-event analysis showed that the CC genotype of -397T/C ERS1 gene contributed to higher risk of CHD only in men (HR, 1.68, CI 1.03-2.74). The -351A/G polymorphism was not independently associated with CHD. Haplotype analysis of these two variants indicated that in men, haplotype TA conferred lower risk of CHD (HR=0.72, CI 0.55-0.95), whereas men with haplotype CA had 1.8 higher risk of CHD events (CI 1.21-2.77), compared to other haplotypes. No association was found with ischemic stroke. Our study suggests that the minor allele -397C of the ESR1 gene confers risk of CHD among Finnish men, both in homozygous state and as part of a haplotype with the -351A allele.
Kunnas
Tarja
T
Department of Medical Biochemistry, Medical School, University of Tampere, and Research Unit of the Laboratory Centre, Tampere University Hospital, Tampere, Finland. tarja.kunnas@uta.fi
Silander
Kaisa
K
Karvanen
Juha
J
Valkeapää
Maria
M
Salomaa
Veikko
V
Nikkari
Seppo
S
D000328:Adult; D000368:Aged; D003327:Coronary Disease / Q000209:etiology / Q000235:genetics*; D047628:Estrogen Receptor alpha / Q000235:genetics*; D005260:Female; D005387:Finland; D006239:Haplotypes; D006801:Humans; D008137:Longitudinal Studies; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D012306:Risk; D020521:Stroke / Q000235:genetics*
C506487:ESR1 protein, human; D047628:Estrogen Receptor alpha