4 research outputs found
Interaction between vitamin D receptor genotype and estrogen receptor alpha genotype influences vertebral fracture risk
In view of the interactions of vitamin D and the estrogen endocrine
system, we studied the combined influence of polymorphisms in the estrogen
receptor (ER) alpha gene and the vitamin D receptor (VDR) gene on the
susceptibility to osteoporotic vertebral fractures in 634 women aged 55 yr
and older. Three VDR haplotypes (1, 2, and 3) of the BsmI, ApaI, and TaqI
restriction fragment length polymorphisms and three ERalpha haplotypes (1,
2, and 3) of the PvuII and XbaI restriction fragment length polymorphisms
were identified. We captured 131 nonvertebral and 85 vertebral fracture
cases during a mean follow-up period of 7 yr. ERalpha haplotype 1 was
dose-dependently associated with increased vertebral fracture risk (P <
0.001) corresponding to an odds ratio of 1.9 [95% confidence interval
(CI), 0.9-4.1] per copy of the risk allele. VDR haplotype 1 was
overrepresented in vertebral fracture cases. There was a significant
interaction (P = 0.01) between ERalpha haplotype 1 and VDR haplotype 1 in
determining vertebral fracture risk. The association of ERalpha haplotype
1 with vertebral fracture risk was only present in homozygous carriers of
VDR haplotype 1. The risk of fracture was 2.5 (95% CI, 0.6-9.9) for
heterozygous and 10.3 (95% CI, 2.7-40) for homozygous carriers of ERalpha
haplotype 1. These associations were independent of bone mineral density.
In conclusion, interaction between ERalpha and VDR gene polymorphisms
leads to increased risk of osteoporotic vertebral fractures in women,
largely independent of bone mineral density
Interaction between vitamin D receptor genotype and estrogen receptor alpha genotype influences vertebral fracture risk
In view of the interactions of vitamin D and the estrogen endocrine
system, we studied the combined influence of polymorphisms in the estrogen
receptor (ER) alpha gene and the vitamin D receptor (VDR) gene on the
susceptibility to osteoporotic vertebral fractures in 634 women aged 55 yr
and older. Three VDR haplotypes (1, 2, and 3) of the BsmI, ApaI, and TaqI
restriction fragment length polymorphisms and three ERalpha haplotypes (1,
2, and 3) of the PvuII and XbaI restriction fragment length polymorphisms
were identified. We captured 131 nonvertebral and 85 vertebral fracture
cases during a mean follow-up period of 7 yr. ERalpha haplotype 1 was
dose-dependently associated with increased vertebral fracture risk (P <
0.001) corresponding to an odds ratio of 1.9 [95% confidence interval
(CI), 0.9-4.1] per copy of the risk allele. VDR haplotype 1 was
overrepresented in vertebral fracture cases. There was a significant
interaction (P = 0.01) between ERalpha haplotype 1 and VDR haplotype 1 in
determining vertebral fracture risk. The association of ERalpha haplotype
1 with vertebral fracture risk was only present in homozygous carriers of
VDR haplotype 1. The risk of fracture was 2.5 (95% CI, 0.6-9.9) for
heterozygous and 10.3 (95% CI, 2.7-40) for homozygous carriers of ERalpha
haplotype 1. These associations were independent of bone mineral density.
In conclusion, interaction between ERalpha and VDR gene polymorphisms
leads to increased risk of osteoporotic vertebral fractures in women,
largely independent of bone mineral density
Association of 5' estrogen receptor alpha gene polymorphisms with bone mineral density, vertebral bone area and fracture risk
This study investigates the influence of genetic variation of the estrogen receptor alpha (ESR1) gene locus on several bone parameters in 2042 individuals of The Rotterdam Study, a prospective population-based cohort study of elderly subjects. We analysed three polymorphic sites in the 5' region of the ESR1 gene; a (TA)(n)-repeat in the promoter region, and molecular haplotypes of the PvuII and XbaI RFLPs in intron 1, and inferred long-range haplotypes (LRH) thereof. We observed only three of the possible four PvuII-XbaI haplotypes in our population. A comparison with other Caucasian populations showed similar haplotype frequencies, while in Asian and African populations these were different. Linkage disequilibrium (LD) analysis between the PvuII-XbaI haplotype and the (TA)(n) repeat showed strong LD between the two sites. Reconstruction of long range haplotypes over the entire 5' region, revealed six frequent LRH. In men, we did not observe an association between the ESR1 polymorphisms studied
Height in pre- and postmenopausal women is influenced by estrogen receptor alpha gene polymorphisms
The estrogen receptor alpha gene (ESR1) is known to be involved in metabolic pathways influencing growth. We have performed two population-based association studies using three common polymorphisms within this candidate gene to determine whether these are associated with variation in adult stature. In 607 women, aged 55-80 yr, from the Rotterdam Study, the ESR1 PvuII-XbaI haplotype 1 (px) and the L allele of the TA repeat polymorphism (<18 TA repeats) were significantl