Objective: Polymorphism in the vitamin D receptor (VDR) gene has been assoc
iated with variation in bone mineral density and with prostate cancer risk.
The purpose of this study was to determine whether polymorphism in the VDR
gene may also influence breast cancer risk.
Methods: Polymorphisms in the 5' and 3' ends of the VDR gene were genotyped
for 143 Latina women with breast cancer and 300 cohort controls.
Results: Both the BsmI and poly-A polymorphisms in the 3' end of the VDR ge
ne were associated with breast cancer risk, with a trend for increasing ris
k with increasing number of BsmI B alleles or short (S) poly-A alleles. Com
pared to subjects having two long poly-A alleles (genotype LL), odds ratios
(and 95% confidence intervals) were 1.5 (1.0-2.3) and 3.2 (1.5-6.9) for su
bjects having genotypes SL and SS, respectively. Compared to BsmI genotype
bb, odds ratios (and 95% confidence intervals) were 1.6 (1.1-2.5) and 2.2 (
1.0-4.7) for genotypes Bb and BB respectively. The start codon polymorphism
, FokI, was not associated with breast cancer risk.
Conclusion: These results suggest that polymorphic variation in or near the
3' end of the VDR gene influences breast cancer risk in Latina women.