Abstract
We investigated the risk associated with variants in three genes involved in estrogen biosynthesis,
CYP11A1
,
CYP17A1
, and
CYP19A1
, in the population-based case control study of Estrogen, Diet, Genetics, and Endometrial Cancer. This study was conducted in New Jersey in 2001–2006 with 417 cases and 402 controls. For
CYP11A1
, there was no association between the number of [TTTTA]
n
repeats (D15S520) and risk. For
CYP17A1
, risk was somewhat lower among women with the C/C genotype at T-34C (rs743572) (adjusted OR=0.65, 95% CI 0.41–1.02). For
CYP19A1
, risk was lower among women homozygous for the 3-base pair deletion (rs11575899) in exon 4 (adjusted OR=0.44, 95% CI 0.26–0.76), while the number of [TTTA]
n
repeats was not significantly related to risk: the adjusted OR for n=7/7 repeats vs n>7/>7 repeats was 0.81 (95% CI 0.54–1.23). In stratified analyses, results for
CYP19A1
were stronger among women with higher (>27.4) body mass index: for the homozygous deletion, OR=0.30 (95% CI 0.15–0.62); for the n=7/7 genotype, OR=0.49 (95% CI 0.26–0.93). The interaction between the n=7/7 genotype and BMI was statistically significant (p=0.01). The insertion/deletion variant in
CYP19A1
appears to be related to risk of endometrial cancer; risk associated with variants in this gene may vary according to BMI.