Evidence From Humans
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Association of genetic polymorphisms in UGT1A1 with breast cancer and plasma hormone levels
Guillemette, C., De Vivo, I., Hankinson, S. E., Haiman, C. A., Spiegelman, D., Housman, D. E., Hunter, D. J. Cancer Epidemiology, Biomarkers and Prevention. 2001. 10:6, 711-4.
Topic area
Body size - Genetic variability
Study design
Nested case-control study
Funding agency
NIH, Medical Research Council of Canada
Study Participants
Menopausal Status
The menopausal status of women included in this study is listed here.
Pre menopausal
Post menopausal
Participant selection: Inclusion and exclusion criteria
Criteria used to select participants in the study.
Women in the Nurses' Health Study. Self-reported cases, confirmed by medical chart review identifying pathology confirmation of incident case status. Controls were matched on year of birth, menopausal status, postmenopausal hormone use, time of day/month/fasting status of blood draw.
Exposures investigated
BMI, UGT1A1 and CYP17 allele frequencies, used PCR-RFLP
How exposure was measured
Biological Questionnaire, self-administered
Ethnic groups with separate analysis
If this study provided a separate analysis by ethnic or racial group, the groups are listed here.
Confounders considered
Other breast cancer risk factors, such as family history, age at first birth, and hormone replacement therapy use, that were taken into account in the study.
Adequately controlled
Genetic characterization included
If the study analyzed relationships between environmental factors and inherited genetic variations, this field will be marked “Yes.” “No”, if not.
Description of major analysis
Logistic regression analysis of genotypes and breast cancer, including effect modification by BMI
Strength of associations reported
Women homozygous UGT1A1*28, showed an adjusted RR=0.80 (CI:.049-1.29) for BC; Slightly higher non-significant RR for premenopausal women compared to postmenopausal women
Having both the UGT1A1*28 and the CYP17*A2 did not affect BC risk estimates
Circulating estradiol levels were higher in women with at least one UGT1A1*28 allele and BMI >27 (within BMI, a nonsignificant increase of 17.5%, p=0.09) compared to UGT1A1*1 homozygotes
Estrone and estradiol showed nonsignificant increases in women with BMI >27 and at least one UGT1A1*28 allele and one CYP17*A2 allele
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