Please use this identifier to cite or link to this item: https://doi.org/10.1186/bcr2488
Title: Genetic variation in the estrogen metabolic pathway and mammographic density as an intermediate phenotype of breast cancer
Authors: Li, J 
Eriksson, L
Humphreys, K
Czene, K
Liu, J
Tamimi, R.M
Lindström, S
Hunter, D.J
Vachon, C.M
Couch, F.J
Scott, C.G
Lagiou, P
Hall, P
Keywords: estrogen
estrogen
adult
aged
allele
androgen synthesis
article
breast cancer
controlled study
estrogen metabolism
gene frequency
genetic association
genetic variability
human
major clinical study
mammography
phenotype
single nucleotide polymorphism
breast tumor
case control study
female
genetics
metabolism
methodology
middle aged
pathology
regression analysis
signal transduction
single nucleotide polymorphism
Aged
Breast Neoplasms
Case-Control Studies
Estrogens
Female
Humans
Mammography
Middle Aged
Phenotype
Polymorphism, Single Nucleotide
Regression Analysis
Signal Transduction
Issue Date: 2010
Citation: Li, J, Eriksson, L, Humphreys, K, Czene, K, Liu, J, Tamimi, R.M, Lindström, S, Hunter, D.J, Vachon, C.M, Couch, F.J, Scott, C.G, Lagiou, P, Hall, P (2010). Genetic variation in the estrogen metabolic pathway and mammographic density as an intermediate phenotype of breast cancer. Breast Cancer Research 12 (2) : R19. ScholarBank@NUS Repository. https://doi.org/10.1186/bcr2488
Rights: Attribution 4.0 International
Abstract: Introduction: Several studies have examined the effect of genetic variants in genes involved in the estrogen metabolic pathway on mammographic density, but the number of loci studied and the sample sizes evaluated have been small and pathways have not been evaluated comprehensively. In this study, we evaluate the association between mammographic density and genetic variants of the estrogen metabolic pathway.Methods: A total of 239 SNPs in 34 estrogen metabolic genes were studied in 1,731 Swedish women who participated in a breast cancer case-control study, of which 891 were cases and 840 were controls. Film mammograms of the medio-lateral oblique view were digitalized and the software Cumulus was used for computer-assisted semi-automated thresholding of mammographic density. Generalized linear models controlling for possible confounders were used to evaluate the effects of SNPs on mammographic density. Results found to be nominally significant were examined in two independent populations. The admixture maximum likelihood-based global test was performed to evaluate the cumulative effect from multiple SNPs within the whole metabolic pathway and three subpathways for androgen synthesis, androgen-to-estrogen conversion and estrogen removal.Results: Genetic variants of genes involved in estrogen metabolism exhibited no appreciable effect on mammographic density. None of the nominally significant findings were validated. In addition, global analyses on the overall estrogen metabolic pathway and its subpathways did not yield statistically significant results.Conclusions: Overall, there is no conclusive evidence that genetic variants in genes involved in the estrogen metabolic pathway are associated with mammographic density in postmenopausal women. © 2010 Li et al.; licensee BioMed Central Ltd.
Source Title: Breast Cancer Research
URI: https://scholarbank.nus.edu.sg/handle/10635/183269
ISSN: 14655411
DOI: 10.1186/bcr2488
Rights: Attribution 4.0 International
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