Quantitative trait loci predicting circulating sex steroid hormones in men from the NCI-Breast and Prostate Cancer Cohort Consortium (BPC3)
Open accessAbstract
Twin studies suggest a heritable component to circulating sex steroid hormones and sex hormone-binding globulin (SHBG). In the NCI-Breast and Prostate Cancer Cohort Consortium, 874 SNPs in 37 candidate genes in the sex steroid hormone pathway were examined in relation to circulating levels of SHBG (N = 4720), testosterone (N = 4678), 3 alpha-androstanediol-glucuronide (N = 4767) and 17beta-estradiol (N = 2014) in Caucasian men. rs1799941 in SHBG is highly significantly associated with circulating levels of SHBG (P = 4.52 x 10(-21)), consistent with previous studies, and testosterone (P = 7.54 x 10(-15)), with mean difference of 26.9 and 14.3%, respectively, comparing wild-type to homozygous variant carriers. Further noteworthy novel findings were observed between SNPs in ESR1 with testosterone levels (rs722208, mean difference = 8.8%, P = 7.37 x 10(-6)) and SRD5A2 with 3 alpha-androstanediol-glucuronide (rs2208532, mean difference = 11.8%, P = 1.82 x 10(-6)). Genetic variation in genes in the sex steroid hormone pathway is associated with differences in circulating SHBG and sex steroid hormones.
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For the rare homozygous AA genotype of rs1799941, an increase in both serum SHBG and T was observed as opposed to the reference genotype.
“Second, for the rare homozygous AA genotype of rs1799941, an increase in both serum SHBG and T was observed as opposed to the reference genotype [66, 69, 72, 73].”
From Role of sex hormone-binding globulin in the free hormone hypothesis and the relevance of free testosterone in androgen physiology (2022) · cites this paper as [72]
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Research works printed but not linked: 3
- Bagatel, C. and Bremner, W.J. (2003) Androgens in Health and Disease (Contemporary Endocrinology). Humana Press, Totowa, NJ.
- Henderson, B.E., Ponder, B. and Ross, R.K. (2003) Hormones, Genes, and Cancer. Oxford University Press, New York, NY.
- Gennari, L., Merlotti, D., De, P.V., Calabro, A., Becherini, L., Martini, G. and Nuti, R. (2005) Estrogen receptor gene polymorphisms and the genetics of osteoporosis: a HuGE review. Am. J. Epidemiol., 161, 307-320.
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- Authors
- Ahn, J., Schumacher, F. R., Berndt, S. I., Pfeiffer, R., Albanes, D., Andriole, G. L., Ardanaz, E., Boeing, H., Bueno-de-Mesquita, B., Chanock, S. J., Clavel-Chapelon, F., Diver, W. R., Feigelson, H. S., Gaziano, J. M., Giovannucci, E., Haiman, C. A., Henderson, B. E., Hoover, R. N., Kolonel, L. N., Kraft, P., Ma, J., Le Marchand, L., Overvad, K., Palli, D., Stattin, P., Stampfer, M., Stram, D. O., Thomas, G., Thun, M. J., Travis, R. C., Trichopoulos, D., Virtamo, J., Weinstein, S. J., Yeager, M., Kaaks, R., Hunter, D. J., & Hayes, R. B.
- Affiliations
- National Institutes of Health (US)
- University of Southern California (US)
- Washington University in St. Louis (US)
- German Institute of Human Nutrition (DE)
- National Institute for Public Health and the Environment (NL)
- American Cancer Society (US)
- Brigham and Women's Hospital (US)
- University of Hawaiʻi at Mānoa (US)
- Harvard University (US)
- Aalborg University Hospital (DK)
- Umeå University (SE)
- University of Oxford (GB)
- Finnish Institute for Health and Welfare (FI)
- German Cancer Research Center (DE)
- Corresponding author
- Hayes, Richard B.
- ORCID
- Ahn, Jiyoung
- Schumacher, Fredrick R.
- Berndt, Sonja I.
- Pfeiffer, Ruth
- Albanes, Demetrius
- Andriole, Gerald L.
- Boeing, Heiner
- Bueno-de-Mesquita, Bas
- Chanock, Stephen J.
- Diver, W. Ryan
- Feigelson, Heather Spencer
- Gaziano, J. Michael
- Giovannucci, Edward
- Haiman, Christopher A.
- Hoover, Robert N.
- Kolonel, Laurence N.
- Kraft, Peter
- Ma, Jing
- Overvad, Kim
- Palli, Domenico
- Stattin, Pär
- Stampfer, Meir
- Stram, Daniel O.
- Thomas, Gilles
- Travis, Ruth C.
- Weinstein, Stephanie J.
- Yeager, Meredith
- Kaaks, Rudolf
- Hayes, Richard B.
- Venue
- Human Molecular Genetics
- Publisher
- Oxford University Press (OUP)
- Published
- 2009-07-02
- Volume
- 18
- Issue
- 19
- Pages
- 3749-3757
- ISSN
- 0964-6906 (ISSN-L)
- 1460-2083
- PMC
- PMC2742399
- OpenAlex
- W2164955007
- Cited by
- 43
- References
- 0
- Citations by year
- 2026: 1 · 2025: 2 · 2024: 1 · 2022: 2 · 2020: 1 · 2019: 3 · 2018: 3 · 2016: 3 · 2015: 3 · 2014: 2 · 2013: 8 · 2012: 3
- FWCI
- 2.73
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Human Molecular Genetics (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Digital Access to Scholarship at Harvard (DASH) (Harvard University) (submittedVersion, cc-by)
- STM:n Hallinnonalan avoin julkaisuarkisto (Julkari) (submittedVersion)
- Funders
- National Institutes of Health
- National Cancer Institute (U01CA098710, UO1CA98233, UO1 CA98216, UO1-CA98758, U01CA098216, R01CA097193, U01CA098758, U01CA098233, UO1 CA98710)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Hormonal and reproductive studies
- Health Sciences › Medicine › Pulmonary and Respiratory Medicine › Prostate Cancer Treatment and Research
- Keywords
- sex hormones, sex hormone-binding globulin, testosterone, estradiol, quantitative trait loci, single nucleotide polymorphisms, ESR1, SRD5A2, heritability, men, genetic association
- MeSH terms
- Adult, Aged, Aged, 80 and over, Humans, Male, Middle Aged, Prostatic Neoplasms, Sex Hormone-Binding Globulin, Gonadal Steroid Hormones, 3-Oxo-5-alpha-Steroid 4-Dehydrogenase, Cohort Studies, Case-Control Studies, Quantitative Trait Loci, White People, Estrogen Receptor alpha
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