Genetic Variations in Sex Steroid-Related Genes as Predictors of Serum Estrogen Levels in Men
(2009) In Journal of Clinical Endocrinology and Metabolism 94(3). p.1033-1041- Abstract
- Context: The risk of many conditions, including prostate cancer, breast cancer, and osteoporosis, is associated with serum levels of sex steroids. Objective: The aim of the study was to identify genetic variations in sex steroid-related genes that are associated with serum levels of estradiol (E2) and/or testosterone in men. Design: Genotyping of 604 single nucleotide polymorphisms in 50 sex steroid-related candidate genes was performed in the Gothenburg Osteoporosis and Obesity Determinants (GOOD) study (n = 1041 men; age, 18.9 +/- 0.6 yr). Replications of significant associations were performed in the Osteoporotic Fractures in Men (MrOS) Sweden study (n = 2568 men; age, 75.5 +/- 3.2 yr) and in the MrOS US study (n = 1922 men; age, 73.5... (More)
- Context: The risk of many conditions, including prostate cancer, breast cancer, and osteoporosis, is associated with serum levels of sex steroids. Objective: The aim of the study was to identify genetic variations in sex steroid-related genes that are associated with serum levels of estradiol (E2) and/or testosterone in men. Design: Genotyping of 604 single nucleotide polymorphisms in 50 sex steroid-related candidate genes was performed in the Gothenburg Osteoporosis and Obesity Determinants (GOOD) study (n = 1041 men; age, 18.9 +/- 0.6 yr). Replications of significant associations were performed in the Osteoporotic Fractures in Men (MrOS) Sweden study (n = 2568 men; age, 75.5 +/- 3.2 yr) and in the MrOS US study (n = 1922 men; age, 73.5 +/- 5.8 yr). Serum E2, testosterone, and estrone (E1) levels were analyzed using gas chromatography/mass spectrometry. Results: The screening in the GOOD cohort identified the single nucleotide polymorphism rs2470152 in intron 1 of the CYP19 gene, which codes for aromatase, responsible for the final step of the biosynthesis of E2 and E1, to be most significantly associated with serum E2 levels (P = 2 x 10(-6)). This association was confirmed both in the MrOS Sweden study (P = 9 x 10(-7)) and in the MrOS US study (P = 1 x 10(-4)). When analyzed in all subjects (n = 5531), rs2470152 was clearly associated with both E2 (P = 2 x 10(-14)) and E1 (P = 8 x 10(-19)) levels. In addition, this polymorphism was modestly associated with lumbar spine BMD (P < 0.01) and prevalent self-reported fractures (P < 0.05). Conclusions: rs2470152 of the CYP19 gene is clearly associated with serum E2 and E1 levels in men. (J Clin Endocrinol Metab 94: 1033-1041, 2009) (Less)
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- author
- organization
- publishing date
- 2009
- type
- Contribution to journal
- publication status
- published
- subject
- in
- Journal of Clinical Endocrinology and Metabolism
- volume
- 94
- issue
- 3
- pages
- 1033 - 1041
- publisher
- Oxford University Press
- external identifiers
-
- wos:000264020700048
- scopus:62349126794
- wos:000259411001447
- pmid:19116238
- pmid:19116238
- ISSN
- 1945-7197
- DOI
- 10.1210/jc.2008-1283
- language
- English
- LU publication?
- yes
- id
- 96b88cdc-ae15-4961-9fef-01377ce959ca (old id 1404815)
- alternative location
- http://www.ncbi.nlm.nih.gov/pubmed/19116238?dopt=Abstract
- date added to LUP
- 2016-04-01 14:56:16
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- 2024-05-23 08:37:00
@article{96b88cdc-ae15-4961-9fef-01377ce959ca,
abstract = {{Context: The risk of many conditions, including prostate cancer, breast cancer, and osteoporosis, is associated with serum levels of sex steroids. Objective: The aim of the study was to identify genetic variations in sex steroid-related genes that are associated with serum levels of estradiol (E2) and/or testosterone in men. Design: Genotyping of 604 single nucleotide polymorphisms in 50 sex steroid-related candidate genes was performed in the Gothenburg Osteoporosis and Obesity Determinants (GOOD) study (n = 1041 men; age, 18.9 +/- 0.6 yr). Replications of significant associations were performed in the Osteoporotic Fractures in Men (MrOS) Sweden study (n = 2568 men; age, 75.5 +/- 3.2 yr) and in the MrOS US study (n = 1922 men; age, 73.5 +/- 5.8 yr). Serum E2, testosterone, and estrone (E1) levels were analyzed using gas chromatography/mass spectrometry. Results: The screening in the GOOD cohort identified the single nucleotide polymorphism rs2470152 in intron 1 of the CYP19 gene, which codes for aromatase, responsible for the final step of the biosynthesis of E2 and E1, to be most significantly associated with serum E2 levels (P = 2 x 10(-6)). This association was confirmed both in the MrOS Sweden study (P = 9 x 10(-7)) and in the MrOS US study (P = 1 x 10(-4)). When analyzed in all subjects (n = 5531), rs2470152 was clearly associated with both E2 (P = 2 x 10(-14)) and E1 (P = 8 x 10(-19)) levels. In addition, this polymorphism was modestly associated with lumbar spine BMD (P < 0.01) and prevalent self-reported fractures (P < 0.05). Conclusions: rs2470152 of the CYP19 gene is clearly associated with serum E2 and E1 levels in men. (J Clin Endocrinol Metab 94: 1033-1041, 2009)}},
author = {{Eriksson, Anna L. and Lorentzon, Mattias and Vandenput, Liesbeth and Labrie, Fernand and Lindersson, Marie and Syvanen, Ann-Christine and Orwoll, Eric S. and Cummings, Steven R. and Zmuda, Joseph M. and Ljunggren, Osten and Karlsson, Magnus and Mellstrom, Dan and Ohlsson, Claes}},
issn = {{1945-7197}},
language = {{eng}},
number = {{3}},
pages = {{1033--1041}},
publisher = {{Oxford University Press}},
series = {{Journal of Clinical Endocrinology and Metabolism}},
title = {{Genetic Variations in Sex Steroid-Related Genes as Predictors of Serum Estrogen Levels in Men}},
url = {{http://dx.doi.org/10.1210/jc.2008-1283}},
doi = {{10.1210/jc.2008-1283}},
volume = {{94}},
year = {{2009}},
}