Genetic variations in the androgen receptor are associated with steroid concentrations and anthropometrics but not with muscle mass in healthy young men
The relationship between serum testosterone (T) levels, muscle mass and muscle force in eugonadal men is incompletely understood. As polymorphisms in the androgen receptor (AR) gene cause differences in androgen sensitivity, no straightforward correlation can be observed between the interindividual...
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description | The relationship between serum testosterone (T) levels, muscle mass and muscle force in eugonadal men is incompletely understood. As polymorphisms in the androgen receptor (AR) gene cause differences in androgen sensitivity, no straightforward correlation can be observed between the interindividual variation in T levels and different phenotypes. Therefore, we aim to investigate the relationship between genetic variations in the AR, circulating androgens and muscle mass and function in young healthy male siblings.
677 men (25-45 years) were recruited in a cross-sectional, population-based sibling pair study.
Relations between genetic variation in the AR gene (CAGn, GGNn, SNPs), sex steroid levels (by LC-MS/MS), body composition (by DXA), muscle cross-sectional area (CSA) (by pQCT), muscle force (isokinetic peak torque, grip strength) and anthropometrics were studied using linear mixed-effect modelling.
Muscle mass and force were highly heritable and related to age, physical activity, body composition and anthropometrics. Total T (TT) and free T (FT) levels were positively related to muscle CSA, whereas estradiol (E2) and free E2 (FE2) concentrations were negatively associated with muscle force. Subjects with longer CAG repeat length had higher circulating TT, FT, and higher E2 and FE2 concentrations. Weak associations with TT and FT were found for the rs5965433 and rs5919392 SNP in the AR, whereas no association between GGN repeat polymorphism and T concentrations were found. Arm span and 2D:4D finger length ratio were inversely associated, whereas muscle mass and force were not associated with the number of CAG repeats.
Age, physical activity, body composition, sex steroid levels and anthropometrics are determinants of muscle mass and function in young men. Although the number of CAG repeats of the AR are related to sex steroid levels and anthropometrics, we have no evidence that these variations in the AR gene also affect muscle mass or function. |
doi_str_mv | 10.1371/journal.pone.0086235 |
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677 men (25-45 years) were recruited in a cross-sectional, population-based sibling pair study.
Relations between genetic variation in the AR gene (CAGn, GGNn, SNPs), sex steroid levels (by LC-MS/MS), body composition (by DXA), muscle cross-sectional area (CSA) (by pQCT), muscle force (isokinetic peak torque, grip strength) and anthropometrics were studied using linear mixed-effect modelling.
Muscle mass and force were highly heritable and related to age, physical activity, body composition and anthropometrics. Total T (TT) and free T (FT) levels were positively related to muscle CSA, whereas estradiol (E2) and free E2 (FE2) concentrations were negatively associated with muscle force. Subjects with longer CAG repeat length had higher circulating TT, FT, and higher E2 and FE2 concentrations. Weak associations with TT and FT were found for the rs5965433 and rs5919392 SNP in the AR, whereas no association between GGN repeat polymorphism and T concentrations were found. Arm span and 2D:4D finger length ratio were inversely associated, whereas muscle mass and force were not associated with the number of CAG repeats.
Age, physical activity, body composition, sex steroid levels and anthropometrics are determinants of muscle mass and function in young men. Although the number of CAG repeats of the AR are related to sex steroid levels and anthropometrics, we have no evidence that these variations in the AR gene also affect muscle mass or function.</description><identifier>ISSN: 1932-6203</identifier><identifier>EISSN: 1932-6203</identifier><identifier>DOI: 10.1371/journal.pone.0086235</identifier><identifier>PMID: 24465978</identifier><language>eng</language><publisher>United States: Public Library of Science</publisher><subject>17β-Estradiol ; Adult ; Age ; Androgen receptors ; Androgens ; Biology ; Body Composition ; Body measurements ; Chromatography ; Computed tomography ; Cross-Sectional Studies ; Dual energy X-ray absorptiometry ; Endocrinology ; Exercise ; Genes ; Genetic aspects ; Genetic Association Studies ; Genetic diversity ; Grasping ; Grip strength ; Hand Strength ; Humans ; Male ; Mass spectrometry ; Medicine ; Men ; Middle Aged ; Muscle, Skeletal - anatomy & histology ; Muscles ; Musculoskeletal system ; Physical activity ; Physiological aspects ; Polyglutamine ; Polymorphism ; Polymorphism, Single Nucleotide ; Population studies ; Receptors, Androgen - genetics ; Rodents ; Scientific imaging ; Sex ; Sex hormones ; Siblings ; Single nucleotide polymorphisms ; Single-nucleotide polymorphism ; Steroids ; Testosterone ; Testosterone - blood ; Trinucleotide repeats</subject><ispartof>PloS one, 2014-01, Vol.9 (1), p.e86235-e86235</ispartof><rights>COPYRIGHT 2014 Public Library of Science</rights><rights>2014 De Naeyer et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License: http://creativecommons.org/licenses/by/4.0/ (the “License”), which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.</rights><rights>2014 De Naeyer et al 2014 De Naeyer et al</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c692t-da5b5d954dbdbc73a3c05035fc22fa06a43005753257c413d0b575c8fa1deb273</citedby><cites>FETCH-LOGICAL-c692t-da5b5d954dbdbc73a3c05035fc22fa06a43005753257c413d0b575c8fa1deb273</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC3900506/pdf/$$EPDF$$P50$$Gpubmedcentral$$Hfree_for_read</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC3900506/$$EHTML$$P50$$Gpubmedcentral$$Hfree_for_read</linktohtml><link.rule.ids>230,314,723,776,780,860,881,2095,2914,23846,27903,27904,53769,53771,79346,79347</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/24465978$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><contributor>Devaney, Joseph</contributor><creatorcontrib>De Naeyer, Hélène</creatorcontrib><creatorcontrib>Bogaert, Veerle</creatorcontrib><creatorcontrib>De Spaey, Annelies</creatorcontrib><creatorcontrib>Roef, Greet</creatorcontrib><creatorcontrib>Vandewalle, Sara</creatorcontrib><creatorcontrib>Derave, Wim</creatorcontrib><creatorcontrib>Taes, Youri</creatorcontrib><creatorcontrib>Kaufman, Jean-Marc</creatorcontrib><title>Genetic variations in the androgen receptor are associated with steroid concentrations and anthropometrics but not with muscle mass in healthy young men</title><title>PloS one</title><addtitle>PLoS One</addtitle><description>The relationship between serum testosterone (T) levels, muscle mass and muscle force in eugonadal men is incompletely understood. As polymorphisms in the androgen receptor (AR) gene cause differences in androgen sensitivity, no straightforward correlation can be observed between the interindividual variation in T levels and different phenotypes. Therefore, we aim to investigate the relationship between genetic variations in the AR, circulating androgens and muscle mass and function in young healthy male siblings.
677 men (25-45 years) were recruited in a cross-sectional, population-based sibling pair study.
Relations between genetic variation in the AR gene (CAGn, GGNn, SNPs), sex steroid levels (by LC-MS/MS), body composition (by DXA), muscle cross-sectional area (CSA) (by pQCT), muscle force (isokinetic peak torque, grip strength) and anthropometrics were studied using linear mixed-effect modelling.
Muscle mass and force were highly heritable and related to age, physical activity, body composition and anthropometrics. Total T (TT) and free T (FT) levels were positively related to muscle CSA, whereas estradiol (E2) and free E2 (FE2) concentrations were negatively associated with muscle force. Subjects with longer CAG repeat length had higher circulating TT, FT, and higher E2 and FE2 concentrations. Weak associations with TT and FT were found for the rs5965433 and rs5919392 SNP in the AR, whereas no association between GGN repeat polymorphism and T concentrations were found. Arm span and 2D:4D finger length ratio were inversely associated, whereas muscle mass and force were not associated with the number of CAG repeats.
Age, physical activity, body composition, sex steroid levels and anthropometrics are determinants of muscle mass and function in young men. Although the number of CAG repeats of the AR are related to sex steroid levels and anthropometrics, we have no evidence that these variations in the AR gene also affect muscle mass or function.</description><subject>17β-Estradiol</subject><subject>Adult</subject><subject>Age</subject><subject>Androgen receptors</subject><subject>Androgens</subject><subject>Biology</subject><subject>Body Composition</subject><subject>Body measurements</subject><subject>Chromatography</subject><subject>Computed tomography</subject><subject>Cross-Sectional Studies</subject><subject>Dual energy X-ray absorptiometry</subject><subject>Endocrinology</subject><subject>Exercise</subject><subject>Genes</subject><subject>Genetic aspects</subject><subject>Genetic Association Studies</subject><subject>Genetic diversity</subject><subject>Grasping</subject><subject>Grip strength</subject><subject>Hand Strength</subject><subject>Humans</subject><subject>Male</subject><subject>Mass spectrometry</subject><subject>Medicine</subject><subject>Men</subject><subject>Middle Aged</subject><subject>Muscle, Skeletal - anatomy & histology</subject><subject>Muscles</subject><subject>Musculoskeletal system</subject><subject>Physical activity</subject><subject>Physiological aspects</subject><subject>Polyglutamine</subject><subject>Polymorphism</subject><subject>Polymorphism, Single Nucleotide</subject><subject>Population studies</subject><subject>Receptors, Androgen - genetics</subject><subject>Rodents</subject><subject>Scientific imaging</subject><subject>Sex</subject><subject>Sex hormones</subject><subject>Siblings</subject><subject>Single nucleotide polymorphisms</subject><subject>Single-nucleotide polymorphism</subject><subject>Steroids</subject><subject>Testosterone</subject><subject>Testosterone - blood</subject><subject>Trinucleotide 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variations in the androgen receptor are associated with steroid concentrations and anthropometrics but not with muscle mass in healthy young men</title><author>De Naeyer, Hélène ; Bogaert, Veerle ; De Spaey, Annelies ; Roef, Greet ; Vandewalle, Sara ; Derave, Wim ; Taes, Youri ; Kaufman, Jean-Marc</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c692t-da5b5d954dbdbc73a3c05035fc22fa06a43005753257c413d0b575c8fa1deb273</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2014</creationdate><topic>17β-Estradiol</topic><topic>Adult</topic><topic>Age</topic><topic>Androgen receptors</topic><topic>Androgens</topic><topic>Biology</topic><topic>Body Composition</topic><topic>Body measurements</topic><topic>Chromatography</topic><topic>Computed tomography</topic><topic>Cross-Sectional Studies</topic><topic>Dual energy X-ray absorptiometry</topic><topic>Endocrinology</topic><topic>Exercise</topic><topic>Genes</topic><topic>Genetic aspects</topic><topic>Genetic Association Studies</topic><topic>Genetic diversity</topic><topic>Grasping</topic><topic>Grip strength</topic><topic>Hand Strength</topic><topic>Humans</topic><topic>Male</topic><topic>Mass spectrometry</topic><topic>Medicine</topic><topic>Men</topic><topic>Middle Aged</topic><topic>Muscle, Skeletal - anatomy & histology</topic><topic>Muscles</topic><topic>Musculoskeletal system</topic><topic>Physical activity</topic><topic>Physiological aspects</topic><topic>Polyglutamine</topic><topic>Polymorphism</topic><topic>Polymorphism, Single Nucleotide</topic><topic>Population studies</topic><topic>Receptors, Androgen - genetics</topic><topic>Rodents</topic><topic>Scientific imaging</topic><topic>Sex</topic><topic>Sex hormones</topic><topic>Siblings</topic><topic>Single nucleotide polymorphisms</topic><topic>Single-nucleotide 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Science Collection</collection><collection>Genetics Abstracts</collection><collection>MEDLINE - Academic</collection><collection>PubMed Central (Full Participant titles)</collection><collection>DOAJ Directory of Open Access Journals</collection><jtitle>PloS one</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>De Naeyer, Hélène</au><au>Bogaert, Veerle</au><au>De Spaey, Annelies</au><au>Roef, Greet</au><au>Vandewalle, Sara</au><au>Derave, Wim</au><au>Taes, Youri</au><au>Kaufman, Jean-Marc</au><au>Devaney, Joseph</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Genetic variations in the androgen receptor are associated with steroid concentrations and anthropometrics but not with muscle mass in healthy young men</atitle><jtitle>PloS one</jtitle><addtitle>PLoS One</addtitle><date>2014-01-23</date><risdate>2014</risdate><volume>9</volume><issue>1</issue><spage>e86235</spage><epage>e86235</epage><pages>e86235-e86235</pages><issn>1932-6203</issn><eissn>1932-6203</eissn><abstract>The relationship between serum testosterone (T) levels, muscle mass and muscle force in eugonadal men is incompletely understood. As polymorphisms in the androgen receptor (AR) gene cause differences in androgen sensitivity, no straightforward correlation can be observed between the interindividual variation in T levels and different phenotypes. Therefore, we aim to investigate the relationship between genetic variations in the AR, circulating androgens and muscle mass and function in young healthy male siblings.
677 men (25-45 years) were recruited in a cross-sectional, population-based sibling pair study.
Relations between genetic variation in the AR gene (CAGn, GGNn, SNPs), sex steroid levels (by LC-MS/MS), body composition (by DXA), muscle cross-sectional area (CSA) (by pQCT), muscle force (isokinetic peak torque, grip strength) and anthropometrics were studied using linear mixed-effect modelling.
Muscle mass and force were highly heritable and related to age, physical activity, body composition and anthropometrics. Total T (TT) and free T (FT) levels were positively related to muscle CSA, whereas estradiol (E2) and free E2 (FE2) concentrations were negatively associated with muscle force. Subjects with longer CAG repeat length had higher circulating TT, FT, and higher E2 and FE2 concentrations. Weak associations with TT and FT were found for the rs5965433 and rs5919392 SNP in the AR, whereas no association between GGN repeat polymorphism and T concentrations were found. Arm span and 2D:4D finger length ratio were inversely associated, whereas muscle mass and force were not associated with the number of CAG repeats.
Age, physical activity, body composition, sex steroid levels and anthropometrics are determinants of muscle mass and function in young men. Although the number of CAG repeats of the AR are related to sex steroid levels and anthropometrics, we have no evidence that these variations in the AR gene also affect muscle mass or function.</abstract><cop>United States</cop><pub>Public Library of Science</pub><pmid>24465978</pmid><doi>10.1371/journal.pone.0086235</doi><tpages>e86235</tpages><oa>free_for_read</oa></addata></record> |
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recordid | cdi_plos_journals_1491323613 |
source | MEDLINE; DOAJ Directory of Open Access Journals; Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals; Public Library of Science (PLoS); PubMed Central; Free Full-Text Journals in Chemistry |
subjects | 17β-Estradiol Adult Age Androgen receptors Androgens Biology Body Composition Body measurements Chromatography Computed tomography Cross-Sectional Studies Dual energy X-ray absorptiometry Endocrinology Exercise Genes Genetic aspects Genetic Association Studies Genetic diversity Grasping Grip strength Hand Strength Humans Male Mass spectrometry Medicine Men Middle Aged Muscle, Skeletal - anatomy & histology Muscles Musculoskeletal system Physical activity Physiological aspects Polyglutamine Polymorphism Polymorphism, Single Nucleotide Population studies Receptors, Androgen - genetics Rodents Scientific imaging Sex Sex hormones Siblings Single nucleotide polymorphisms Single-nucleotide polymorphism Steroids Testosterone Testosterone - blood Trinucleotide repeats |
title | Genetic variations in the androgen receptor are associated with steroid concentrations and anthropometrics but not with muscle mass in healthy young men |
url | https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2025-01-25T07%3A29%3A39IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-gale_plos_&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=Genetic%20variations%20in%20the%20androgen%20receptor%20are%20associated%20with%20steroid%20concentrations%20and%20anthropometrics%20but%20not%20with%20muscle%20mass%20in%20healthy%20young%20men&rft.jtitle=PloS%20one&rft.au=De%20Naeyer,%20H%C3%A9l%C3%A8ne&rft.date=2014-01-23&rft.volume=9&rft.issue=1&rft.spage=e86235&rft.epage=e86235&rft.pages=e86235-e86235&rft.issn=1932-6203&rft.eissn=1932-6203&rft_id=info:doi/10.1371/journal.pone.0086235&rft_dat=%3Cgale_plos_%3EA478850989%3C/gale_plos_%3E%3Curl%3E%3C/url%3E&disable_directlink=true&sfx.directlink=off&sfx.report_link=0&rft_id=info:oai/&rft_pqid=1491323613&rft_id=info:pmid/24465978&rft_galeid=A478850989&rft_doaj_id=oai_doaj_org_article_728fd34747704cce9d3045ff1f3b1e3b&rfr_iscdi=true |