Exploring the relationship between α-actinin-3 deficiency and obesity in mice and humans
Obesity is a worldwide health crisis, and the identification of genetic modifiers of weight gain is crucial in understanding this complex disorder. A common null polymorphism in the fast fiber-specific gene ACTN3 (R577X) is known to influence skeletal muscle function and metabolism. α-Actinin-3 defi...
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| Veröffentlicht in: | International Journal of Obesity 2017-07, Vol.41 (7), p.1154-1157 |
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| container_title | International Journal of Obesity |
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| creator | Houweling, P J Berman, Y D Turner, N Quinlan, K G R Seto, J T Yang, N Lek, M Macarthur, D G Cooney, G North, K N |
| description | Obesity is a worldwide health crisis, and the identification of genetic modifiers of weight gain is crucial in understanding this complex disorder. A common null polymorphism in the fast fiber-specific gene
ACTN3
(R577X) is known to influence skeletal muscle function and metabolism. α-Actinin-3 deficiency occurs in an estimated 1.5 billion people worldwide, and results in reduced muscle strength and a shift towards a more efficient oxidative metabolism. The X-allele has undergone strong positive selection during recent human evolution, and in this study, we sought to determine whether
ACTN3
genotype influences weight gain and obesity in mice and humans. An
Actn3
KO mouse has been generated on two genetic backgrounds (129X1/SvJ and C57BL/6J) and fed a high-fat diet (HFD, 45% calories from fat). Anthropomorphic features (including body weight) were examined and show that
Actn3
KO 129X1/SvJ mice gained less weight compared to WT. In addition, six independent human cohorts were genotyped for
ACTN3
R577X (Rs1815739) and body mass index (BMI), waist-to-hip ratio-adjusted BMI (WHRadjBMI) and obesity-related traits were assessed. In humans,
ACTN3
genotype alone does not contribute to alterations in BMI or obesity. |
| doi_str_mv | 10.1038/ijo.2017.72 |
| format | Article |
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ACTN3
(R577X) is known to influence skeletal muscle function and metabolism. α-Actinin-3 deficiency occurs in an estimated 1.5 billion people worldwide, and results in reduced muscle strength and a shift towards a more efficient oxidative metabolism. The X-allele has undergone strong positive selection during recent human evolution, and in this study, we sought to determine whether
ACTN3
genotype influences weight gain and obesity in mice and humans. An
Actn3
KO mouse has been generated on two genetic backgrounds (129X1/SvJ and C57BL/6J) and fed a high-fat diet (HFD, 45% calories from fat). Anthropomorphic features (including body weight) were examined and show that
Actn3
KO 129X1/SvJ mice gained less weight compared to WT. In addition, six independent human cohorts were genotyped for
ACTN3
R577X (Rs1815739) and body mass index (BMI), waist-to-hip ratio-adjusted BMI (WHRadjBMI) and obesity-related traits were assessed. In humans,
ACTN3
genotype alone does not contribute to alterations in BMI or obesity.</description><identifier>ISSN: 0307-0565</identifier><identifier>EISSN: 1476-5497</identifier><identifier>DOI: 10.1038/ijo.2017.72</identifier><identifier>PMID: 28293018</identifier><language>eng</language><publisher>London: Nature Publishing Group UK</publisher><subject>45/43 ; 631/208 ; 631/208/135 ; 631/443/319/1642/393 ; 631/45/612/1228 ; 631/80 ; 64 ; 64/60 ; 692/420/2489/144 ; Actinin - deficiency ; Actinin - genetics ; Actinin - metabolism ; Animals ; Diet, High-Fat ; Epidemiology ; Female ; Gene Expression ; Genotype ; Health Promotion and Disease Prevention ; Humans ; Internal Medicine ; Male ; Medicine ; Medicine & Public Health ; Metabolic Diseases ; Mice ; Mice, Inbred C57BL ; Muscle, Skeletal - metabolism ; Obesity - genetics ; Obesity - physiopathology ; Public Health ; RNA, Messenger - genetics ; Short Communication ; Weight Gain - genetics ; Weight Gain - physiology</subject><ispartof>International Journal of Obesity, 2017-07, Vol.41 (7), p.1154-1157</ispartof><rights>The Author(s) 2017</rights><rights>Copyright © 2017 The Author(s) 2017 The Author(s)</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c418t-28029d6d64cc4b033240ae2668af04646ba10e3b976a8110f8da9de481039b003</citedby><cites>FETCH-LOGICAL-c418t-28029d6d64cc4b033240ae2668af04646ba10e3b976a8110f8da9de481039b003</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://link.springer.com/content/pdf/10.1038/ijo.2017.72$$EPDF$$P50$$Gspringer$$Hfree_for_read</linktopdf><linktohtml>$$Uhttps://link.springer.com/10.1038/ijo.2017.72$$EHTML$$P50$$Gspringer$$Hfree_for_read</linktohtml><link.rule.ids>230,314,776,780,881,27903,27904,41467,42536,51298</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/28293018$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Houweling, P J</creatorcontrib><creatorcontrib>Berman, Y D</creatorcontrib><creatorcontrib>Turner, N</creatorcontrib><creatorcontrib>Quinlan, K G R</creatorcontrib><creatorcontrib>Seto, J T</creatorcontrib><creatorcontrib>Yang, N</creatorcontrib><creatorcontrib>Lek, M</creatorcontrib><creatorcontrib>Macarthur, D G</creatorcontrib><creatorcontrib>Cooney, G</creatorcontrib><creatorcontrib>North, K N</creatorcontrib><title>Exploring the relationship between α-actinin-3 deficiency and obesity in mice and humans</title><title>International Journal of Obesity</title><addtitle>Int J Obes</addtitle><addtitle>Int J Obes (Lond)</addtitle><description>Obesity is a worldwide health crisis, and the identification of genetic modifiers of weight gain is crucial in understanding this complex disorder. A common null polymorphism in the fast fiber-specific gene
ACTN3
(R577X) is known to influence skeletal muscle function and metabolism. α-Actinin-3 deficiency occurs in an estimated 1.5 billion people worldwide, and results in reduced muscle strength and a shift towards a more efficient oxidative metabolism. The X-allele has undergone strong positive selection during recent human evolution, and in this study, we sought to determine whether
ACTN3
genotype influences weight gain and obesity in mice and humans. An
Actn3
KO mouse has been generated on two genetic backgrounds (129X1/SvJ and C57BL/6J) and fed a high-fat diet (HFD, 45% calories from fat). Anthropomorphic features (including body weight) were examined and show that
Actn3
KO 129X1/SvJ mice gained less weight compared to WT. In addition, six independent human cohorts were genotyped for
ACTN3
R577X (Rs1815739) and body mass index (BMI), waist-to-hip ratio-adjusted BMI (WHRadjBMI) and obesity-related traits were assessed. In humans,
ACTN3
genotype alone does not contribute to alterations in BMI or obesity.</description><subject>45/43</subject><subject>631/208</subject><subject>631/208/135</subject><subject>631/443/319/1642/393</subject><subject>631/45/612/1228</subject><subject>631/80</subject><subject>64</subject><subject>64/60</subject><subject>692/420/2489/144</subject><subject>Actinin - deficiency</subject><subject>Actinin - genetics</subject><subject>Actinin - metabolism</subject><subject>Animals</subject><subject>Diet, High-Fat</subject><subject>Epidemiology</subject><subject>Female</subject><subject>Gene Expression</subject><subject>Genotype</subject><subject>Health Promotion and Disease Prevention</subject><subject>Humans</subject><subject>Internal Medicine</subject><subject>Male</subject><subject>Medicine</subject><subject>Medicine & Public Health</subject><subject>Metabolic Diseases</subject><subject>Mice</subject><subject>Mice, Inbred C57BL</subject><subject>Muscle, Skeletal - metabolism</subject><subject>Obesity - genetics</subject><subject>Obesity - physiopathology</subject><subject>Public Health</subject><subject>RNA, Messenger - genetics</subject><subject>Short Communication</subject><subject>Weight Gain - genetics</subject><subject>Weight Gain - physiology</subject><issn>0307-0565</issn><issn>1476-5497</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2017</creationdate><recordtype>article</recordtype><sourceid>C6C</sourceid><sourceid>EIF</sourceid><recordid>eNptkU2LFDEQhoMo7rh68i45Ctpj5aOT9EWQZf2ABS968BTS6eqdDN1Jm3Svzs_yj_ib7HHWRcFTQdXDW1XvS8hTBlsGwrwK-7TlwPRW83tkw6RWVS0bfZ9sQICuoFb1GXlUyh4A6hr4Q3LGDW8EMLMhXy6_T0PKIV7TeYc04-DmkGLZhYm2OH9DjPTnj8r5OcQQK0E77IMPGP2ButjR1GIJ84GGSMfg8Xdvt4wulsfkQe-Ggk9u6zn5_Pby08X76urjuw8Xb64qL5mZK26AN53qlPRetiAEl-CQK2VcD1JJ1ToGKNpGK2cYg950rulQmvX3pgUQ5-T1SXda2hE7j3HObrBTDqPLB5tcsP9OYtjZ63RjVy-klHoVeH4rkNPXBctsx1A8DoOLmJZimdHa1BJEvaIvTqjPqZSM_d0aBvYYhl3DsMcwrOYr_ezvy-7YP-6vwMsTUKZjApjtPi05rm79V-8XFDaVbA</recordid><startdate>20170701</startdate><enddate>20170701</enddate><creator>Houweling, P J</creator><creator>Berman, Y D</creator><creator>Turner, N</creator><creator>Quinlan, K G R</creator><creator>Seto, J T</creator><creator>Yang, N</creator><creator>Lek, M</creator><creator>Macarthur, D G</creator><creator>Cooney, G</creator><creator>North, K N</creator><general>Nature Publishing Group UK</general><general>Nature Publishing Group</general><scope>C6C</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7X8</scope><scope>5PM</scope></search><sort><creationdate>20170701</creationdate><title>Exploring the relationship between α-actinin-3 deficiency and obesity in mice and humans</title><author>Houweling, P J ; 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A common null polymorphism in the fast fiber-specific gene
ACTN3
(R577X) is known to influence skeletal muscle function and metabolism. α-Actinin-3 deficiency occurs in an estimated 1.5 billion people worldwide, and results in reduced muscle strength and a shift towards a more efficient oxidative metabolism. The X-allele has undergone strong positive selection during recent human evolution, and in this study, we sought to determine whether
ACTN3
genotype influences weight gain and obesity in mice and humans. An
Actn3
KO mouse has been generated on two genetic backgrounds (129X1/SvJ and C57BL/6J) and fed a high-fat diet (HFD, 45% calories from fat). Anthropomorphic features (including body weight) were examined and show that
Actn3
KO 129X1/SvJ mice gained less weight compared to WT. In addition, six independent human cohorts were genotyped for
ACTN3
R577X (Rs1815739) and body mass index (BMI), waist-to-hip ratio-adjusted BMI (WHRadjBMI) and obesity-related traits were assessed. In humans,
ACTN3
genotype alone does not contribute to alterations in BMI or obesity.</abstract><cop>London</cop><pub>Nature Publishing Group UK</pub><pmid>28293018</pmid><doi>10.1038/ijo.2017.72</doi><tpages>4</tpages><oa>free_for_read</oa></addata></record> |
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| ispartof | International Journal of Obesity, 2017-07, Vol.41 (7), p.1154-1157 |
| issn | 0307-0565 1476-5497 |
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| source | MEDLINE; Nature; Springer Nature - Complete Springer Journals |
| subjects | 45/43 631/208 631/208/135 631/443/319/1642/393 631/45/612/1228 631/80 64 64/60 692/420/2489/144 Actinin - deficiency Actinin - genetics Actinin - metabolism Animals Diet, High-Fat Epidemiology Female Gene Expression Genotype Health Promotion and Disease Prevention Humans Internal Medicine Male Medicine Medicine & Public Health Metabolic Diseases Mice Mice, Inbred C57BL Muscle, Skeletal - metabolism Obesity - genetics Obesity - physiopathology Public Health RNA, Messenger - genetics Short Communication Weight Gain - genetics Weight Gain - physiology |
| title | Exploring the relationship between α-actinin-3 deficiency and obesity in mice and humans |
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