Genetic variation in SH3-domain GRB2-like (endophilin)-interacting protein 1 has a major impact on fat mass
Objective: The SH3-domain GRB2-like (endophilin)-interacting protein 1 ( SGIP1 ) gene has been shown to be differentially expressed in the hypothalamus of lean versus obese Israeli sand rats ( Psammomys obesus ), and is suspected of having a role in regulating food intake. The purpose of this study...
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container_title | International Journal of Obesity |
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creator | Cummings, N Shields, K A Curran, J E Bozaoglu, K Trevaskis, J Gluschenko, K Cai, G Comuzzie, A G Dyer, T D Walder, K R Zimmet, P Collier, G R Blangero, J Jowett, J B M |
description | Objective:
The SH3-domain GRB2-like (endophilin)-interacting protein 1 (
SGIP1
) gene has been shown to be differentially expressed in the hypothalamus of lean versus obese Israeli sand rats (
Psammomys obesus
), and is suspected of having a role in regulating food intake. The purpose of this study was to assess the role of genetic variation in
SGIP1
in human disease.
Subjects:
We performed single-nucleotide polymorphism (SNP) genotyping in a large family pedigree cohort from the island of Mauritius. The Mauritius Family Study (MFS) consists of 400 individuals from 24 Indo-Mauritian families recruited from the genetically homogeneous population of Mauritius. We measured markers of the metabolic syndrome, including diabetes and obesity-related phenotypes such as fasting plasma glucose, waist:hip ratio, body mass index and fat mass.
Results:
Statistical genetic analysis revealed associations between
SGIP1
polymorphisms and fat mass (in kilograms) as measured by bioimpedance. SNP genotyping identified associations between several genetic variants and fat mass, with the strongest association for rs2146905 (
P
=4.7 × 10
−5
). A strong allelic effect was noted for several SNPs where fat mass was reduced by up to 9.4% for individuals homozygous for the minor allele.
Conclusions:
Our results show association between genetic variants in
SGIP1
and fat mass. We provide evidence that variation in
SGIP1
is a potentially important determinant of obesity-related traits in humans. |
doi_str_mv | 10.1038/ijo.2011.67 |
format | Article |
fullrecord | <record><control><sourceid>gale_proqu</sourceid><recordid>TN_cdi_proquest_miscellaneous_921569389</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><galeid>A281374785</galeid><sourcerecordid>A281374785</sourcerecordid><originalsourceid>FETCH-LOGICAL-c546t-8f2725ef8744e1d135fc10ff20997670254c7df93cec6edbb5338bca8a25c1d23</originalsourceid><addsrcrecordid>eNptkstvEzEQhy0EoiFw4o4sEC_BBj_W691jqSBFqoTE42w53nHidNcOtrcS_30dJVCKKh9szXwznscPoaeULCjh7Qe3DQtGKF008h6a0Vo2lag7eR_NCCeyIqIRJ-hRSltCiBCEPUQnjNZEUkln6HIJHrIz-EpHp7MLHjuPv5_zqg-jLs_lt4-sGtwl4Dfg-7DbuMH5t5XzGaI22fk13sWQoaAUb3TCGo96GyJ24674cUlodS62lB6jB1YPCZ4c7zn6-fnTj7Pz6uLr8svZ6UVlRN3kqrVMMgG2lXUNtKdcWEOJtYx0nWwkYaI2srcdN2Aa6FcrwXm7MrrVTBjaMz5Hrw95S2G_JkhZjS4ZGAbtIUxJdYyKpuNtV8jn_5HbMEVfittDsu5ImfAcvThAaz2Act6GXDrfp1SnrKVc1rIVhVrcQZXTw-hM8GBdsd8KePVPwAb0kDcpDNN-B-k2-O4AmhhSimDVLrpRx9-KErVXgCoKUHsFqEYW-tmxpWk1Qv-X_bPyArw8AjoZPdiovXHphhOia4puCvf-wKXi8muIN7O5699r22HDcg</addsrcrecordid><sourcetype>Aggregation Database</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>921749010</pqid></control><display><type>article</type><title>Genetic variation in SH3-domain GRB2-like (endophilin)-interacting protein 1 has a major impact on fat mass</title><source>MEDLINE</source><source>Nature</source><source>EZB-FREE-00999 freely available EZB journals</source><source>SpringerLink Journals - AutoHoldings</source><creator>Cummings, N ; Shields, K A ; Curran, J E ; Bozaoglu, K ; Trevaskis, J ; Gluschenko, K ; Cai, G ; Comuzzie, A G ; Dyer, T D ; Walder, K R ; Zimmet, P ; Collier, G R ; Blangero, J ; Jowett, J B M</creator><creatorcontrib>Cummings, N ; Shields, K A ; Curran, J E ; Bozaoglu, K ; Trevaskis, J ; Gluschenko, K ; Cai, G ; Comuzzie, A G ; Dyer, T D ; Walder, K R ; Zimmet, P ; Collier, G R ; Blangero, J ; Jowett, J B M</creatorcontrib><description>Objective:
The SH3-domain GRB2-like (endophilin)-interacting protein 1 (
SGIP1
) gene has been shown to be differentially expressed in the hypothalamus of lean versus obese Israeli sand rats (
Psammomys obesus
), and is suspected of having a role in regulating food intake. The purpose of this study was to assess the role of genetic variation in
SGIP1
in human disease.
Subjects:
We performed single-nucleotide polymorphism (SNP) genotyping in a large family pedigree cohort from the island of Mauritius. The Mauritius Family Study (MFS) consists of 400 individuals from 24 Indo-Mauritian families recruited from the genetically homogeneous population of Mauritius. We measured markers of the metabolic syndrome, including diabetes and obesity-related phenotypes such as fasting plasma glucose, waist:hip ratio, body mass index and fat mass.
Results:
Statistical genetic analysis revealed associations between
SGIP1
polymorphisms and fat mass (in kilograms) as measured by bioimpedance. SNP genotyping identified associations between several genetic variants and fat mass, with the strongest association for rs2146905 (
P
=4.7 × 10
−5
). A strong allelic effect was noted for several SNPs where fat mass was reduced by up to 9.4% for individuals homozygous for the minor allele.
Conclusions:
Our results show association between genetic variants in
SGIP1
and fat mass. We provide evidence that variation in
SGIP1
is a potentially important determinant of obesity-related traits in humans.</description><identifier>ISSN: 0307-0565</identifier><identifier>EISSN: 1476-5497</identifier><identifier>DOI: 10.1038/ijo.2011.67</identifier><identifier>PMID: 21407171</identifier><identifier>CODEN: IJOBDP</identifier><language>eng</language><publisher>London: Nature Publishing Group UK</publisher><subject>Adult ; Aged ; Aged, 80 and over ; Alpha-Ketoglutarate-Dependent Dioxygenase FTO ; Animals ; Biological and medical sciences ; Biomedical research ; Body Composition - genetics ; Body mass index ; Carrier Proteins - genetics ; Cohort Studies ; Diabetes ; Diabetes Mellitus, Type 2 - genetics ; Eating - genetics ; Epidemiology ; Family studies ; Female ; Food ; Genes ; Genetic aspects ; Genetic diversity ; Genetic Predisposition to Disease ; Genetic variance ; Genomes ; Genomics ; Health Promotion and Disease Prevention ; Homeostasis ; Humans ; Hypothalamus ; Internal Medicine ; International organizations ; Male ; Mauritius - epidemiology ; Medical sciences ; Medicine ; Medicine & Public Health ; Metabolic Diseases ; Metabolic disorders ; Metabolic syndrome ; Metabolic Syndrome - epidemiology ; Metabolic Syndrome - genetics ; Middle Aged ; Obesity ; Obesity - epidemiology ; Obesity - genetics ; original-article ; Pedigree ; Phenotype ; Physiological aspects ; Polymorphism ; Polymorphism, Single Nucleotide ; Prevalence ; Proteins ; Proteins - genetics ; Public Health ; Rats ; Risk factors ; Sand ; Single nucleotide polymorphisms ; src Homology Domains - genetics ; Young Adult</subject><ispartof>International Journal of Obesity, 2012-02, Vol.36 (2), p.201-206</ispartof><rights>Macmillan Publishers Limited 2012</rights><rights>2015 INIST-CNRS</rights><rights>COPYRIGHT 2012 Nature Publishing Group</rights><rights>Copyright Nature Publishing Group Feb 2012</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c546t-8f2725ef8744e1d135fc10ff20997670254c7df93cec6edbb5338bca8a25c1d23</citedby><cites>FETCH-LOGICAL-c546t-8f2725ef8744e1d135fc10ff20997670254c7df93cec6edbb5338bca8a25c1d23</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.2011.67$$EPDF$$P50$$Gspringer$$H</linktopdf><linktohtml>$$Uhttps://link.springer.com/10.1038/ijo.2011.67$$EHTML$$P50$$Gspringer$$H</linktohtml><link.rule.ids>314,776,780,27901,27902,41464,42533,51294</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=25596307$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/21407171$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Cummings, N</creatorcontrib><creatorcontrib>Shields, K A</creatorcontrib><creatorcontrib>Curran, J E</creatorcontrib><creatorcontrib>Bozaoglu, K</creatorcontrib><creatorcontrib>Trevaskis, J</creatorcontrib><creatorcontrib>Gluschenko, K</creatorcontrib><creatorcontrib>Cai, G</creatorcontrib><creatorcontrib>Comuzzie, A G</creatorcontrib><creatorcontrib>Dyer, T D</creatorcontrib><creatorcontrib>Walder, K R</creatorcontrib><creatorcontrib>Zimmet, P</creatorcontrib><creatorcontrib>Collier, G R</creatorcontrib><creatorcontrib>Blangero, J</creatorcontrib><creatorcontrib>Jowett, J B M</creatorcontrib><title>Genetic variation in SH3-domain GRB2-like (endophilin)-interacting protein 1 has a major impact on fat mass</title><title>International Journal of Obesity</title><addtitle>Int J Obes</addtitle><addtitle>Int J Obes (Lond)</addtitle><description>Objective:
The SH3-domain GRB2-like (endophilin)-interacting protein 1 (
SGIP1
) gene has been shown to be differentially expressed in the hypothalamus of lean versus obese Israeli sand rats (
Psammomys obesus
), and is suspected of having a role in regulating food intake. The purpose of this study was to assess the role of genetic variation in
SGIP1
in human disease.
Subjects:
We performed single-nucleotide polymorphism (SNP) genotyping in a large family pedigree cohort from the island of Mauritius. The Mauritius Family Study (MFS) consists of 400 individuals from 24 Indo-Mauritian families recruited from the genetically homogeneous population of Mauritius. We measured markers of the metabolic syndrome, including diabetes and obesity-related phenotypes such as fasting plasma glucose, waist:hip ratio, body mass index and fat mass.
Results:
Statistical genetic analysis revealed associations between
SGIP1
polymorphisms and fat mass (in kilograms) as measured by bioimpedance. SNP genotyping identified associations between several genetic variants and fat mass, with the strongest association for rs2146905 (
P
=4.7 × 10
−5
). A strong allelic effect was noted for several SNPs where fat mass was reduced by up to 9.4% for individuals homozygous for the minor allele.
Conclusions:
Our results show association between genetic variants in
SGIP1
and fat mass. We provide evidence that variation in
SGIP1
is a potentially important determinant of obesity-related traits in humans.</description><subject>Adult</subject><subject>Aged</subject><subject>Aged, 80 and over</subject><subject>Alpha-Ketoglutarate-Dependent Dioxygenase FTO</subject><subject>Animals</subject><subject>Biological and medical sciences</subject><subject>Biomedical research</subject><subject>Body Composition - genetics</subject><subject>Body mass index</subject><subject>Carrier Proteins - genetics</subject><subject>Cohort Studies</subject><subject>Diabetes</subject><subject>Diabetes Mellitus, Type 2 - genetics</subject><subject>Eating - genetics</subject><subject>Epidemiology</subject><subject>Family studies</subject><subject>Female</subject><subject>Food</subject><subject>Genes</subject><subject>Genetic aspects</subject><subject>Genetic diversity</subject><subject>Genetic Predisposition to Disease</subject><subject>Genetic variance</subject><subject>Genomes</subject><subject>Genomics</subject><subject>Health Promotion and Disease Prevention</subject><subject>Homeostasis</subject><subject>Humans</subject><subject>Hypothalamus</subject><subject>Internal Medicine</subject><subject>International organizations</subject><subject>Male</subject><subject>Mauritius - epidemiology</subject><subject>Medical sciences</subject><subject>Medicine</subject><subject>Medicine & Public Health</subject><subject>Metabolic Diseases</subject><subject>Metabolic disorders</subject><subject>Metabolic syndrome</subject><subject>Metabolic Syndrome - epidemiology</subject><subject>Metabolic Syndrome - genetics</subject><subject>Middle Aged</subject><subject>Obesity</subject><subject>Obesity - epidemiology</subject><subject>Obesity - genetics</subject><subject>original-article</subject><subject>Pedigree</subject><subject>Phenotype</subject><subject>Physiological aspects</subject><subject>Polymorphism</subject><subject>Polymorphism, Single Nucleotide</subject><subject>Prevalence</subject><subject>Proteins</subject><subject>Proteins - genetics</subject><subject>Public Health</subject><subject>Rats</subject><subject>Risk factors</subject><subject>Sand</subject><subject>Single nucleotide polymorphisms</subject><subject>src Homology Domains - genetics</subject><subject>Young Adult</subject><issn>0307-0565</issn><issn>1476-5497</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2012</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>BENPR</sourceid><recordid>eNptkstvEzEQhy0EoiFw4o4sEC_BBj_W691jqSBFqoTE42w53nHidNcOtrcS_30dJVCKKh9szXwznscPoaeULCjh7Qe3DQtGKF008h6a0Vo2lag7eR_NCCeyIqIRJ-hRSltCiBCEPUQnjNZEUkln6HIJHrIz-EpHp7MLHjuPv5_zqg-jLs_lt4-sGtwl4Dfg-7DbuMH5t5XzGaI22fk13sWQoaAUb3TCGo96GyJ24674cUlodS62lB6jB1YPCZ4c7zn6-fnTj7Pz6uLr8svZ6UVlRN3kqrVMMgG2lXUNtKdcWEOJtYx0nWwkYaI2srcdN2Aa6FcrwXm7MrrVTBjaMz5Hrw95S2G_JkhZjS4ZGAbtIUxJdYyKpuNtV8jn_5HbMEVfittDsu5ImfAcvThAaz2Act6GXDrfp1SnrKVc1rIVhVrcQZXTw-hM8GBdsd8KePVPwAb0kDcpDNN-B-k2-O4AmhhSimDVLrpRx9-KErVXgCoKUHsFqEYW-tmxpWk1Qv-X_bPyArw8AjoZPdiovXHphhOia4puCvf-wKXi8muIN7O5699r22HDcg</recordid><startdate>20120201</startdate><enddate>20120201</enddate><creator>Cummings, N</creator><creator>Shields, K A</creator><creator>Curran, J E</creator><creator>Bozaoglu, K</creator><creator>Trevaskis, J</creator><creator>Gluschenko, K</creator><creator>Cai, G</creator><creator>Comuzzie, A G</creator><creator>Dyer, T D</creator><creator>Walder, K R</creator><creator>Zimmet, P</creator><creator>Collier, G R</creator><creator>Blangero, J</creator><creator>Jowett, J B M</creator><general>Nature Publishing Group UK</general><general>Nature Publishing Group</general><scope>IQODW</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>3V.</scope><scope>7T2</scope><scope>7TK</scope><scope>7TS</scope><scope>7X2</scope><scope>7X7</scope><scope>7XB</scope><scope>88E</scope><scope>88G</scope><scope>8AO</scope><scope>8C1</scope><scope>8FE</scope><scope>8FH</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABUWG</scope><scope>AEUYN</scope><scope>AFKRA</scope><scope>ATCPS</scope><scope>AZQEC</scope><scope>BBNVY</scope><scope>BENPR</scope><scope>BHPHI</scope><scope>C1K</scope><scope>CCPQU</scope><scope>DWQXO</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>GNUQQ</scope><scope>HCIFZ</scope><scope>K9.</scope><scope>LK8</scope><scope>M0K</scope><scope>M0S</scope><scope>M1P</scope><scope>M2M</scope><scope>M7P</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PSYQQ</scope><scope>Q9U</scope><scope>7X8</scope></search><sort><creationdate>20120201</creationdate><title>Genetic variation in SH3-domain GRB2-like (endophilin)-interacting protein 1 has a major impact on fat mass</title><author>Cummings, N ; Shields, K A ; Curran, J E ; Bozaoglu, K ; Trevaskis, J ; Gluschenko, K ; Cai, G ; Comuzzie, A G ; Dyer, T D ; Walder, K R ; Zimmet, P ; Collier, G R ; Blangero, J ; Jowett, J B M</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c546t-8f2725ef8744e1d135fc10ff20997670254c7df93cec6edbb5338bca8a25c1d23</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2012</creationdate><topic>Adult</topic><topic>Aged</topic><topic>Aged, 80 and over</topic><topic>Alpha-Ketoglutarate-Dependent Dioxygenase FTO</topic><topic>Animals</topic><topic>Biological and medical sciences</topic><topic>Biomedical research</topic><topic>Body Composition - genetics</topic><topic>Body mass index</topic><topic>Carrier Proteins - genetics</topic><topic>Cohort Studies</topic><topic>Diabetes</topic><topic>Diabetes Mellitus, Type 2 - genetics</topic><topic>Eating - genetics</topic><topic>Epidemiology</topic><topic>Family studies</topic><topic>Female</topic><topic>Food</topic><topic>Genes</topic><topic>Genetic aspects</topic><topic>Genetic diversity</topic><topic>Genetic Predisposition to Disease</topic><topic>Genetic variance</topic><topic>Genomes</topic><topic>Genomics</topic><topic>Health Promotion and Disease Prevention</topic><topic>Homeostasis</topic><topic>Humans</topic><topic>Hypothalamus</topic><topic>Internal Medicine</topic><topic>International organizations</topic><topic>Male</topic><topic>Mauritius - epidemiology</topic><topic>Medical sciences</topic><topic>Medicine</topic><topic>Medicine & Public Health</topic><topic>Metabolic Diseases</topic><topic>Metabolic disorders</topic><topic>Metabolic syndrome</topic><topic>Metabolic Syndrome - epidemiology</topic><topic>Metabolic Syndrome - genetics</topic><topic>Middle Aged</topic><topic>Obesity</topic><topic>Obesity - epidemiology</topic><topic>Obesity - genetics</topic><topic>original-article</topic><topic>Pedigree</topic><topic>Phenotype</topic><topic>Physiological aspects</topic><topic>Polymorphism</topic><topic>Polymorphism, Single Nucleotide</topic><topic>Prevalence</topic><topic>Proteins</topic><topic>Proteins - genetics</topic><topic>Public Health</topic><topic>Rats</topic><topic>Risk factors</topic><topic>Sand</topic><topic>Single nucleotide polymorphisms</topic><topic>src Homology Domains - genetics</topic><topic>Young Adult</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Cummings, N</creatorcontrib><creatorcontrib>Shields, K A</creatorcontrib><creatorcontrib>Curran, J E</creatorcontrib><creatorcontrib>Bozaoglu, K</creatorcontrib><creatorcontrib>Trevaskis, J</creatorcontrib><creatorcontrib>Gluschenko, K</creatorcontrib><creatorcontrib>Cai, G</creatorcontrib><creatorcontrib>Comuzzie, A G</creatorcontrib><creatorcontrib>Dyer, T D</creatorcontrib><creatorcontrib>Walder, K R</creatorcontrib><creatorcontrib>Zimmet, P</creatorcontrib><creatorcontrib>Collier, G R</creatorcontrib><creatorcontrib>Blangero, J</creatorcontrib><creatorcontrib>Jowett, J B M</creatorcontrib><collection>Pascal-Francis</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>ProQuest Central (Corporate)</collection><collection>Health and Safety Science Abstracts (Full archive)</collection><collection>Neurosciences Abstracts</collection><collection>Physical Education Index</collection><collection>Agricultural Science Collection</collection><collection>Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Medical Database (Alumni Edition)</collection><collection>Psychology Database (Alumni)</collection><collection>ProQuest Pharma Collection</collection><collection>Public Health Database</collection><collection>ProQuest SciTech Collection</collection><collection>ProQuest Natural Science Collection</collection><collection>Hospital Premium Collection</collection><collection>Hospital Premium Collection (Alumni Edition)</collection><collection>ProQuest Central (Alumni) (purchase pre-March 2016)</collection><collection>ProQuest Central (Alumni Edition)</collection><collection>ProQuest One Sustainability</collection><collection>ProQuest Central UK/Ireland</collection><collection>Agricultural & Environmental Science Collection</collection><collection>ProQuest Central Essentials</collection><collection>Biological Science Collection</collection><collection>ProQuest Central</collection><collection>Natural Science Collection</collection><collection>Environmental Sciences and Pollution Management</collection><collection>ProQuest One Community College</collection><collection>ProQuest Central Korea</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>ProQuest Central Student</collection><collection>SciTech Premium Collection</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>ProQuest Biological Science Collection</collection><collection>Agricultural Science Database</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>Medical Database</collection><collection>ProQuest Psychology</collection><collection>Biological Science Database</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>ProQuest One Psychology</collection><collection>ProQuest Central Basic</collection><collection>MEDLINE - Academic</collection><jtitle>International Journal of Obesity</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Cummings, N</au><au>Shields, K A</au><au>Curran, J E</au><au>Bozaoglu, K</au><au>Trevaskis, J</au><au>Gluschenko, K</au><au>Cai, G</au><au>Comuzzie, A G</au><au>Dyer, T D</au><au>Walder, K R</au><au>Zimmet, P</au><au>Collier, G R</au><au>Blangero, J</au><au>Jowett, J B M</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Genetic variation in SH3-domain GRB2-like (endophilin)-interacting protein 1 has a major impact on fat mass</atitle><jtitle>International Journal of Obesity</jtitle><stitle>Int J Obes</stitle><addtitle>Int J Obes (Lond)</addtitle><date>2012-02-01</date><risdate>2012</risdate><volume>36</volume><issue>2</issue><spage>201</spage><epage>206</epage><pages>201-206</pages><issn>0307-0565</issn><eissn>1476-5497</eissn><coden>IJOBDP</coden><abstract>Objective:
The SH3-domain GRB2-like (endophilin)-interacting protein 1 (
SGIP1
) gene has been shown to be differentially expressed in the hypothalamus of lean versus obese Israeli sand rats (
Psammomys obesus
), and is suspected of having a role in regulating food intake. The purpose of this study was to assess the role of genetic variation in
SGIP1
in human disease.
Subjects:
We performed single-nucleotide polymorphism (SNP) genotyping in a large family pedigree cohort from the island of Mauritius. The Mauritius Family Study (MFS) consists of 400 individuals from 24 Indo-Mauritian families recruited from the genetically homogeneous population of Mauritius. We measured markers of the metabolic syndrome, including diabetes and obesity-related phenotypes such as fasting plasma glucose, waist:hip ratio, body mass index and fat mass.
Results:
Statistical genetic analysis revealed associations between
SGIP1
polymorphisms and fat mass (in kilograms) as measured by bioimpedance. SNP genotyping identified associations between several genetic variants and fat mass, with the strongest association for rs2146905 (
P
=4.7 × 10
−5
). A strong allelic effect was noted for several SNPs where fat mass was reduced by up to 9.4% for individuals homozygous for the minor allele.
Conclusions:
Our results show association between genetic variants in
SGIP1
and fat mass. We provide evidence that variation in
SGIP1
is a potentially important determinant of obesity-related traits in humans.</abstract><cop>London</cop><pub>Nature Publishing Group UK</pub><pmid>21407171</pmid><doi>10.1038/ijo.2011.67</doi><tpages>6</tpages></addata></record> |
fulltext | fulltext |
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ispartof | International Journal of Obesity, 2012-02, Vol.36 (2), p.201-206 |
issn | 0307-0565 1476-5497 |
language | eng |
recordid | cdi_proquest_miscellaneous_921569389 |
source | MEDLINE; Nature; EZB-FREE-00999 freely available EZB journals; SpringerLink Journals - AutoHoldings |
subjects | Adult Aged Aged, 80 and over Alpha-Ketoglutarate-Dependent Dioxygenase FTO Animals Biological and medical sciences Biomedical research Body Composition - genetics Body mass index Carrier Proteins - genetics Cohort Studies Diabetes Diabetes Mellitus, Type 2 - genetics Eating - genetics Epidemiology Family studies Female Food Genes Genetic aspects Genetic diversity Genetic Predisposition to Disease Genetic variance Genomes Genomics Health Promotion and Disease Prevention Homeostasis Humans Hypothalamus Internal Medicine International organizations Male Mauritius - epidemiology Medical sciences Medicine Medicine & Public Health Metabolic Diseases Metabolic disorders Metabolic syndrome Metabolic Syndrome - epidemiology Metabolic Syndrome - genetics Middle Aged Obesity Obesity - epidemiology Obesity - genetics original-article Pedigree Phenotype Physiological aspects Polymorphism Polymorphism, Single Nucleotide Prevalence Proteins Proteins - genetics Public Health Rats Risk factors Sand Single nucleotide polymorphisms src Homology Domains - genetics Young Adult |
title | Genetic variation in SH3-domain GRB2-like (endophilin)-interacting protein 1 has a major impact on fat mass |
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