Association of melanin-concentrating hormone receptor 1 5' polymorphism with early-onset extreme obesity
Identifieur interne : 00A746 ( Main/Exploration ); précédent : 00A745; suivant : 00A747Association of melanin-concentrating hormone receptor 1 5' polymorphism with early-onset extreme obesity
Auteurs : Christopher G. Bell [Royaume-Uni, Australie] ; David Meyre [France] ; Chantal Samson [France] ; Cliona Boyle [Royaume-Uni] ; Cécile Lecoeur [France] ; Maite Tauber [France] ; Béatrice Jouret [France] ; Delphine Jaquet [France] ; Claire Levy-Marchal [France] ; Marie Aline Charles [France] ; Jacques Weill [France] ; Fernando Gibson [Royaume-Uni] ; Charles A. Mein [Royaume-Uni] ; Philippe Froguel [Royaume-Uni, France] ; Andrew J. Walley [Royaume-Uni]Source :
- Diabetes : (New York, NY) [ 0012-1797 ] ; 2005.
Descripteurs français
- Pascal (Inist)
- Wicri :
- topic : Association, Diabète.
English descriptors
- KwdEn :
Abstract
Murine models have been highly effective in identifying the monogenic forms of human obesity discovered to date. Melanin-concentrating hormone receptor 1 (MCHR1) has been shown to be significant in the downstream orexigenic activity of the leptin-melanocortin pathway by such models. In this study, the human MCHR1 gene was extensively characterized by sequencing 3.5 kb of coding, untranslated and intronic regions plus 1 kb of putative promoter region in 180 morbidly obese adults and 87 morbidly obese children, a total of >2.4 Mb of sequencing. Thirty-nine single nucleotide polymorphisms (SNPs) were found, seven of which encode an amino acid change. One mutation, R248Q, appeared to cosegregate with the obesity trait in one pedigree but was also found to be a rare polymorphism in control samples. To investigate the possible polygenic role of MCHR1, the six common SNPs (minor allele frequency >5%) found in the sequenced regions were then screened in 557 morbidly obese adults, 552 obese children, and 1,195 nonobese nondiabetic control subjects. The plausible promoter SNP, rs133068, was found to be associated with protection against obesity in obese children only (allele frequency P = 0.006 and genotype frequency P = 0.004). Most significant results were found when using a dominant model (P = 0.001, odds ratio 0.695 [95% CI 0.560-0.863]). However, similar associations were found when both adults and children were analyzed together (P = 0.006, 0.783 [0.658-0.930]), suggesting that severe forms of obesity with early onset may be associated with SNPs in MCHR1.
Affiliations:
- Australie, France, Royaume-Uni
- Angleterre, Grand Londres, Hauts-de-France, Midi-Pyrénées, Nord-Pas-de-Calais, Nouvelle-Galles du Sud, Occitanie (région administrative), Île-de-France
- Lille, Londres, Paris, Sydney, Toulouse
Links toward previous steps (curation, corpus...)
- to stream PascalFrancis, to step Corpus: 004715
- to stream PascalFrancis, to step Curation: 001988
- to stream PascalFrancis, to step Checkpoint: 004735
- to stream Main, to step Merge: 00B385
- to stream Main, to step Curation: 00A746
Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en" level="a">Association of melanin-concentrating hormone receptor 1 5' polymorphism with early-onset extreme obesity</title><author><name sortKey="Bell, Christopher G" sort="Bell, Christopher G" uniqKey="Bell C" first="Christopher G." last="Bell">Christopher G. Bell</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Section of Genomic Medicine, Faculty of Medicine, Imperial College, Hammersmith Hospital</s1><s2>London</s2><s3>GBR</s3><sZ>1 aut.</sZ><sZ>4 aut.</sZ><sZ>12 aut.</sZ><sZ>14 aut.</sZ><sZ>15 aut.</sZ></inist:fA14><country>Royaume-Uni</country><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation><affiliation wicri:level="3"><inist:fA14 i1="02"><s1>Department of Haematology and Genetics, South Eastern Area Laboratory Services, Prince of Wales Hospital</s1><s2>Sydney</s2><s3>AUS</s3><sZ>1 aut.</sZ></inist:fA14><country>Australie</country><placeName><settlement type="city">Sydney</settlement><region type="état">Nouvelle-Galles du Sud</region></placeName></affiliation></author><author><name sortKey="Meyre, David" sort="Meyre, David" uniqKey="Meyre D" first="David" last="Meyre">David Meyre</name><affiliation wicri:level="3"><inist:fA14 i1="03"><s1>Centre National de la Recherche Scientifique, UMR 8090, Pasteur Institute</s1><s2>Lille</s2><s3>FRA</s3><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>5 aut.</sZ><sZ>14 aut.</sZ></inist:fA14><country>France</country><placeName><region type="region">Hauts-de-France</region><region type="old region">Nord-Pas-de-Calais</region><settlement type="city">Lille</settlement></placeName></affiliation></author><author><name sortKey="Samson, Chantal" sort="Samson, Chantal" uniqKey="Samson C" first="Chantal" last="Samson">Chantal Samson</name><affiliation wicri:level="3"><inist:fA14 i1="03"><s1>Centre National de la Recherche Scientifique, UMR 8090, Pasteur Institute</s1><s2>Lille</s2><s3>FRA</s3><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>5 aut.</sZ><sZ>14 aut.</sZ></inist:fA14><country>France</country><placeName><region type="region">Hauts-de-France</region><region type="old region">Nord-Pas-de-Calais</region><settlement type="city">Lille</settlement></placeName></affiliation></author><author><name sortKey="Boyle, Cliona" sort="Boyle, Cliona" uniqKey="Boyle C" first="Cliona" last="Boyle">Cliona Boyle</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Section of Genomic Medicine, Faculty of Medicine, Imperial College, Hammersmith Hospital</s1><s2>London</s2><s3>GBR</s3><sZ>1 aut.</sZ><sZ>4 aut.</sZ><sZ>12 aut.</sZ><sZ>14 aut.</sZ><sZ>15 aut.</sZ></inist:fA14><country>Royaume-Uni</country><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Lecoeur, Cecile" sort="Lecoeur, Cecile" uniqKey="Lecoeur C" first="Cécile" last="Lecoeur">Cécile Lecoeur</name><affiliation wicri:level="3"><inist:fA14 i1="03"><s1>Centre National de la Recherche Scientifique, UMR 8090, Pasteur Institute</s1><s2>Lille</s2><s3>FRA</s3><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>5 aut.</sZ><sZ>14 aut.</sZ></inist:fA14><country>France</country><placeName><region type="region">Hauts-de-France</region><region type="old region">Nord-Pas-de-Calais</region><settlement type="city">Lille</settlement></placeName></affiliation></author><author><name sortKey="Tauber, Maite" sort="Tauber, Maite" uniqKey="Tauber M" first="Maite" last="Tauber">Maite Tauber</name><affiliation wicri:level="3"><inist:fA14 i1="04"><s1>INSERM U563, Children's Hospital</s1><s2>Toulouse</s2><s3>FRA</s3><sZ>6 aut.</sZ><sZ>7 aut.</sZ></inist:fA14><country>France</country><placeName><region type="region">Occitanie (région administrative)</region><region type="old region">Midi-Pyrénées</region><settlement type="city">Toulouse</settlement></placeName></affiliation></author><author><name sortKey="Jouret, Beatrice" sort="Jouret, Beatrice" uniqKey="Jouret B" first="Béatrice" last="Jouret">Béatrice Jouret</name><affiliation wicri:level="3"><inist:fA14 i1="04"><s1>INSERM U563, Children's Hospital</s1><s2>Toulouse</s2><s3>FRA</s3><sZ>6 aut.</sZ><sZ>7 aut.</sZ></inist:fA14><country>France</country><placeName><region type="region">Occitanie (région administrative)</region><region type="old region">Midi-Pyrénées</region><settlement type="city">Toulouse</settlement></placeName></affiliation></author><author><name sortKey="Jaquet, Delphine" sort="Jaquet, Delphine" uniqKey="Jaquet D" first="Delphine" last="Jaquet">Delphine Jaquet</name><affiliation wicri:level="3"><inist:fA14 i1="05"><s1>INSERM U457, Robert Debre Hospital</s1><s2>Paris</s2><s3>FRA</s3><sZ>8 aut.</sZ><sZ>9 aut.</sZ></inist:fA14><country>France</country><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Levy Marchal, Claire" sort="Levy Marchal, Claire" uniqKey="Levy Marchal C" first="Claire" last="Levy-Marchal">Claire Levy-Marchal</name><affiliation wicri:level="3"><inist:fA14 i1="05"><s1>INSERM U457, Robert Debre Hospital</s1><s2>Paris</s2><s3>FRA</s3><sZ>8 aut.</sZ><sZ>9 aut.</sZ></inist:fA14><country>France</country><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Charles, Marie Aline" sort="Charles, Marie Aline" uniqKey="Charles M" first="Marie Aline" last="Charles">Marie Aline Charles</name><affiliation wicri:level="1"><inist:fA14 i1="06"><s1>INSERM, U258-IFR69, Paris South Faculty of Medicine</s1><s2>Villejuif</s2><s3>FRA</s3><sZ>10 aut.</sZ></inist:fA14><country>France</country><wicri:noRegion>Villejuif</wicri:noRegion><wicri:noRegion>Paris South Faculty of Medicine</wicri:noRegion><wicri:noRegion>Villejuif</wicri:noRegion></affiliation></author><author><name sortKey="Weill, Jacques" sort="Weill, Jacques" uniqKey="Weill J" first="Jacques" last="Weill">Jacques Weill</name><affiliation wicri:level="3"><inist:fA14 i1="07"><s1>Pediatric Endocrine Unit, Jeanne de Flandre Hospital</s1><s2>Lille</s2><s3>FRA</s3><sZ>11 aut.</sZ></inist:fA14><country>France</country><placeName><region type="region">Hauts-de-France</region><region type="old region">Nord-Pas-de-Calais</region><settlement type="city">Lille</settlement></placeName></affiliation></author><author><name sortKey="Gibson, Fernando" sort="Gibson, Fernando" uniqKey="Gibson F" first="Fernando" last="Gibson">Fernando Gibson</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Section of Genomic Medicine, Faculty of Medicine, Imperial College, Hammersmith Hospital</s1><s2>London</s2><s3>GBR</s3><sZ>1 aut.</sZ><sZ>4 aut.</sZ><sZ>12 aut.</sZ><sZ>14 aut.</sZ><sZ>15 aut.</sZ></inist:fA14><country>Royaume-Uni</country><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Mein, Charles A" sort="Mein, Charles A" uniqKey="Mein C" first="Charles A." last="Mein">Charles A. Mein</name><affiliation wicri:level="3"><inist:fA14 i1="08"><s1>Bart's and the London Genome Centre, Queen Mary's School of Medicine</s1><s2>London</s2><s3>GBR</s3><sZ>13 aut.</sZ></inist:fA14><country>Royaume-Uni</country><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Froguel, Philippe" sort="Froguel, Philippe" uniqKey="Froguel P" first="Philippe" last="Froguel">Philippe Froguel</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Section of Genomic Medicine, Faculty of Medicine, Imperial College, Hammersmith Hospital</s1><s2>London</s2><s3>GBR</s3><sZ>1 aut.</sZ><sZ>4 aut.</sZ><sZ>12 aut.</sZ><sZ>14 aut.</sZ><sZ>15 aut.</sZ></inist:fA14><country>Royaume-Uni</country><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation><affiliation wicri:level="3"><inist:fA14 i1="03"><s1>Centre National de la Recherche Scientifique, UMR 8090, Pasteur Institute</s1><s2>Lille</s2><s3>FRA</s3><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>5 aut.</sZ><sZ>14 aut.</sZ></inist:fA14><country>France</country><placeName><region type="region">Hauts-de-France</region><region type="old region">Nord-Pas-de-Calais</region><settlement type="city">Lille</settlement></placeName></affiliation></author><author><name sortKey="Walley, Andrew J" sort="Walley, Andrew J" uniqKey="Walley A" first="Andrew J." last="Walley">Andrew J. Walley</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Section of Genomic Medicine, Faculty of Medicine, Imperial College, Hammersmith Hospital</s1><s2>London</s2><s3>GBR</s3><sZ>1 aut.</sZ><sZ>4 aut.</sZ><sZ>12 aut.</sZ><sZ>14 aut.</sZ><sZ>15 aut.</sZ></inist:fA14><country>Royaume-Uni</country><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">INIST</idno><idno type="inist">05-0457507</idno><date when="2005">2005</date><idno type="stanalyst">PASCAL 05-0457507 INIST</idno><idno type="RBID">Pascal:05-0457507</idno><idno type="wicri:Area/PascalFrancis/Corpus">004715</idno><idno type="wicri:Area/PascalFrancis/Curation">001988</idno><idno type="wicri:Area/PascalFrancis/Checkpoint">004735</idno><idno type="wicri:explorRef" wicri:stream="PascalFrancis" wicri:step="Checkpoint">004735</idno><idno type="wicri:doubleKey">0012-1797:2005:Bell C:association:of:melanin</idno><idno type="wicri:Area/Main/Merge">00B385</idno><idno type="wicri:Area/Main/Curation">00A746</idno><idno type="wicri:Area/Main/Exploration">00A746</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">Association of melanin-concentrating hormone receptor 1 5' polymorphism with early-onset extreme obesity</title><author><name sortKey="Bell, Christopher G" sort="Bell, Christopher G" uniqKey="Bell C" first="Christopher G." last="Bell">Christopher G. Bell</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Section of Genomic Medicine, Faculty of Medicine, Imperial College, Hammersmith Hospital</s1><s2>London</s2><s3>GBR</s3><sZ>1 aut.</sZ><sZ>4 aut.</sZ><sZ>12 aut.</sZ><sZ>14 aut.</sZ><sZ>15 aut.</sZ></inist:fA14><country>Royaume-Uni</country><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation><affiliation wicri:level="3"><inist:fA14 i1="02"><s1>Department of Haematology and Genetics, South Eastern Area Laboratory Services, Prince of Wales Hospital</s1><s2>Sydney</s2><s3>AUS</s3><sZ>1 aut.</sZ></inist:fA14><country>Australie</country><placeName><settlement type="city">Sydney</settlement><region type="état">Nouvelle-Galles du Sud</region></placeName></affiliation></author><author><name sortKey="Meyre, David" sort="Meyre, David" uniqKey="Meyre D" first="David" last="Meyre">David Meyre</name><affiliation wicri:level="3"><inist:fA14 i1="03"><s1>Centre National de la Recherche Scientifique, UMR 8090, Pasteur Institute</s1><s2>Lille</s2><s3>FRA</s3><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>5 aut.</sZ><sZ>14 aut.</sZ></inist:fA14><country>France</country><placeName><region type="region">Hauts-de-France</region><region type="old region">Nord-Pas-de-Calais</region><settlement type="city">Lille</settlement></placeName></affiliation></author><author><name sortKey="Samson, Chantal" sort="Samson, Chantal" uniqKey="Samson C" first="Chantal" last="Samson">Chantal Samson</name><affiliation wicri:level="3"><inist:fA14 i1="03"><s1>Centre National de la Recherche Scientifique, UMR 8090, Pasteur Institute</s1><s2>Lille</s2><s3>FRA</s3><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>5 aut.</sZ><sZ>14 aut.</sZ></inist:fA14><country>France</country><placeName><region type="region">Hauts-de-France</region><region type="old region">Nord-Pas-de-Calais</region><settlement type="city">Lille</settlement></placeName></affiliation></author><author><name sortKey="Boyle, Cliona" sort="Boyle, Cliona" uniqKey="Boyle C" first="Cliona" last="Boyle">Cliona Boyle</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Section of Genomic Medicine, Faculty of Medicine, Imperial College, Hammersmith Hospital</s1><s2>London</s2><s3>GBR</s3><sZ>1 aut.</sZ><sZ>4 aut.</sZ><sZ>12 aut.</sZ><sZ>14 aut.</sZ><sZ>15 aut.</sZ></inist:fA14><country>Royaume-Uni</country><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Lecoeur, Cecile" sort="Lecoeur, Cecile" uniqKey="Lecoeur C" first="Cécile" last="Lecoeur">Cécile Lecoeur</name><affiliation wicri:level="3"><inist:fA14 i1="03"><s1>Centre National de la Recherche Scientifique, UMR 8090, Pasteur Institute</s1><s2>Lille</s2><s3>FRA</s3><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>5 aut.</sZ><sZ>14 aut.</sZ></inist:fA14><country>France</country><placeName><region type="region">Hauts-de-France</region><region type="old region">Nord-Pas-de-Calais</region><settlement type="city">Lille</settlement></placeName></affiliation></author><author><name sortKey="Tauber, Maite" sort="Tauber, Maite" uniqKey="Tauber M" first="Maite" last="Tauber">Maite Tauber</name><affiliation wicri:level="3"><inist:fA14 i1="04"><s1>INSERM U563, Children's Hospital</s1><s2>Toulouse</s2><s3>FRA</s3><sZ>6 aut.</sZ><sZ>7 aut.</sZ></inist:fA14><country>France</country><placeName><region type="region">Occitanie (région administrative)</region><region type="old region">Midi-Pyrénées</region><settlement type="city">Toulouse</settlement></placeName></affiliation></author><author><name sortKey="Jouret, Beatrice" sort="Jouret, Beatrice" uniqKey="Jouret B" first="Béatrice" last="Jouret">Béatrice Jouret</name><affiliation wicri:level="3"><inist:fA14 i1="04"><s1>INSERM U563, Children's Hospital</s1><s2>Toulouse</s2><s3>FRA</s3><sZ>6 aut.</sZ><sZ>7 aut.</sZ></inist:fA14><country>France</country><placeName><region type="region">Occitanie (région administrative)</region><region type="old region">Midi-Pyrénées</region><settlement type="city">Toulouse</settlement></placeName></affiliation></author><author><name sortKey="Jaquet, Delphine" sort="Jaquet, Delphine" uniqKey="Jaquet D" first="Delphine" last="Jaquet">Delphine Jaquet</name><affiliation wicri:level="3"><inist:fA14 i1="05"><s1>INSERM U457, Robert Debre Hospital</s1><s2>Paris</s2><s3>FRA</s3><sZ>8 aut.</sZ><sZ>9 aut.</sZ></inist:fA14><country>France</country><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Levy Marchal, Claire" sort="Levy Marchal, Claire" uniqKey="Levy Marchal C" first="Claire" last="Levy-Marchal">Claire Levy-Marchal</name><affiliation wicri:level="3"><inist:fA14 i1="05"><s1>INSERM U457, Robert Debre Hospital</s1><s2>Paris</s2><s3>FRA</s3><sZ>8 aut.</sZ><sZ>9 aut.</sZ></inist:fA14><country>France</country><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Charles, Marie Aline" sort="Charles, Marie Aline" uniqKey="Charles M" first="Marie Aline" last="Charles">Marie Aline Charles</name><affiliation wicri:level="1"><inist:fA14 i1="06"><s1>INSERM, U258-IFR69, Paris South Faculty of Medicine</s1><s2>Villejuif</s2><s3>FRA</s3><sZ>10 aut.</sZ></inist:fA14><country>France</country><wicri:noRegion>Villejuif</wicri:noRegion><wicri:noRegion>Paris South Faculty of Medicine</wicri:noRegion><wicri:noRegion>Villejuif</wicri:noRegion></affiliation></author><author><name sortKey="Weill, Jacques" sort="Weill, Jacques" uniqKey="Weill J" first="Jacques" last="Weill">Jacques Weill</name><affiliation wicri:level="3"><inist:fA14 i1="07"><s1>Pediatric Endocrine Unit, Jeanne de Flandre Hospital</s1><s2>Lille</s2><s3>FRA</s3><sZ>11 aut.</sZ></inist:fA14><country>France</country><placeName><region type="region">Hauts-de-France</region><region type="old region">Nord-Pas-de-Calais</region><settlement type="city">Lille</settlement></placeName></affiliation></author><author><name sortKey="Gibson, Fernando" sort="Gibson, Fernando" uniqKey="Gibson F" first="Fernando" last="Gibson">Fernando Gibson</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Section of Genomic Medicine, Faculty of Medicine, Imperial College, Hammersmith Hospital</s1><s2>London</s2><s3>GBR</s3><sZ>1 aut.</sZ><sZ>4 aut.</sZ><sZ>12 aut.</sZ><sZ>14 aut.</sZ><sZ>15 aut.</sZ></inist:fA14><country>Royaume-Uni</country><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Mein, Charles A" sort="Mein, Charles A" uniqKey="Mein C" first="Charles A." last="Mein">Charles A. Mein</name><affiliation wicri:level="3"><inist:fA14 i1="08"><s1>Bart's and the London Genome Centre, Queen Mary's School of Medicine</s1><s2>London</s2><s3>GBR</s3><sZ>13 aut.</sZ></inist:fA14><country>Royaume-Uni</country><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Froguel, Philippe" sort="Froguel, Philippe" uniqKey="Froguel P" first="Philippe" last="Froguel">Philippe Froguel</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Section of Genomic Medicine, Faculty of Medicine, Imperial College, Hammersmith Hospital</s1><s2>London</s2><s3>GBR</s3><sZ>1 aut.</sZ><sZ>4 aut.</sZ><sZ>12 aut.</sZ><sZ>14 aut.</sZ><sZ>15 aut.</sZ></inist:fA14><country>Royaume-Uni</country><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation><affiliation wicri:level="3"><inist:fA14 i1="03"><s1>Centre National de la Recherche Scientifique, UMR 8090, Pasteur Institute</s1><s2>Lille</s2><s3>FRA</s3><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>5 aut.</sZ><sZ>14 aut.</sZ></inist:fA14><country>France</country><placeName><region type="region">Hauts-de-France</region><region type="old region">Nord-Pas-de-Calais</region><settlement type="city">Lille</settlement></placeName></affiliation></author><author><name sortKey="Walley, Andrew J" sort="Walley, Andrew J" uniqKey="Walley A" first="Andrew J." last="Walley">Andrew J. Walley</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Section of Genomic Medicine, Faculty of Medicine, Imperial College, Hammersmith Hospital</s1><s2>London</s2><s3>GBR</s3><sZ>1 aut.</sZ><sZ>4 aut.</sZ><sZ>12 aut.</sZ><sZ>14 aut.</sZ><sZ>15 aut.</sZ></inist:fA14><country>Royaume-Uni</country><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author></analytic><series><title level="j" type="main">Diabetes : (New York, NY)</title><title level="j" type="abbreviated">Diabetes : (N.Y. NY)</title><idno type="ISSN">0012-1797</idno><imprint><date when="2005">2005</date></imprint></series></biblStruct></sourceDesc><seriesStmt><title level="j" type="main">Diabetes : (New York, NY)</title><title level="j" type="abbreviated">Diabetes : (N.Y. NY)</title><idno type="ISSN">0012-1797</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Association</term><term>Biological receptor</term><term>Diabetes mellitus</term><term>Melanin concentrating hormone</term><term>Nutritional status</term><term>Obesity</term><term>Polymorphism</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Association</term><term>Hormone concentrant mélanine</term><term>Récepteur biologique</term><term>Polymorphisme</term><term>Obésité</term><term>Diabète</term><term>Etat nutritionnel</term></keywords><keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Association</term><term>Diabète</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Murine models have been highly effective in identifying the monogenic forms of human obesity discovered to date. Melanin-concentrating hormone receptor 1 (MCHR1) has been shown to be significant in the downstream orexigenic activity of the leptin-melanocortin pathway by such models. In this study, the human MCHR1 gene was extensively characterized by sequencing 3.5 kb of coding, untranslated and intronic regions plus 1 kb of putative promoter region in 180 morbidly obese adults and 87 morbidly obese children, a total of >2.4 Mb of sequencing. Thirty-nine single nucleotide polymorphisms (SNPs) were found, seven of which encode an amino acid change. One mutation, R248Q, appeared to cosegregate with the obesity trait in one pedigree but was also found to be a rare polymorphism in control samples. To investigate the possible polygenic role of MCHR1, the six common SNPs (minor allele frequency >5%) found in the sequenced regions were then screened in 557 morbidly obese adults, 552 obese children, and 1,195 nonobese nondiabetic control subjects. The plausible promoter SNP, rs133068, was found to be associated with protection against obesity in obese children only (allele frequency P = 0.006 and genotype frequency P = 0.004). Most significant results were found when using a dominant model (P = 0.001, odds ratio 0.695 [95% CI 0.560-0.863]). However, similar associations were found when both adults and children were analyzed together (P = 0.006, 0.783 [0.658-0.930]), suggesting that severe forms of obesity with early onset may be associated with SNPs in MCHR1.</div></front></TEI><affiliations><list><country><li>Australie</li><li>France</li><li>Royaume-Uni</li></country><region><li>Angleterre</li><li>Grand Londres</li><li>Hauts-de-France</li><li>Midi-Pyrénées</li><li>Nord-Pas-de-Calais</li><li>Nouvelle-Galles du Sud</li><li>Occitanie (région administrative)</li><li>Île-de-France</li></region><settlement><li>Lille</li><li>Londres</li><li>Paris</li><li>Sydney</li><li>Toulouse</li></settlement></list><tree><country name="Royaume-Uni"><region name="Angleterre"><name sortKey="Bell, Christopher G" sort="Bell, Christopher G" uniqKey="Bell C" first="Christopher G." last="Bell">Christopher G. Bell</name></region><name sortKey="Boyle, Cliona" sort="Boyle, Cliona" uniqKey="Boyle C" first="Cliona" last="Boyle">Cliona Boyle</name><name sortKey="Froguel, Philippe" sort="Froguel, Philippe" uniqKey="Froguel P" first="Philippe" last="Froguel">Philippe Froguel</name><name sortKey="Gibson, Fernando" sort="Gibson, Fernando" uniqKey="Gibson F" first="Fernando" last="Gibson">Fernando Gibson</name><name sortKey="Mein, Charles A" sort="Mein, Charles A" uniqKey="Mein C" first="Charles A." last="Mein">Charles A. Mein</name><name sortKey="Walley, Andrew J" sort="Walley, Andrew J" uniqKey="Walley A" first="Andrew J." last="Walley">Andrew J. Walley</name></country><country name="Australie"><region name="Nouvelle-Galles du Sud"><name sortKey="Bell, Christopher G" sort="Bell, Christopher G" uniqKey="Bell C" first="Christopher G." last="Bell">Christopher G. Bell</name></region></country><country name="France"><region name="Hauts-de-France"><name sortKey="Meyre, David" sort="Meyre, David" uniqKey="Meyre D" first="David" last="Meyre">David Meyre</name></region><name sortKey="Charles, Marie Aline" sort="Charles, Marie Aline" uniqKey="Charles M" first="Marie Aline" last="Charles">Marie Aline Charles</name><name sortKey="Froguel, Philippe" sort="Froguel, Philippe" uniqKey="Froguel P" first="Philippe" last="Froguel">Philippe Froguel</name><name sortKey="Jaquet, Delphine" sort="Jaquet, Delphine" uniqKey="Jaquet D" first="Delphine" last="Jaquet">Delphine Jaquet</name><name sortKey="Jouret, Beatrice" sort="Jouret, Beatrice" uniqKey="Jouret B" first="Béatrice" last="Jouret">Béatrice Jouret</name><name sortKey="Lecoeur, Cecile" sort="Lecoeur, Cecile" uniqKey="Lecoeur C" first="Cécile" last="Lecoeur">Cécile Lecoeur</name><name sortKey="Levy Marchal, Claire" sort="Levy Marchal, Claire" uniqKey="Levy Marchal C" first="Claire" last="Levy-Marchal">Claire Levy-Marchal</name><name sortKey="Samson, Chantal" sort="Samson, Chantal" uniqKey="Samson C" first="Chantal" last="Samson">Chantal Samson</name><name sortKey="Tauber, Maite" sort="Tauber, Maite" uniqKey="Tauber M" first="Maite" last="Tauber">Maite Tauber</name><name sortKey="Weill, Jacques" sort="Weill, Jacques" uniqKey="Weill J" first="Jacques" last="Weill">Jacques Weill</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Asie/explor/AustralieFrV1/Data/Main/Exploration
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 00A746 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Main/Exploration/biblio.hfd -nk 00A746 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien
|wiki= Wicri/Asie
|area= AustralieFrV1
|flux= Main
|étape= Exploration
|type= RBID
|clé= Pascal:05-0457507
|texte= Association of melanin-concentrating hormone receptor 1 5' polymorphism with early-onset extreme obesity
}}
| This area was generated with Dilib version V0.6.33. |  |