Evaluation of a Cys23Ser mutation within the human 5-HT2C receptor gene: No evidence for an association of the mutant allele with obesity or underweight in children, adolescents and young adults
Identifieur interne : 002446 ( Main/Curation ); précédent : 002445; suivant : 002447Evaluation of a Cys23Ser mutation within the human 5-HT2C receptor gene: No evidence for an association of the mutant allele with obesity or underweight in children, adolescents and young adults
Auteurs : K.-U. Lentes [Allemagne] ; A. Hinney [Allemagne] ; A. Ziegler [Allemagne] ; K. Rosenkranz [Allemagne] ; H. Wurmser [Allemagne] ; N. Barth [Allemagne] ; K. Jacob [Allemagne] ; H. Coners [Allemagne] ; H. Mayer [Allemagne] ; K.-H. Grzeschik [Allemagne] ; H. Sch Fer [Allemagne] ; H. Remschmidt [Allemagne] ; K. M. Pirke [Allemagne] ; J. Hebebrand [Allemagne]Source :
- Life Sciences [ 0024-3205 ] ; 1997.
English descriptors
- KwdEn :
- MESH :
- chemical , genetics : Receptors, Serotonin.
- genetics : Mutation, Obesity.
- physiology : Body Weight.
- Adolescent, Adult, Alleles, Child, Female, Humans, Male.
Abstract
Serotonin is a neurotransmitter involved in a large number of psychophysiological processes including the regulation of mood, arousal, aggression, sleep, learning, nociceptions, nerve growth and importantly, appetitive functions. Alterations of 5-HT receptor activity have been shown to occur in many psychiatric diseases including depression, anxiety, eating disorders, schizophrenia etc. Hence, genetic variation in genes coding for serotonin receptor proteins might well be involved in the genetic predisposition to these diseases and therefore are of great pharmacogenetic relevance. Knockout mice deficient of a functional 5-HT2C receptor have implicated a potential role of this receptor subtype in the serotonergic control of appetite. A Cys23Ser mutation in the human 5-HT2C receptor gene discovered recently prompted us to investigate this mutation with regard to the development of human obesity. We have evaluated this mutation in 241 obese children and adolescents (mean BMI ≥ 97th percentile), 80 normal weight children (BMI 5th – 85th percentile) and 92 underweight probands (BMI ≤ 15th percentile) for a possible association with obesity. The frequencies of the mutant allele in all three weight groups (obese subjects: 0.1597; normal weight: 0.168; underweight: 0.1575) were very similar. Association as well as linkage studies were negative. Therefore it is unlikely that this receptor mutation plays a direct role in the development of human obesity.
Url:
DOI: 10.1016/S0024-3205(97)00361-5
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Hebebrand</name><affiliation wicri:level="1"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Child and Adolescent Psychiatry, Clinical Research Group</wicri:regionArea><wicri:noRegion>Clinical Research Group</wicri:noRegion><wicri:noRegion>Clinical Research Group</wicri:noRegion></affiliation></author></analytic><monogr></monogr><series><title level="j">Life Sciences</title><title level="j" type="abbrev">LFS</title><idno type="ISSN">0024-3205</idno><imprint><publisher>ELSEVIER</publisher><date type="published" when="1997">1997</date><biblScope unit="volume">61</biblScope><biblScope unit="issue">1</biblScope><biblScope unit="page" from="PL9">PL9</biblScope><biblScope unit="page" to="PL16">PL16</biblScope></imprint><idno type="ISSN">0024-3205</idno></series><idno type="istex">D9E6746C5EE791DA4173DE8C8E9E7B5EA3353914</idno><idno type="DOI">10.1016/S0024-3205(97)00361-5</idno><idno type="PII">S0024-3205(97)00361-5</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0024-3205</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adolescent</term><term>Adult</term><term>Alleles</term><term>Body Weight (physiology)</term><term>Child</term><term>Female</term><term>Humans</term><term>Male</term><term>Mutation (genetics)</term><term>Obesity (genetics)</term><term>Receptors, Serotonin (genetics)</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Receptors, Serotonin</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Mutation</term><term>Obesity</term></keywords><keywords scheme="MESH" qualifier="physiology" xml:lang="en"><term>Body Weight</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adolescent</term><term>Adult</term><term>Alleles</term><term>Child</term><term>Female</term><term>Humans</term><term>Male</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Serotonin is a neurotransmitter involved in a large number of psychophysiological processes including the regulation of mood, arousal, aggression, sleep, learning, nociceptions, nerve growth and importantly, appetitive functions. Alterations of 5-HT receptor activity have been shown to occur in many psychiatric diseases including depression, anxiety, eating disorders, schizophrenia etc. Hence, genetic variation in genes coding for serotonin receptor proteins might well be involved in the genetic predisposition to these diseases and therefore are of great pharmacogenetic relevance. Knockout mice deficient of a functional 5-HT2C receptor have implicated a potential role of this receptor subtype in the serotonergic control of appetite. A Cys23Ser mutation in the human 5-HT2C receptor gene discovered recently prompted us to investigate this mutation with regard to the development of human obesity. We have evaluated this mutation in 241 obese children and adolescents (mean BMI ≥ 97th percentile), 80 normal weight children (BMI 5th – 85th percentile) and 92 underweight probands (BMI ≤ 15th percentile) for a possible association with obesity. The frequencies of the mutant allele in all three weight groups (obese subjects: 0.1597; normal weight: 0.168; underweight: 0.1575) were very similar. Association as well as linkage studies were negative. Therefore it is unlikely that this receptor mutation plays a direct role in the development of human obesity.</div></front></TEI><double idat="0024-3205:1997:Lentes K:evaluation:of:a"><ISTEX><TEI wicri:istexFullTextTei="biblStruct"><teiHeader><fileDesc><titleStmt><title>Evaluation of a Cys23Ser mutation within the human 5-HT2C receptor gene: No evidence for an association of the mutant allele with obesity or underweight in children, adolescents and young adults</title><author><name sortKey="Lentes, K U" sort="Lentes, K U" uniqKey="Lentes K" first="K.-U." last="Lentes">K.-U. Lentes</name></author><author><name sortKey="Hinney, A" sort="Hinney, A" uniqKey="Hinney A" first="A." last="Hinney">A. Hinney</name></author><author><name sortKey="Ziegler, A" sort="Ziegler, A" uniqKey="Ziegler A" first="A." last="Ziegler">A. Ziegler</name></author><author><name sortKey="Rosenkranz, K" sort="Rosenkranz, K" uniqKey="Rosenkranz K" first="K." last="Rosenkranz">K. Rosenkranz</name></author><author><name sortKey="Wurmser, H" sort="Wurmser, H" uniqKey="Wurmser H" first="H." last="Wurmser">H. Wurmser</name></author><author><name sortKey="Barth, N" sort="Barth, N" uniqKey="Barth N" first="N." last="Barth">N. Barth</name></author><author><name sortKey="Jacob, K" sort="Jacob, K" uniqKey="Jacob K" first="K." last="Jacob">K. Jacob</name></author><author><name sortKey="Coners, H" sort="Coners, H" uniqKey="Coners H" first="H." last="Coners">H. Coners</name></author><author><name sortKey="Mayer, H" sort="Mayer, H" uniqKey="Mayer H" first="H." last="Mayer">H. Mayer</name></author><author><name sortKey="Grzeschik, K H" sort="Grzeschik, K H" uniqKey="Grzeschik K" first="K.-H." last="Grzeschik">K.-H. Grzeschik</name></author><author><name sortKey="Sch Fer, H" sort="Sch Fer, H" uniqKey="Sch Fer H" first="H." last="Sch Fer">H. Sch Fer</name></author><author><name sortKey="Remschmidt, H" sort="Remschmidt, H" uniqKey="Remschmidt H" first="H." last="Remschmidt">H. Remschmidt</name></author><author><name sortKey="Pirke, K M" sort="Pirke, K M" uniqKey="Pirke K" first="K. M." last="Pirke">K. M. Pirke</name></author><author><name sortKey="Hebebrand, J" sort="Hebebrand, J" uniqKey="Hebebrand J" first="J." last="Hebebrand">J. 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Lentes</name><affiliation wicri:level="1"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Center for Psychobiological and Psychosomatic Research</wicri:regionArea></affiliation></author><author><name sortKey="Hinney, A" sort="Hinney, A" uniqKey="Hinney A" first="A." last="Hinney">A. Hinney</name><affiliation wicri:level="1"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Child and Adolescent Psychiatry, Clinical Research Group</wicri:regionArea><wicri:noRegion>Clinical Research Group</wicri:noRegion><wicri:noRegion>Clinical Research Group</wicri:noRegion></affiliation></author><author><name sortKey="Ziegler, A" sort="Ziegler, A" uniqKey="Ziegler A" first="A." last="Ziegler">A. Ziegler</name><affiliation wicri:level="1"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Institute of Medical Biometry</wicri:regionArea></affiliation></author><author><name sortKey="Rosenkranz, K" sort="Rosenkranz, K" uniqKey="Rosenkranz K" first="K." last="Rosenkranz">K. Rosenkranz</name><affiliation wicri:level="1"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Child and Adolescent Psychiatry, Clinical Research Group</wicri:regionArea><wicri:noRegion>Clinical Research Group</wicri:noRegion><wicri:noRegion>Clinical Research Group</wicri:noRegion></affiliation></author><author><name sortKey="Wurmser, H" sort="Wurmser, H" uniqKey="Wurmser H" first="H." last="Wurmser">H. 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Mayer</name><affiliation wicri:level="1"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Children's Hospital Hochried</wicri:regionArea></affiliation></author><author><name sortKey="Grzeschik, K H" sort="Grzeschik, K H" uniqKey="Grzeschik K" first="K.-H." last="Grzeschik">K.-H. Grzeschik</name><affiliation wicri:level="1"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Institute of Human Genetics</wicri:regionArea></affiliation></author><author><name sortKey="Sch Fer, H" sort="Sch Fer, H" uniqKey="Sch Fer H" first="H." last="Sch Fer">H. Sch Fer</name><affiliation wicri:level="1"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Institute of Medical Biometry</wicri:regionArea></affiliation></author><author><name sortKey="Remschmidt, H" sort="Remschmidt, H" uniqKey="Remschmidt H" first="H." last="Remschmidt">H. Remschmidt</name><affiliation wicri:level="1"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Child and Adolescent Psychiatry, Clinical Research Group</wicri:regionArea><wicri:noRegion>Clinical Research Group</wicri:noRegion><wicri:noRegion>Clinical Research Group</wicri:noRegion></affiliation></author><author><name sortKey="Pirke, K M" sort="Pirke, K M" uniqKey="Pirke K" first="K. M." last="Pirke">K. M. Pirke</name><affiliation wicri:level="1"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Center for Psychobiological and Psychosomatic Research</wicri:regionArea></affiliation></author><author><name sortKey="Hebebrand, J" sort="Hebebrand, J" uniqKey="Hebebrand J" first="J." last="Hebebrand">J. Hebebrand</name><affiliation wicri:level="1"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Child and Adolescent Psychiatry, Clinical Research Group</wicri:regionArea><wicri:noRegion>Clinical Research Group</wicri:noRegion><wicri:noRegion>Clinical Research Group</wicri:noRegion></affiliation></author></analytic><monogr></monogr><series><title level="j">Life Sciences</title><title level="j" type="abbrev">LFS</title><idno type="ISSN">0024-3205</idno><imprint><publisher>ELSEVIER</publisher><date type="published" when="1997">1997</date><biblScope unit="volume">61</biblScope><biblScope unit="issue">1</biblScope><biblScope unit="page" from="PL9">PL9</biblScope><biblScope unit="page" to="PL16">PL16</biblScope></imprint><idno type="ISSN">0024-3205</idno></series><idno type="istex">D9E6746C5EE791DA4173DE8C8E9E7B5EA3353914</idno><idno type="DOI">10.1016/S0024-3205(97)00361-5</idno><idno type="PII">S0024-3205(97)00361-5</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0024-3205</idno></seriesStmt></fileDesc><profileDesc><textClass></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Serotonin is a neurotransmitter involved in a large number of psychophysiological processes including the regulation of mood, arousal, aggression, sleep, learning, nociceptions, nerve growth and importantly, appetitive functions. Alterations of 5-HT receptor activity have been shown to occur in many psychiatric diseases including depression, anxiety, eating disorders, schizophrenia etc. Hence, genetic variation in genes coding for serotonin receptor proteins might well be involved in the genetic predisposition to these diseases and therefore are of great pharmacogenetic relevance. Knockout mice deficient of a functional 5-HT2C receptor have implicated a potential role of this receptor subtype in the serotonergic control of appetite. A Cys23Ser mutation in the human 5-HT2C receptor gene discovered recently prompted us to investigate this mutation with regard to the development of human obesity. We have evaluated this mutation in 241 obese children and adolescents (mean BMI ≥ 97th percentile), 80 normal weight children (BMI 5th – 85th percentile) and 92 underweight probands (BMI ≤ 15th percentile) for a possible association with obesity. The frequencies of the mutant allele in all three weight groups (obese subjects: 0.1597; normal weight: 0.168; underweight: 0.1575) were very similar. Association as well as linkage studies were negative. Therefore it is unlikely that this receptor mutation plays a direct role in the development of human obesity.</div></front></TEI></ISTEX><PubMed><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Evaluation of a Cys23Ser mutation within the human 5-HT2C receptor gene: no evidence for an association of the mutant allele with obesity or underweight in children, adolescents and young adults.</title><author><name sortKey="Lentes, K U" sort="Lentes, K U" uniqKey="Lentes K" first="K U" last="Lentes">K U Lentes</name><affiliation wicri:level="4"><nlm:affiliation>Center for Psychobiological and Psychosomatic Research, University of Trier.</nlm:affiliation><country>Allemagne</country><placeName><settlement type="city">Trèves (Allemagne)</settlement><region type="land" nuts="1">Rhénanie-Palatinat</region></placeName><orgName type="university">Université de Trèves</orgName></affiliation></author><author><name sortKey="Hinney, A" sort="Hinney, A" uniqKey="Hinney A" first="A" last="Hinney">A. Hinney</name></author><author><name sortKey="Ziegler, A" sort="Ziegler, A" uniqKey="Ziegler A" first="A" last="Ziegler">A. Ziegler</name></author><author><name sortKey="Rosenkranz, K" sort="Rosenkranz, K" uniqKey="Rosenkranz K" first="K" last="Rosenkranz">K. Rosenkranz</name></author><author><name sortKey="Wurmser, H" sort="Wurmser, H" uniqKey="Wurmser H" first="H" last="Wurmser">H. Wurmser</name></author><author><name sortKey="Barth, N" sort="Barth, N" uniqKey="Barth N" first="N" last="Barth">N. Barth</name></author><author><name sortKey="Jacob, K" sort="Jacob, K" uniqKey="Jacob K" first="K" last="Jacob">K. Jacob</name></author><author><name sortKey="Coners, H" sort="Coners, H" uniqKey="Coners H" first="H" last="Coners">H. Coners</name></author><author><name sortKey="Mayer, H" sort="Mayer, H" uniqKey="Mayer H" first="H" last="Mayer">H. Mayer</name></author><author><name sortKey="Grzeschik, K H" sort="Grzeschik, K H" uniqKey="Grzeschik K" first="K H" last="Grzeschik">K H Grzeschik</name></author><author><name sortKey="Sch Fer, H" sort="Sch Fer, H" uniqKey="Sch Fer H" first="H" last="Sch Fer">H. Sch Fer</name></author><author><name sortKey="Remschmidt, H" sort="Remschmidt, H" uniqKey="Remschmidt H" first="H" last="Remschmidt">H. Remschmidt</name></author><author><name sortKey="Pirke, K M" sort="Pirke, K M" uniqKey="Pirke K" first="K M" last="Pirke">K M Pirke</name></author><author><name sortKey="Hebebrand, J" sort="Hebebrand, J" uniqKey="Hebebrand J" first="J" last="Hebebrand">J. Hebebrand</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="1997">1997</date><idno type="RBID">pubmed:9200673</idno><idno type="pmid">9200673</idno><idno type="wicri:Area/PubMed/Corpus">000946</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">000946</idno><idno type="wicri:Area/PubMed/Curation">000946</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Curation">000946</idno><idno type="wicri:Area/PubMed/Checkpoint">000946</idno><idno type="wicri:explorRef" wicri:stream="Checkpoint" wicri:step="PubMed">000946</idno><idno type="wicri:Area/Ncbi/Merge">000B42</idno><idno type="wicri:Area/Ncbi/Curation">000B42</idno><idno type="wicri:Area/Ncbi/Checkpoint">000B42</idno><idno type="wicri:doubleKey">0024-3205:1997:Lentes K:evaluation:of:a</idno><idno type="wicri:Area/Main/Merge">002849</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Evaluation of a Cys23Ser mutation within the human 5-HT2C receptor gene: no evidence for an association of the mutant allele with obesity or underweight in children, adolescents and young adults.</title><author><name sortKey="Lentes, K U" sort="Lentes, K U" uniqKey="Lentes K" first="K U" last="Lentes">K U Lentes</name><affiliation wicri:level="4"><nlm:affiliation>Center for Psychobiological and Psychosomatic Research, University of Trier.</nlm:affiliation><country>Allemagne</country><placeName><settlement type="city">Trèves (Allemagne)</settlement><region type="land" nuts="1">Rhénanie-Palatinat</region></placeName><orgName type="university">Université de Trèves</orgName></affiliation></author><author><name sortKey="Hinney, A" sort="Hinney, A" uniqKey="Hinney A" first="A" last="Hinney">A. Hinney</name></author><author><name sortKey="Ziegler, A" sort="Ziegler, A" uniqKey="Ziegler A" first="A" last="Ziegler">A. Ziegler</name></author><author><name sortKey="Rosenkranz, K" sort="Rosenkranz, K" uniqKey="Rosenkranz K" first="K" last="Rosenkranz">K. Rosenkranz</name></author><author><name sortKey="Wurmser, H" sort="Wurmser, H" uniqKey="Wurmser H" first="H" last="Wurmser">H. Wurmser</name></author><author><name sortKey="Barth, N" sort="Barth, N" uniqKey="Barth N" first="N" last="Barth">N. Barth</name></author><author><name sortKey="Jacob, K" sort="Jacob, K" uniqKey="Jacob K" first="K" last="Jacob">K. Jacob</name></author><author><name sortKey="Coners, H" sort="Coners, H" uniqKey="Coners H" first="H" last="Coners">H. Coners</name></author><author><name sortKey="Mayer, H" sort="Mayer, H" uniqKey="Mayer H" first="H" last="Mayer">H. Mayer</name></author><author><name sortKey="Grzeschik, K H" sort="Grzeschik, K H" uniqKey="Grzeschik K" first="K H" last="Grzeschik">K H Grzeschik</name></author><author><name sortKey="Sch Fer, H" sort="Sch Fer, H" uniqKey="Sch Fer H" first="H" last="Sch Fer">H. Sch Fer</name></author><author><name sortKey="Remschmidt, H" sort="Remschmidt, H" uniqKey="Remschmidt H" first="H" last="Remschmidt">H. Remschmidt</name></author><author><name sortKey="Pirke, K M" sort="Pirke, K M" uniqKey="Pirke K" first="K M" last="Pirke">K M Pirke</name></author><author><name sortKey="Hebebrand, J" sort="Hebebrand, J" uniqKey="Hebebrand J" first="J" last="Hebebrand">J. Hebebrand</name></author></analytic><series><title level="j">Life sciences</title><idno type="ISSN">0024-3205</idno><imprint><date when="1997" type="published">1997</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adolescent</term><term>Adult</term><term>Alleles</term><term>Body Weight (physiology)</term><term>Child</term><term>Female</term><term>Humans</term><term>Male</term><term>Mutation (genetics)</term><term>Obesity (genetics)</term><term>Receptors, Serotonin (genetics)</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Receptors, Serotonin</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Mutation</term><term>Obesity</term></keywords><keywords scheme="MESH" qualifier="physiology" xml:lang="en"><term>Body Weight</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adolescent</term><term>Adult</term><term>Alleles</term><term>Child</term><term>Female</term><term>Humans</term><term>Male</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Serotonin is a neurotransmitter involved in a large number of psychophysiological processes including the regulation of mood, arousal, aggression, sleep, learning, nociceptions, nerve growth and importantly, appetitive functions. Alterations of 5-HT receptor activity have been shown to occur in many psychiatric diseases including depression, anxiety, eating disorders, schizophrenia etc. Hence, genetic variation in genes coding for serotonin receptor proteins might well be involved in the genetic predisposition to these diseases and therefore are of great pharmacogenetic relevance. Knockout mice deficient of a functional 5-HT2C receptor have implicated a potential role of this receptor subtype in the serotonergic control of appetite. A Cys23Ser mutation in the human 5-HT2C receptor gene discovered recently prompted us to investigate this mutation with regard to the development of human obesity. We have evaluated this mutation in 241 obese children and adolescents (mean BMI > or = 97th percentile), 80 normal weight children (BMI 5th-85th percentile) and 92 underweight probands (BMI < or = 15th percentile) for a possible association with obesity. The frequencies of the mutant allele in all three weight groups (obese subjects: 0.1597; normal weight: 0.168; underweight: 0.1575) were very similar. Association as well as linkage studies were negative. Therefore it is unlikely that this receptor mutation plays a direct role in the development of human obesity.</div></front></TEI></PubMed></double></record>Pour manipuler ce document sous Unix (Dilib)
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