Polymorphisms of the 5-hydroxytryptamine 2A/2C receptor genes and 5-hydroxytryptamine transporter gene in Chinese patients with OSAHS
Background It is known that there is a genetic predisposition to OSAHS. Polymorphisms of the 5-hydroxytryptamine (5-HT) 2A/2C receptors (5-HTR 2A/2C) genes and 5-HT transporter (5-HTT) gene may be associated with the pathogenesis of obstructive sleep apnea–hypopnea syndrome (OSAHS). Objectives In th...
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| Veröffentlicht in: | Sleep & breathing 2013-12, Vol.17 (4), p.1241-1248 |
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| creator | Chen, Hongbin Hu, Ke Zhu, Jianyong Xianyu, Yunyan Cao, Xia Kang, Jing He, Jingya Zhao, Pengzhan Mei, Yongtian |
| description | Background
It is known that there is a genetic predisposition to OSAHS. Polymorphisms of the 5-hydroxytryptamine (5-HT) 2A/2C receptors (5-HTR 2A/2C) genes and 5-HT transporter (5-HTT) gene may be associated with the pathogenesis of obstructive sleep apnea–hypopnea syndrome (OSAHS).
Objectives
In this study, we aimed to investigate the prevalence of polymorphisms of the 5-HTR 2A/2C genes and the 5-HTT gene in the Chinese Han OSAHS population.
Methods
A total of 226 unrelated subjects of the Chinese Han population, including 121 OSAHS patients and 105 healthy controls, were involved in the study. The A1438G and T102C polymorphisms of the 5-HTR 2A gene, G796C polymorphisms of the 5-HTR 2C gene, and two polymorphisms (gene-linked polymorphic region [LPR] and variable number tandem repeat [VNTR]) of the 5-HTT gene were identified by polymerase chain reaction (PCR)-RFLP.
Results
Compared with the control group, the OSAHS group had significantly higher AA genotype and A allele frequencies in the A1438G polymorphisms of the 5-HTR 2A gene, and had significantly higher frequencies of 10/10, 12/10 genotypes and the allele 10 of 5-HTT-VNTR. There were no significant differences between the genotype distribution and allele frequencies of the OSAHS group and the control group regarding the T102C polymorphisms of the 5-HTR 2A gene and the G796C polymorphisms of the 5-HTR 2C gene, the frequencies of the S or L allele and the S/S, S/L or L/L genotypes in 5-HTT-LPR.
Conclusions
The A1438G polymorphism of the 5-HTR 2A gene might be involved in the pathogenesis in OSAHS subjects of the Chinese Han population. Meanwhile, our findings support the argument that 5-HTT polymorphism appears to be associated with susceptibility to OSAHS, because the allele 10 of 5-HTT-VNTR might be a susceptible factor. |
| doi_str_mv | 10.1007/s11325-013-0829-0 |
| format | Article |
| fullrecord | <record><control><sourceid>proquest_cross</sourceid><recordid>TN_cdi_proquest_miscellaneous_1450200884</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>1450200884</sourcerecordid><originalsourceid>FETCH-LOGICAL-c402t-b39967dfbecceb707583913c02e1222d09e256f288bf0ac157d6e18516d283283</originalsourceid><addsrcrecordid>eNp10d2K1TAQB_AiiruuPoA3EhDBm7iTadMml4eDusLCCqvXJU2n2y5tU5Mc1j6A723WHj8QhUAC85tJyD_Lngt4IwCq8yBEjpKDyDko1BweZKdCInJRgX744wxcS4En2ZMQbgFEobR4nJ1gXuiilMVp9u2jG9fJ-aUfwhSY61jsiUner613X9fo1yWaaZiJ4e4c98yTpSU6z25opsDM3P4TR2_msDgfaZNsmNm-T5VAbDFxoDkGdjfEnl1d7y6un2aPOjMGenbcz7LP795-2l_wy6v3H_a7S24LwMibXOuyaruGrKWmgkqqXIvcApJAxBY0oSw7VKrpwFghq7YkoaQoW1R5WmfZ623u4t2XA4VYT0OwNI5mJncItSgkIIBSRaIv_6K37uDn9Lqk0u8VqizypMSmrHcheOrqxQ-T8WstoL7PqN4yqlNG9X1GNaSeF8fJh2ai9lfHz1ASeHUEJlgzdukv7RB-u0qXiJVMDjcXUmm-If_HE_97-3eklKlA</addsrcrecordid><sourcetype>Aggregation Database</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>1449448643</pqid></control><display><type>article</type><title>Polymorphisms of the 5-hydroxytryptamine 2A/2C receptor genes and 5-hydroxytryptamine transporter gene in Chinese patients with OSAHS</title><source>MEDLINE</source><source>SpringerLink Journals</source><creator>Chen, Hongbin ; Hu, Ke ; Zhu, Jianyong ; Xianyu, Yunyan ; Cao, Xia ; Kang, Jing ; He, Jingya ; Zhao, Pengzhan ; Mei, Yongtian</creator><creatorcontrib>Chen, Hongbin ; Hu, Ke ; Zhu, Jianyong ; Xianyu, Yunyan ; Cao, Xia ; Kang, Jing ; He, Jingya ; Zhao, Pengzhan ; Mei, Yongtian</creatorcontrib><description>Background
It is known that there is a genetic predisposition to OSAHS. Polymorphisms of the 5-hydroxytryptamine (5-HT) 2A/2C receptors (5-HTR 2A/2C) genes and 5-HT transporter (5-HTT) gene may be associated with the pathogenesis of obstructive sleep apnea–hypopnea syndrome (OSAHS).
Objectives
In this study, we aimed to investigate the prevalence of polymorphisms of the 5-HTR 2A/2C genes and the 5-HTT gene in the Chinese Han OSAHS population.
Methods
A total of 226 unrelated subjects of the Chinese Han population, including 121 OSAHS patients and 105 healthy controls, were involved in the study. The A1438G and T102C polymorphisms of the 5-HTR 2A gene, G796C polymorphisms of the 5-HTR 2C gene, and two polymorphisms (gene-linked polymorphic region [LPR] and variable number tandem repeat [VNTR]) of the 5-HTT gene were identified by polymerase chain reaction (PCR)-RFLP.
Results
Compared with the control group, the OSAHS group had significantly higher AA genotype and A allele frequencies in the A1438G polymorphisms of the 5-HTR 2A gene, and had significantly higher frequencies of 10/10, 12/10 genotypes and the allele 10 of 5-HTT-VNTR. There were no significant differences between the genotype distribution and allele frequencies of the OSAHS group and the control group regarding the T102C polymorphisms of the 5-HTR 2A gene and the G796C polymorphisms of the 5-HTR 2C gene, the frequencies of the S or L allele and the S/S, S/L or L/L genotypes in 5-HTT-LPR.
Conclusions
The A1438G polymorphism of the 5-HTR 2A gene might be involved in the pathogenesis in OSAHS subjects of the Chinese Han population. Meanwhile, our findings support the argument that 5-HTT polymorphism appears to be associated with susceptibility to OSAHS, because the allele 10 of 5-HTT-VNTR might be a susceptible factor.</description><identifier>ISSN: 1520-9512</identifier><identifier>EISSN: 1522-1709</identifier><identifier>DOI: 10.1007/s11325-013-0829-0</identifier><identifier>PMID: 23494654</identifier><language>eng</language><publisher>Berlin/Heidelberg: Springer Berlin Heidelberg</publisher><subject>Adult ; Alleles ; Asian Continental Ancestry Group - genetics ; Biological and medical sciences ; China ; Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases ; Dentistry ; Disorders of higher nervous function. Focal brain diseases. Central vestibular syndrome and deafness. Brain stem syndromes ; Female ; Fundamental and applied biological sciences. Psychology ; Genetic Predisposition to Disease - genetics ; Genotype ; Genotype & phenotype ; Humans ; Internal Medicine ; Male ; Medical sciences ; Medicine ; Medicine & Public Health ; Middle Aged ; Minisatellite Repeats - genetics ; Nervous system (semeiology, syndromes) ; Neurology ; Original Article ; Otorhinolaryngology ; Pediatrics ; Pneumology ; Pneumology/Respiratory System ; Polymerase Chain Reaction ; Polymorphism ; Polymorphism, Genetic - genetics ; Polymorphism, Restriction Fragment Length - genetics ; Population genetics ; Receptor, Serotonin, 5-HT2A - genetics ; Receptor, Serotonin, 5-HT2C - genetics ; Respiratory system : syndromes and miscellaneous diseases ; Serotonin Plasma Membrane Transport Proteins - genetics ; Sleep apnea ; Sleep Apnea, Obstructive - genetics ; Sleep. Vigilance ; Vertebrates: nervous system and sense organs</subject><ispartof>Sleep & breathing, 2013-12, Vol.17 (4), p.1241-1248</ispartof><rights>Springer-Verlag Berlin Heidelberg 2013</rights><rights>2015 INIST-CNRS</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c402t-b39967dfbecceb707583913c02e1222d09e256f288bf0ac157d6e18516d283283</citedby><cites>FETCH-LOGICAL-c402t-b39967dfbecceb707583913c02e1222d09e256f288bf0ac157d6e18516d283283</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://link.springer.com/content/pdf/10.1007/s11325-013-0829-0$$EPDF$$P50$$Gspringer$$H</linktopdf><linktohtml>$$Uhttps://link.springer.com/10.1007/s11325-013-0829-0$$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=27962275$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/23494654$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Chen, Hongbin</creatorcontrib><creatorcontrib>Hu, Ke</creatorcontrib><creatorcontrib>Zhu, Jianyong</creatorcontrib><creatorcontrib>Xianyu, Yunyan</creatorcontrib><creatorcontrib>Cao, Xia</creatorcontrib><creatorcontrib>Kang, Jing</creatorcontrib><creatorcontrib>He, Jingya</creatorcontrib><creatorcontrib>Zhao, Pengzhan</creatorcontrib><creatorcontrib>Mei, Yongtian</creatorcontrib><title>Polymorphisms of the 5-hydroxytryptamine 2A/2C receptor genes and 5-hydroxytryptamine transporter gene in Chinese patients with OSAHS</title><title>Sleep & breathing</title><addtitle>Sleep Breath</addtitle><addtitle>Sleep Breath</addtitle><description>Background
It is known that there is a genetic predisposition to OSAHS. Polymorphisms of the 5-hydroxytryptamine (5-HT) 2A/2C receptors (5-HTR 2A/2C) genes and 5-HT transporter (5-HTT) gene may be associated with the pathogenesis of obstructive sleep apnea–hypopnea syndrome (OSAHS).
Objectives
In this study, we aimed to investigate the prevalence of polymorphisms of the 5-HTR 2A/2C genes and the 5-HTT gene in the Chinese Han OSAHS population.
Methods
A total of 226 unrelated subjects of the Chinese Han population, including 121 OSAHS patients and 105 healthy controls, were involved in the study. The A1438G and T102C polymorphisms of the 5-HTR 2A gene, G796C polymorphisms of the 5-HTR 2C gene, and two polymorphisms (gene-linked polymorphic region [LPR] and variable number tandem repeat [VNTR]) of the 5-HTT gene were identified by polymerase chain reaction (PCR)-RFLP.
Results
Compared with the control group, the OSAHS group had significantly higher AA genotype and A allele frequencies in the A1438G polymorphisms of the 5-HTR 2A gene, and had significantly higher frequencies of 10/10, 12/10 genotypes and the allele 10 of 5-HTT-VNTR. There were no significant differences between the genotype distribution and allele frequencies of the OSAHS group and the control group regarding the T102C polymorphisms of the 5-HTR 2A gene and the G796C polymorphisms of the 5-HTR 2C gene, the frequencies of the S or L allele and the S/S, S/L or L/L genotypes in 5-HTT-LPR.
Conclusions
The A1438G polymorphism of the 5-HTR 2A gene might be involved in the pathogenesis in OSAHS subjects of the Chinese Han population. Meanwhile, our findings support the argument that 5-HTT polymorphism appears to be associated with susceptibility to OSAHS, because the allele 10 of 5-HTT-VNTR might be a susceptible factor.</description><subject>Adult</subject><subject>Alleles</subject><subject>Asian Continental Ancestry Group - genetics</subject><subject>Biological and medical sciences</subject><subject>China</subject><subject>Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases</subject><subject>Dentistry</subject><subject>Disorders of higher nervous function. Focal brain diseases. Central vestibular syndrome and deafness. Brain stem syndromes</subject><subject>Female</subject><subject>Fundamental and applied biological sciences. Psychology</subject><subject>Genetic Predisposition to Disease - genetics</subject><subject>Genotype</subject><subject>Genotype & phenotype</subject><subject>Humans</subject><subject>Internal Medicine</subject><subject>Male</subject><subject>Medical sciences</subject><subject>Medicine</subject><subject>Medicine & Public Health</subject><subject>Middle Aged</subject><subject>Minisatellite Repeats - genetics</subject><subject>Nervous system (semeiology, syndromes)</subject><subject>Neurology</subject><subject>Original Article</subject><subject>Otorhinolaryngology</subject><subject>Pediatrics</subject><subject>Pneumology</subject><subject>Pneumology/Respiratory System</subject><subject>Polymerase Chain Reaction</subject><subject>Polymorphism</subject><subject>Polymorphism, Genetic - genetics</subject><subject>Polymorphism, Restriction Fragment Length - genetics</subject><subject>Population genetics</subject><subject>Receptor, Serotonin, 5-HT2A - genetics</subject><subject>Receptor, Serotonin, 5-HT2C - genetics</subject><subject>Respiratory system : syndromes and miscellaneous diseases</subject><subject>Serotonin Plasma Membrane Transport Proteins - genetics</subject><subject>Sleep apnea</subject><subject>Sleep Apnea, Obstructive - genetics</subject><subject>Sleep. Vigilance</subject><subject>Vertebrates: nervous system and sense organs</subject><issn>1520-9512</issn><issn>1522-1709</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2013</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>BENPR</sourceid><recordid>eNp10d2K1TAQB_AiiruuPoA3EhDBm7iTadMml4eDusLCCqvXJU2n2y5tU5Mc1j6A723WHj8QhUAC85tJyD_Lngt4IwCq8yBEjpKDyDko1BweZKdCInJRgX744wxcS4En2ZMQbgFEobR4nJ1gXuiilMVp9u2jG9fJ-aUfwhSY61jsiUner613X9fo1yWaaZiJ4e4c98yTpSU6z25opsDM3P4TR2_msDgfaZNsmNm-T5VAbDFxoDkGdjfEnl1d7y6un2aPOjMGenbcz7LP795-2l_wy6v3H_a7S24LwMibXOuyaruGrKWmgkqqXIvcApJAxBY0oSw7VKrpwFghq7YkoaQoW1R5WmfZ623u4t2XA4VYT0OwNI5mJncItSgkIIBSRaIv_6K37uDn9Lqk0u8VqizypMSmrHcheOrqxQ-T8WstoL7PqN4yqlNG9X1GNaSeF8fJh2ai9lfHz1ASeHUEJlgzdukv7RB-u0qXiJVMDjcXUmm-If_HE_97-3eklKlA</recordid><startdate>20131201</startdate><enddate>20131201</enddate><creator>Chen, Hongbin</creator><creator>Hu, Ke</creator><creator>Zhu, Jianyong</creator><creator>Xianyu, Yunyan</creator><creator>Cao, Xia</creator><creator>Kang, Jing</creator><creator>He, Jingya</creator><creator>Zhao, Pengzhan</creator><creator>Mei, Yongtian</creator><general>Springer Berlin Heidelberg</general><general>Springer</general><general>Springer Nature B.V</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>0-V</scope><scope>3V.</scope><scope>7T5</scope><scope>7TK</scope><scope>7X7</scope><scope>7XB</scope><scope>88E</scope><scope>88G</scope><scope>88J</scope><scope>8AO</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>ALSLI</scope><scope>AZQEC</scope><scope>BENPR</scope><scope>CCPQU</scope><scope>DWQXO</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>GNUQQ</scope><scope>H94</scope><scope>K9.</scope><scope>M0S</scope><scope>M1P</scope><scope>M2M</scope><scope>M2R</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>PSYQQ</scope><scope>Q9U</scope><scope>7X8</scope></search><sort><creationdate>20131201</creationdate><title>Polymorphisms of the 5-hydroxytryptamine 2A/2C receptor genes and 5-hydroxytryptamine transporter gene in Chinese patients with OSAHS</title><author>Chen, Hongbin ; Hu, Ke ; Zhu, Jianyong ; Xianyu, Yunyan ; Cao, Xia ; Kang, Jing ; He, Jingya ; Zhao, Pengzhan ; Mei, Yongtian</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c402t-b39967dfbecceb707583913c02e1222d09e256f288bf0ac157d6e18516d283283</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2013</creationdate><topic>Adult</topic><topic>Alleles</topic><topic>Asian Continental Ancestry Group - genetics</topic><topic>Biological and medical sciences</topic><topic>China</topic><topic>Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases</topic><topic>Dentistry</topic><topic>Disorders of higher nervous function. Focal brain diseases. Central vestibular syndrome and deafness. Brain stem syndromes</topic><topic>Female</topic><topic>Fundamental and applied biological sciences. Psychology</topic><topic>Genetic Predisposition to Disease - genetics</topic><topic>Genotype</topic><topic>Genotype & phenotype</topic><topic>Humans</topic><topic>Internal Medicine</topic><topic>Male</topic><topic>Medical sciences</topic><topic>Medicine</topic><topic>Medicine & Public Health</topic><topic>Middle Aged</topic><topic>Minisatellite Repeats - genetics</topic><topic>Nervous system (semeiology, syndromes)</topic><topic>Neurology</topic><topic>Original Article</topic><topic>Otorhinolaryngology</topic><topic>Pediatrics</topic><topic>Pneumology</topic><topic>Pneumology/Respiratory System</topic><topic>Polymerase Chain Reaction</topic><topic>Polymorphism</topic><topic>Polymorphism, Genetic - genetics</topic><topic>Polymorphism, Restriction Fragment Length - genetics</topic><topic>Population genetics</topic><topic>Receptor, Serotonin, 5-HT2A - genetics</topic><topic>Receptor, Serotonin, 5-HT2C - genetics</topic><topic>Respiratory system : syndromes and miscellaneous diseases</topic><topic>Serotonin Plasma Membrane Transport Proteins - genetics</topic><topic>Sleep apnea</topic><topic>Sleep Apnea, Obstructive - genetics</topic><topic>Sleep. Vigilance</topic><topic>Vertebrates: nervous system and sense organs</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Chen, Hongbin</creatorcontrib><creatorcontrib>Hu, Ke</creatorcontrib><creatorcontrib>Zhu, Jianyong</creatorcontrib><creatorcontrib>Xianyu, Yunyan</creatorcontrib><creatorcontrib>Cao, Xia</creatorcontrib><creatorcontrib>Kang, Jing</creatorcontrib><creatorcontrib>He, Jingya</creatorcontrib><creatorcontrib>Zhao, Pengzhan</creatorcontrib><creatorcontrib>Mei, Yongtian</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 Social Sciences Premium Collection</collection><collection>ProQuest Central (Corporate)</collection><collection>Immunology Abstracts</collection><collection>Neurosciences Abstracts</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>Social Science Database (Alumni Edition)</collection><collection>ProQuest Pharma 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 Central UK/Ireland</collection><collection>Social Science Premium Collection</collection><collection>ProQuest Central Essentials</collection><collection>ProQuest Central</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>AIDS and Cancer Research Abstracts</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>Medical Database</collection><collection>ProQuest Psychology</collection><collection>Social 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 Central China</collection><collection>ProQuest One Psychology</collection><collection>ProQuest Central Basic</collection><collection>MEDLINE - Academic</collection><jtitle>Sleep & breathing</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Chen, Hongbin</au><au>Hu, Ke</au><au>Zhu, Jianyong</au><au>Xianyu, Yunyan</au><au>Cao, Xia</au><au>Kang, Jing</au><au>He, Jingya</au><au>Zhao, Pengzhan</au><au>Mei, Yongtian</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Polymorphisms of the 5-hydroxytryptamine 2A/2C receptor genes and 5-hydroxytryptamine transporter gene in Chinese patients with OSAHS</atitle><jtitle>Sleep & breathing</jtitle><stitle>Sleep Breath</stitle><addtitle>Sleep Breath</addtitle><date>2013-12-01</date><risdate>2013</risdate><volume>17</volume><issue>4</issue><spage>1241</spage><epage>1248</epage><pages>1241-1248</pages><issn>1520-9512</issn><eissn>1522-1709</eissn><abstract>Background
It is known that there is a genetic predisposition to OSAHS. Polymorphisms of the 5-hydroxytryptamine (5-HT) 2A/2C receptors (5-HTR 2A/2C) genes and 5-HT transporter (5-HTT) gene may be associated with the pathogenesis of obstructive sleep apnea–hypopnea syndrome (OSAHS).
Objectives
In this study, we aimed to investigate the prevalence of polymorphisms of the 5-HTR 2A/2C genes and the 5-HTT gene in the Chinese Han OSAHS population.
Methods
A total of 226 unrelated subjects of the Chinese Han population, including 121 OSAHS patients and 105 healthy controls, were involved in the study. The A1438G and T102C polymorphisms of the 5-HTR 2A gene, G796C polymorphisms of the 5-HTR 2C gene, and two polymorphisms (gene-linked polymorphic region [LPR] and variable number tandem repeat [VNTR]) of the 5-HTT gene were identified by polymerase chain reaction (PCR)-RFLP.
Results
Compared with the control group, the OSAHS group had significantly higher AA genotype and A allele frequencies in the A1438G polymorphisms of the 5-HTR 2A gene, and had significantly higher frequencies of 10/10, 12/10 genotypes and the allele 10 of 5-HTT-VNTR. There were no significant differences between the genotype distribution and allele frequencies of the OSAHS group and the control group regarding the T102C polymorphisms of the 5-HTR 2A gene and the G796C polymorphisms of the 5-HTR 2C gene, the frequencies of the S or L allele and the S/S, S/L or L/L genotypes in 5-HTT-LPR.
Conclusions
The A1438G polymorphism of the 5-HTR 2A gene might be involved in the pathogenesis in OSAHS subjects of the Chinese Han population. Meanwhile, our findings support the argument that 5-HTT polymorphism appears to be associated with susceptibility to OSAHS, because the allele 10 of 5-HTT-VNTR might be a susceptible factor.</abstract><cop>Berlin/Heidelberg</cop><pub>Springer Berlin Heidelberg</pub><pmid>23494654</pmid><doi>10.1007/s11325-013-0829-0</doi><tpages>8</tpages></addata></record> |
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| subjects | Adult Alleles Asian Continental Ancestry Group - genetics Biological and medical sciences China Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases Dentistry Disorders of higher nervous function. Focal brain diseases. Central vestibular syndrome and deafness. Brain stem syndromes Female Fundamental and applied biological sciences. Psychology Genetic Predisposition to Disease - genetics Genotype Genotype & phenotype Humans Internal Medicine Male Medical sciences Medicine Medicine & Public Health Middle Aged Minisatellite Repeats - genetics Nervous system (semeiology, syndromes) Neurology Original Article Otorhinolaryngology Pediatrics Pneumology Pneumology/Respiratory System Polymerase Chain Reaction Polymorphism Polymorphism, Genetic - genetics Polymorphism, Restriction Fragment Length - genetics Population genetics Receptor, Serotonin, 5-HT2A - genetics Receptor, Serotonin, 5-HT2C - genetics Respiratory system : syndromes and miscellaneous diseases Serotonin Plasma Membrane Transport Proteins - genetics Sleep apnea Sleep Apnea, Obstructive - genetics Sleep. Vigilance Vertebrates: nervous system and sense organs |
| title | Polymorphisms of the 5-hydroxytryptamine 2A/2C receptor genes and 5-hydroxytryptamine transporter gene in Chinese patients with OSAHS |
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