Polymorphisms in the 5-HTR2A gene related to obstructive sleep apnea syndrome
Main Author: | |
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Publication Date: | 2011 |
Other Authors: | , , , |
Format: | Article |
Language: | eng |
Source: | Brazilian Journal of Otorhinolaryngology |
Download full: | http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1808-86942011000300013 |
Summary: | Obstructive sleep apnea syndrome (OSAS) is one of the most complex disorders of sleep; it involves several genetic factors that contribute to the phenotype. Serotonin (5-HT) regulates a variety of visceral and physiological functions, including sleep. Gene 5-HTR2A polymorphisms may change the transcription of several receptors in the serotoninergic system, thereby contributing to OSAS. AIM: To investigate the prevalence of T102C and -1438G/A polymorphisms in the 5-HTR2A gene of patients with and without OSAS . MATERIAL AND METHOD: A molecular study of 100 index-cases and 100 controls of both genders. DNA was extracted from blood leukocytes samples and the regions that enclose both polymorphisms were amplified with PCR-RFLP. STUDY DESIGN: A cross-sectional case study. RESULTS: There was a significant prevalence of males in index cases compared to controls (p<0.0001). No significant genotypic differences between cases and controls were found in T102C polymorphisms (p=1.000).There were significant differences between the AA genotype of -1438G/A polymorphisms and patients with OSAS (OR:2.3; CI95%:1.20-4.38, p=0.01). CONCLUSION: Serotonergic mechanisms may be related to OSAS. There were no differences in the prevalence of T102C polymorphisms in patients with OSAS and the control group. There is evidence of an association between the -1438G /A polymorphism and OSAS. |
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Polymorphisms in the 5-HTR2A gene related to obstructive sleep apnea syndromepolymorphism geneticreceptor serotonin 5-ht2aserotoninsleep apnea obstructiveObstructive sleep apnea syndrome (OSAS) is one of the most complex disorders of sleep; it involves several genetic factors that contribute to the phenotype. Serotonin (5-HT) regulates a variety of visceral and physiological functions, including sleep. Gene 5-HTR2A polymorphisms may change the transcription of several receptors in the serotoninergic system, thereby contributing to OSAS. AIM: To investigate the prevalence of T102C and -1438G/A polymorphisms in the 5-HTR2A gene of patients with and without OSAS . MATERIAL AND METHOD: A molecular study of 100 index-cases and 100 controls of both genders. DNA was extracted from blood leukocytes samples and the regions that enclose both polymorphisms were amplified with PCR-RFLP. STUDY DESIGN: A cross-sectional case study. RESULTS: There was a significant prevalence of males in index cases compared to controls (p<0.0001). No significant genotypic differences between cases and controls were found in T102C polymorphisms (p=1.000).There were significant differences between the AA genotype of -1438G/A polymorphisms and patients with OSAS (OR:2.3; CI95%:1.20-4.38, p=0.01). CONCLUSION: Serotonergic mechanisms may be related to OSAS. There were no differences in the prevalence of T102C polymorphisms in patients with OSAS and the control group. There is evidence of an association between the -1438G /A polymorphism and OSAS.Associação Brasileira de Otorrinolaringologia e Cirurgia Cérvico-Facial.2011-06-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S1808-86942011000300013Brazilian Journal of Otorhinolaryngology v.77 n.3 2011reponame:Brazilian Journal of Otorhinolaryngologyinstname:Associação Brasileira de Otorrinolaringologia e Cirurgia Cérvico-Facial (ABORL-CCF)instacron:ABORL-CCF10.1590/S1808-86942011000300013info:eu-repo/semantics/openAccessPiatto,Vânia BelintaniCarvalho,Thiago Bittencourt Ottoni deDe Marchi,Nely Silva AragãoMolina,Fernando DrimelManiglia,José Victoreng2011-08-30T00:00:00Zoai:scielo:S1808-86942011000300013Revistahttp://www.bjorl.org.br/https://old.scielo.br/oai/scielo-oai.phprevista@aborlccf.org.br||revista@aborlccf.org.br1808-86861808-8686opendoar:2011-08-30T00:00Brazilian Journal of Otorhinolaryngology - Associação Brasileira de Otorrinolaringologia e Cirurgia Cérvico-Facial (ABORL-CCF)false |
dc.title.none.fl_str_mv |
Polymorphisms in the 5-HTR2A gene related to obstructive sleep apnea syndrome |
title |
Polymorphisms in the 5-HTR2A gene related to obstructive sleep apnea syndrome |
spellingShingle |
Polymorphisms in the 5-HTR2A gene related to obstructive sleep apnea syndrome Piatto,Vânia Belintani polymorphism genetic receptor serotonin 5-ht2a serotonin sleep apnea obstructive |
title_short |
Polymorphisms in the 5-HTR2A gene related to obstructive sleep apnea syndrome |
title_full |
Polymorphisms in the 5-HTR2A gene related to obstructive sleep apnea syndrome |
title_fullStr |
Polymorphisms in the 5-HTR2A gene related to obstructive sleep apnea syndrome |
title_full_unstemmed |
Polymorphisms in the 5-HTR2A gene related to obstructive sleep apnea syndrome |
title_sort |
Polymorphisms in the 5-HTR2A gene related to obstructive sleep apnea syndrome |
author |
Piatto,Vânia Belintani |
author_facet |
Piatto,Vânia Belintani Carvalho,Thiago Bittencourt Ottoni de De Marchi,Nely Silva Aragão Molina,Fernando Drimel Maniglia,José Victor |
author_role |
author |
author2 |
Carvalho,Thiago Bittencourt Ottoni de De Marchi,Nely Silva Aragão Molina,Fernando Drimel Maniglia,José Victor |
author2_role |
author author author author |
dc.contributor.author.fl_str_mv |
Piatto,Vânia Belintani Carvalho,Thiago Bittencourt Ottoni de De Marchi,Nely Silva Aragão Molina,Fernando Drimel Maniglia,José Victor |
dc.subject.por.fl_str_mv |
polymorphism genetic receptor serotonin 5-ht2a serotonin sleep apnea obstructive |
topic |
polymorphism genetic receptor serotonin 5-ht2a serotonin sleep apnea obstructive |
description |
Obstructive sleep apnea syndrome (OSAS) is one of the most complex disorders of sleep; it involves several genetic factors that contribute to the phenotype. Serotonin (5-HT) regulates a variety of visceral and physiological functions, including sleep. Gene 5-HTR2A polymorphisms may change the transcription of several receptors in the serotoninergic system, thereby contributing to OSAS. AIM: To investigate the prevalence of T102C and -1438G/A polymorphisms in the 5-HTR2A gene of patients with and without OSAS . MATERIAL AND METHOD: A molecular study of 100 index-cases and 100 controls of both genders. DNA was extracted from blood leukocytes samples and the regions that enclose both polymorphisms were amplified with PCR-RFLP. STUDY DESIGN: A cross-sectional case study. RESULTS: There was a significant prevalence of males in index cases compared to controls (p<0.0001). No significant genotypic differences between cases and controls were found in T102C polymorphisms (p=1.000).There were significant differences between the AA genotype of -1438G/A polymorphisms and patients with OSAS (OR:2.3; CI95%:1.20-4.38, p=0.01). CONCLUSION: Serotonergic mechanisms may be related to OSAS. There were no differences in the prevalence of T102C polymorphisms in patients with OSAS and the control group. There is evidence of an association between the -1438G /A polymorphism and OSAS. |
publishDate |
2011 |
dc.date.none.fl_str_mv |
2011-06-01 |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/article |
dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
format |
article |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1808-86942011000300013 |
url |
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1808-86942011000300013 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
10.1590/S1808-86942011000300013 |
dc.rights.driver.fl_str_mv |
info:eu-repo/semantics/openAccess |
eu_rights_str_mv |
openAccess |
dc.format.none.fl_str_mv |
text/html |
dc.publisher.none.fl_str_mv |
Associação Brasileira de Otorrinolaringologia e Cirurgia Cérvico-Facial. |
publisher.none.fl_str_mv |
Associação Brasileira de Otorrinolaringologia e Cirurgia Cérvico-Facial. |
dc.source.none.fl_str_mv |
Brazilian Journal of Otorhinolaryngology v.77 n.3 2011 reponame:Brazilian Journal of Otorhinolaryngology instname:Associação Brasileira de Otorrinolaringologia e Cirurgia Cérvico-Facial (ABORL-CCF) instacron:ABORL-CCF |
instname_str |
Associação Brasileira de Otorrinolaringologia e Cirurgia Cérvico-Facial (ABORL-CCF) |
instacron_str |
ABORL-CCF |
institution |
ABORL-CCF |
reponame_str |
Brazilian Journal of Otorhinolaryngology |
collection |
Brazilian Journal of Otorhinolaryngology |
repository.name.fl_str_mv |
Brazilian Journal of Otorhinolaryngology - Associação Brasileira de Otorrinolaringologia e Cirurgia Cérvico-Facial (ABORL-CCF) |
repository.mail.fl_str_mv |
revista@aborlccf.org.br||revista@aborlccf.org.br |
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1754575989460959232 |