Abstract | INTRODUCTION: METHODS: Three hundred ninety-three patients older than 18years, of Caucasian origin and with OSAS (AHI>5/h and daytime sleepiness) were investigated by cardiorespiratory polysomnography. In addition 58 control subjects with healthy sleep were recruited from nearly 300 volunteers. We analysed the EDNRA-polymorphisms E335E, H323H, G-231A and G+70C by polymerase-chain-reaction, restriction-fragment-length-polymorphism and real-time-PCR. RESULTS: Carrier of the mutant G-231A allele had a significantly lower AHI (p=0.03, OR 0.53, 95% CI 0.3-0.94) when comparing patients and controls. When comparing OSAS severity groups without controls we could not detect significant correlations for the four investigated EDNRA-polymorphisms. Our data confirm that BMI (p<0.001) and male gender (p=0.02) are significantly associated with AHI. The allele frequencies were similar. DISCUSSION: The genetic investigation of OSA remains important. Our control group was relatively small and we investigated 4 reasonable candidates out of more than 100 EDNRA-polymorphisms. The detected protective effect of the mutant G-231A allele needs further confirmation. Gene based research in OSAS should use genome wide scan and should still consider the endothelin system.
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Authors | Dana Buck, Konstanze Diefenbach, Thomas Penzel, Uwe Malzahn, Ivar Roots, Ingo Fietze |
Journal | Sleep medicine
(Sleep Med)
Vol. 11
Issue 2
Pg. 213-7
(Feb 2010)
ISSN: 1878-5506 [Electronic] Netherlands |
PMID | 20083432
(Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
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Copyright | 2009 Elsevier B.V. All rights reserved. |
Chemical References |
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Topics |
- Chi-Square Distribution
- Female
- Gene Frequency
(genetics)
- Genes
(genetics)
- Genetic Predisposition to Disease
(genetics)
- Genotype
- Humans
- Male
- Middle Aged
- Polymorphism, Single Nucleotide
(genetics)
- Receptor, Endothelin A
(genetics)
- Regression Analysis
- Sleep Apnea, Obstructive
(genetics)
- Statistics, Nonparametric
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