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Relationship of obstructive sleep apnea syndrome with the 5-HT2A receptor gene in Brazilian patients

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Abstract

Background

Serotonin (5-HT) regulates a variety of visceral and physiological functions, including sleep. Polymorphisms in the 5-HT2A receptor gene can alter its transcription, affecting the number of receptors in the serotoninergic system, contributing to obstructive sleep apnea syndrome (OSAS).

Objective

The aim of this study was to determine the prevalence of the 102T-C and -1438G-A polymorphisms in the 5-HTR2A gene in Brazilian patients with and without OSAS.

Subjects and methods

A cross-sectional study performed at the Otorhinolaryngology and Sleep Disorder Out Clinics, São José do Rio Preto Medical School, FAMERP. One hundred patients were examined as index cases and 100 persons as controls, of both genders to both groups. DNA was extracted from peripheral blood leukocytes, and the sites that encompassed both polymorphisms were amplified by PCR-RFLP.

Results

There was a significant prevalence of the male gender in index cases compared with the control group gender (p < 0.0001). There was no significant genotypic difference in the 102T-C polymorphism between the case and control groups (p = 1.000). The AA genotype of the -1438G-A polymorphism was more prevalent in the patients with OSAS compared with the controls (OR, 2.3; CI 95% 1.20–4.38; p = 0.01).

Conclusions

There was no difference in the prevalence of the 102T-C polymorphism between patients with OSAS and the control group. Serotoninergic system dysfunction appeared to be related to OSAS. The -1438G-A polymorphism and OSAS are related in this studied Brazilian population.

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Acknowledgments

We thank the patients who gave their consent for enrollment in this study; without their cooperation, this study would not have been possible. Their contribution has been extremely important in improving Brazilian research.

We would like to thank the FAPESP FOUNDATION for their financial support (#2008/01070-4).

Conflicts of interest

The authors declare that they have no conflict of interest.

Author information

Authors and Affiliations

  1. Department of Otorhinolaryngology and Sleep Disorder Out Clinics, São José do Rio Preto Medical School (FAMERP), Av. Brigadeiro Faria Lima, 5416, Vila São Pedro, São José do Rio Preto, São Paulo, 15090-000, Brazil

    Thiago Bittencourt Ottoni de Carvalho, Marcela Suman, Fernando Drimel Molina & José Victor Maniglia

  2. Department of Morphology, São José do Rio Preto Medical School (FAMERP), Av. Brigadeiro Faria Lima, 5416, Vila São Pedro, São José do Rio Preto, São Paulo, 15090-000, Brazil

    Vânia Belintani Piatto

  3. Faculdade de Medicina de São José do Rio Preto (FAMERP), Pavilhão Mário Covas, 2º Andar, Laboratório de Macroscopia, Av. Brigadeiro Faria Lima, 5416, Vila São Pedro, São José do Rio Preto, São Paulo, CEP-15090-000, Brazil

    Vânia Belintani Piatto

Authors
  1. Thiago Bittencourt Ottoni de Carvalho
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  2. Marcela Suman
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  3. Fernando Drimel Molina
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  4. Vânia Belintani Piatto
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  5. José Victor Maniglia
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Corresponding author

Correspondence to Vânia Belintani Piatto.

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de Carvalho, T.B.O., Suman, M., Molina, F.D. et al. Relationship of obstructive sleep apnea syndrome with the 5-HT2A receptor gene in Brazilian patients. Sleep Breath 17, 57–62 (2013). https://doi.org/10.1007/s11325-012-0645-y

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  • DOI: https://doi.org/10.1007/s11325-012-0645-y

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