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

Author(s)

Ottoni de Carvalho, Thiago Bittencourt ^{[1, 2]} ; Suman, Marcela ^{[1, 2]} ; Molina, Fernando Drimel ^{[1, 2]} ; Piatto, Vania Belintani ^{[3, 4]} ; Maniglia, Jose Victor ^{[1, 2]}

Affiliation

^[1] Sao Jose do Rio Preto Med Sch FAMERP, Dept Otorhinolaryngol, BR-15090000 Sao Paulo - Brazil

^[2] Sao Jose do Rio Preto Med Sch FAMERP, Sleep Disorder Out Clin, BR-15090000 Sao Paulo - Brazil

^[3] Sao Jose do Rio Preto Med Sch FAMERP, Dept Morphol, BR-15090000 Sao Paulo - Brazil

^[4] Fac Med Sao Jose do Rio Preto FAMERP, Lab Macroscopia, BR-15090000 Sao Paulo - Brazil

• Document type: Journal article
• Source: Sleep and Breathing; v. 17, n. 1, p. 57-62, MAR 2013.
• Web of Science Citations: 10

Abstract

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). 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. A cross-sectional study performed at the Otorhinolaryngology and Sleep Disorder Out Clinics, So Jos, 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. 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). 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. (AU)

• FAPESP's process: 08/01070-4 - Identification of polymorphisms in HTR2A gene related to obstructive sleep apnea syndrome
• Grantee: Vânia Belintani Piatto
• Support Opportunities: Regular Research Grants