Association of the -1438G/A polymorphism of the 5-HT2A receptor gene with obstructive sleep apnea syndrome.
OBJECTIVE
Serotonergic neurons innervating motoneurons increase their firing rates in response to respiratory challenges, and long-term facilitation of respiratory activity in response to hypoxia is serotonin (5-HT) dependent. Polymorphism of the genes which code for 5-HT receptors may affect functions of the serotonergic system, and may be associated with obstructive sleep apnea syndrome (OSAS). The objective in this study was to assess the significance of T102C and -1438G/A polymorphisms of the 5-HT2A receptor gene in OSAS.


METHODS
Fifty-five patients with OSAS and 102 healthy volun teers were included for genetic analyses of T102C and -1438G/A polymorphisms of the 5-HT2A receptor gene.


RESULTS
For the T102C polymorphism, there was no significant difference between the patients and controls and both genders (p > 0.05). For the -1438G/A polymorphism, the A/A and G/A genotypes were overrepresented in the patients and controls, respectively (p = 0.045). In the control group, the genotypes of both genders were not significantly different (p > 0.05). In the patients, the A/A and G/A genotypes were overrepresented in males and females, respectively (p = 0.035). Concerning males, the A/A genotype was overrepresented in patients (p = 0.007).


CONCLUSIONS
Serotonergic mechanisms appear to be related to OSAS. The T102C polymorphism of the 5-HT2A receptor gene is not associated with OSAS. However, the -1438G/A polymorphism is associated with OSAS occurrence, especially in male patients. This polymorphism may also be associated with different OSAS incidences of both genders.
Bayazit
Yildirim A
YA
Department of Otolaryngology, Faculty of Medicine, Gazi University, Ankara, Turkey. bayazity@yahoo.com
Yilmaz
Metin
M
Ciftci
Tansu
T
Erdal
Emin
E
Kokturk
Oguz
O
Gokdogan
Tuba
T
Kemaloglu
Yusuf K
YK
Inal
Erdogan
E
D016022:Case-Control Studies; D016009:Chi-Square Distribution; D004587:Electrophoresis, Agar Gel; D005260:Female; D005838:Genotype; D006801:Humans; D008297:Male; D011110:Polymorphism, Genetic; D044402:Receptor, Serotonin, 5-HT2A / Q000235:genetics*; D050486:Serotonin Plasma Membrane Transport Proteins / Q000235:genetics; D020181:Sleep Apnea, Obstructive / Q000235:genetics*
D044402:Receptor, Serotonin, 5-HT2A; D050486:Serotonin Plasma Membrane Transport Proteins