الفهرس | Only 14 pages are availabe for public view |
Abstract Obstructive sleep apnea syndrome (OSAS) is a common condition characterized by repetitive pharyngeal collapse during sleep and daytime sleepiness that affects 2% to 4% as great in relatives of patients with OSAS than controls. Diagnosis is based on clinical symptoms of snoring and day time sleepiness, physical findings of upper airway narrowing or collapse on respiration, imaging studies, and polysomnography. It is apparent that serotonin (5-HT), a neurotransmitter in the central nervous system, is involved in the regulation of variety of visceral functions and physiologic functions such as sleep. Serotonin is involved in regulation of sleep, Polymorphism of the serotonin transporter gene leads to alterations in serotonin level and may be important in OSAS. In this study, we aimed to assess the role of serotonin transporter gene polymorphism in obstructive sleep apnea syndrome OSAS. The study sample consisted of twenty patients diagnosed of having obstructive sleep apnea syndrome OSAS (17 males and 3 females) based on both clinical assessment and polysomnographic study, The patients who met the diagnostic criteria of OSAS, were obtained from the sleep laboratory of Ain Shams Specialized Hospital, In OSAS Summary 104 patients the mean age was 45.75+ 9.75 y, body mass index (BMI) was 38.232 + 5.893. The twenty control subjects (15 males and 5 females) were screened for a personal or family history to excludes sleep disorders. The mean age was 46.000 + 8.651 y, the body mass index (BMI) was 36.176 + 5.029. The results of the present study showed non- significant statistical difference between patients and controls as regard : age , gender and body mass index. As regard genetic variant and serotonin transporter gene (STG), There were no significant relation between genetic variant and polysomnographic finding. As regard the two markers 5-HTTLPR and STin2.VNTR, There were no significant differences in genotype frequencies and allele distributions of 5- HTTLPR were found between patients And control subjects (P value > 0.05). In contrast, significant differences in frequency of genotype and alleles were found in the STin2.VNTR( Allele : 10>12, X= 16.712 P value <0.001 and Genotype: X=17.310 , P value < 0.001). We found that allele 10-repeat of the STin2.VNTR was associated with OSAS patients and 12 allele was more in control ,10/12 more in patients than control. Summary 105 After gender stratification, significant differences was found between male OSAS patients and male controls in genotype frequencies and allele distribution of STin2.VNTR, (Allele: 10>12, X=14.118 P value =0.002 and Genotype: X=20.732 P value < 0.001 ).Although the 5-HTTLPR did not show susceptibility to OSAS . Finally, it was found that Serotonin transporter gene polymorphism(STG) appears to be associated with the occurrence of obstructive sleep apnea syndrome especially in male patients. Absence of association between genetic variants and polysomnography findings may suggest that some mechanisms other than STG polymorphism are involved in pathophysiology. Our results need confirmation in a large group of patients with OSAS. |