الفهرس 
Introduction and Aim of the WorkOnly 14 pages are availabe for public view
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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.