Association of Single Nucleotide Polymorphisms of Endothelin, Orexin and Vascular Endothelial Growth Factor Receptor Genes with Obstructive Sleep Apnea among Thai Ethnic
Kankanit Rattanathanawan PhD*, Panaree Busarakumtragul PhD**, Polphet Thongket MSc****, Chairat Neruntarat MD***, Wasana Sukhumsirichart PhD****
Affiliation : * Innovative Learning Center, Srinakharinwirot University, Bangkok, Thailand ** Department of Physiology, Faculty of Medicine, Srinakharinwirot University, Bangkok, Thailand *** Department of Otolaryngology, Faculty of Medicine, Srinakharinwirot University, Nakhon Nayok, Thailand **** Department of Biochemistry, Faculty of Medicine, Srinakharinwirot University, Bangkok, Thailand
Background : Obstructive sleep apnea (OSA) is a complex disorder characterized by repetitive collapse of upper airway
during sleep which strongly influenced by genetic factors, especially those affect regulation of the sleep-wake cycle and
endothelial function.
Objective : This study investigated the association between single nucleotide polymorphisms (SNPs) in endothelin (EDNRA),
orexin (OX1R, OX2R) and vascular endothelial growth factor (VEGFR1) receptor genes with risk of OSA in Thai population.
Material and Method: All subjects were diagnosed by overnight polysomnography (PSG) before divided into OSA (59) and
NOSA (60) groups based on their apnea-hypopnea index (AHI). Serum lipid levels were examined by using enzymatic
colorimetric and homogeneous methods. DNAs were extracted and genotyped the SNPs by polymerase chain reaction (PCR)
and high-resolution melting (HRM) analysis. Genotype distribution were analyzed using Chi-square test of SPSS program
version 15.0.
Results : The triglycerides level of OSA patients was significantly higher than NOSA (p-value = 0.002). The SNPs in EDNRA
(rs5335), OX1R (rs2271933), OX2R (rs2292040, rs10456182) and VEGFR1 (rs11149523) genes showed no association
with OSA. However, the SNP (rs17675063) in EDNRA gene showed significant differences in genotype distribution in the
subjects with and without OSA (p-value = 0.002, odds ratio = 3.29 and 95% CI = 1.86-5.82).
Conclusion : The results suggested that SNP in EDNRA gene (rs17675063) associates with the risk of OSA in Thai population.
It may be used as a marker for this disease.
Keywords : Obstructive sleep apnea, Single nucleotide polymorphisms, Endothelin receptor type A, Orexin receptor 1, Orexin receptor 2, Vascular endothelial growth factor receptor type 1
