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dc.contributor.authorChatsuriyawong S.
dc.contributor.authorGozal D.
dc.contributor.authorKheirandish-Gozal L.
dc.contributor.authorBhattacharjee R.
dc.contributor.authorKhalyfa A.A.
dc.contributor.authorWang Y.
dc.contributor.authorSukhumsirichart W.
dc.contributor.authorKhalyfa A.
dc.description.abstractBackground: Obstructive sleep apnea (OSA) is associated with adverse and interdependent cognitive and cardiovascular consequences. Increasing evidence suggests that nitric oxide synthase (NOS) and endothelin family (EDN) genes underlie mechanistic aspects of OSA-associated morbidities. We aimed to identify single nucleotide polymorphisms (SNPs) in the NOS family (3 isoforms), and EDN family (3 isoforms) to identify potential associations of these SNPs in children with OSA. Methods. A pediatric community cohort (ages 5-10 years) enriched for snoring underwent overnight polysomnographic (NPSG) and a fasting morning blood draw. The diagnostic criteria for OSA were an obstructive apnea-hypopnea Index (AHI) >2/h total sleep time (TST), snoring during the night, and a nadir oxyhemoglobin saturation <92%. Control children were defined as non-snoring children with AHI <2/h TST (NOSA). Endothelial function was assessed using a modified post-occlusive hyperemic test. The time to peak reperfusion (Tmax) was considered as the indicator for normal endothelial function (NEF; Tmax<45 sec), or ED (Tmax≥45 sec). Genomic DNA from peripheral blood was extracted and allelic frequencies were assessed for, NOS1 (209 SNPs), NOS2 (122 SNPs), NOS3 (50 SNPs), EDN1 (43 SNPs), EDN2 (48 SNPs), EDN3 (14 SNPs), endothelin receptor A, EDNRA, (27 SNPs), and endothelin receptor B, EDNRB (23 SNPs) using a custom SNPs array. The relative frequencies of NOS-1,-2, and -3, and EDN-1,-2,-3,-EDNRA, and-EDNRB genotypes were evaluated in 608 subjects [128 with OSA, and 480 without OSA (NOSA)]. Furthermore, subjects with OSA were divided into 2 subgroups: OSA with normal endothelial function (OSA-NEF), and OSA with endothelial dysfunction (OSA-ED). Linkage disequilibrium was analyzed using Haploview version 4.2 software. Results: For NOSA vs. OSA groups, 15 differentially distributed SNPs for NOS1 gene, and 1 SNP for NOS3 emerged, while 4 SNPs for EDN1 and 1 SNP for both EDN2 and EDN3 were identified. However, in the smaller sub-group for whom endothelial function was available, none of the significant SNPs was retained due to lack of statistical power. Conclusions: Differences in the distribution of polymorphisms among NOS and EDN gene families suggest that these SNPs could play a contributory role in the pathophysiology and risk of OSA-induced cardiovascular morbidity. Thus, analysis of genotype-phenotype interactions in children with OSA may assist in the formulation of categorical risk estimates. © 2013 Chatsuriyawong et al.; licensee BioMed Central Ltd.
dc.subjectendothelial nitric oxide synthase
dc.subjectendothelin receptor
dc.subjectgenomic DNA
dc.subjectinducible nitric oxide synthase
dc.subjectneuronal nitric oxide synthase
dc.subjectnitric oxide synthase
dc.subjectprotein EDNRA
dc.subjectprotein EDNRB
dc.subjectunclassified drug
dc.subjectapnea hypopnea index
dc.subjectblood analysis
dc.subjectcohort analysis
dc.subjectcomputer program
dc.subjectcontrolled study
dc.subjectDNA extraction
dc.subjectEdn1 gene
dc.subjectEDN2 gene
dc.subjectEDN3 gene
dc.subjectEDNRA gene
dc.subjectEDNRB gene
dc.subjectendothelial dysfunction
dc.subjectgene frequency
dc.subjectgene linkage disequilibrium
dc.subjectgenetic identification
dc.subjectmajor clinical study
dc.subjectmultigene family
dc.subjectNOS1 gene
dc.subjectNos2 gene
dc.subjectNOS3 gene
dc.subjectoxygen saturation
dc.subjectpreschool child
dc.subjectpriority journal
dc.subjectprotein assembly
dc.subjectprotein localization
dc.subjectschool child
dc.subjectsingle nucleotide polymorphism
dc.subjectsleep disordered breathing
dc.subjectsleep time
dc.subjecttime to maximum plasma concentration
dc.subjectChild, Preschool
dc.subjectGene Frequency
dc.subjectGenetic Predisposition to Disease
dc.subjectNitric Oxide Synthase
dc.subjectPolymorphism, Single Nucleotide
dc.subjectSleep Apnea, Obstructive
dc.titlePolymorphisms in nitric oxide synthase and endothelin genes among children with obstructive sleep apnea
dc.identifier.bibliograpycitationBMC Medical Genomics. Vol 6, No.1 (2013), p.-
Appears in Collections:Scopus 1983-2021

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