กรุณาใช้ตัวระบุนี้เพื่ออ้างอิงหรือเชื่อมต่อรายการนี้: http://ir.swu.ac.th/jspui/handle/123456789/13996
ชื่อเรื่อง: Polymorphisms in nitric oxide synthase and endothelin genes among children with obstructive sleep apnea
ผู้แต่ง/ผู้ร่วมงาน: Chatsuriyawong S.
Gozal D.
Kheirandish-Gozal L.
Bhattacharjee R.
Khalyfa A.A.
Wang Y.
Sukhumsirichart W.
Khalyfa A.
คำสำคัญ: endothelial nitric oxide synthase
endothelin
endothelin receptor
genomic DNA
inducible nitric oxide synthase
isoprotein
neuronal nitric oxide synthase
nitric oxide synthase
oxyhemoglobin
protein EDNRA
protein EDNRB
unclassified drug
apnea hypopnea index
article
blood analysis
child
cohort analysis
computer program
controlled study
DNA extraction
Edn1 gene
EDN2 gene
EDN3 gene
EDNRA gene
EDNRB gene
endothelial dysfunction
female
gene
gene frequency
gene linkage disequilibrium
genetic identification
genotype
human
major clinical study
male
multigene family
NOS1 gene
Nos2 gene
NOS3 gene
oxygen saturation
polysomnography
preschool child
priority journal
protein assembly
protein localization
school child
single nucleotide polymorphism
sleep disordered breathing
sleep time
snoring
time to maximum plasma concentration
Osa
Child
Child, Preschool
Endothelins
Female
Gene Frequency
Genetic Predisposition to Disease
Humans
Male
Nitric Oxide Synthase
Polymorphism, Single Nucleotide
Polysomnography
Sleep Apnea, Obstructive
วันที่เผยแพร่: 2013
บทคัดย่อ: Background: 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.
URI: https://www.scopus.com/inward/record.uri?eid=2-s2.0-84883539642&doi=10.1186%2f1755-8794-6-29&partnerID=40&md5=34c08555d43480562c5a617b69bd2590
http://ir.swu.ac.th/jspui/handle/123456789/13996
ISSN: 17558794
ปรากฏในกลุ่มข้อมูล:Scopus 1983-2021

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