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Obstructive sleep apnea syndrome (OSAS) is a prevalent form of sleep-disordered breathing that is an independent risk factor for coronary heart disease (CHD). Epidemiological studies to date have evaluated the association between genetic variants and the susceptibility to OSAS and CHD.
The purpose of this study was to identify predisposed gene of CHD patients with OSAS.
A total of 64 blood DNA samples from patients with OSAS and matched healthy controls were collected. We used an OSAS-related gene panel, including 8 amplifications in LEPR, ADIPOQ, PHOX2B, TNF, SLC6A4, ADIPOQ, HIF1A and PPARG, followed by next-generation sequencing (NGS) in the participants.
By exome sequencing, a number of newly and potentially functional variants were identified, of the variants, 85 were common polymorphisms (minor allele frequency >1%), whereas the remaining 40 were rare variants, including 27 noncoding, 9 synonymous, and 4 nonsynonymous variants. Bioinformatics analysis suggested that 2 nonsynonymous variants [ADIPOQ (rs185847354 p.Ile164Thr) and HIF1A (rs142179458 p.Asp349Asn)] were possibly or probably damaging normal function of corresponding genes. We also identified that the SLC6A4 l allele was associated with the incidence of CHD in OSAS patients, with l allele carriers displaying a higher incidence of CHD than s allele homozygotes.
Two mutations in the gene of ADIPOQ and HIF1A were significantly associated with CHD among patients with OSAS. The observed association between the SLC6A4 l allele and incidence of CHD in OSAS patients suggests that SLC6A4 genotype status may be taken into account in future therapeutic trials of CHD combined with OSAS.