The CC genotype of the delta-sarcoglycan gene polymorphism rs13170573 is associated with obstructive sleep apnea in the Chinese population.

Obstructive sleep apnea (OSA) is a highly heterogeneous sleep disorder, and increasing evidence suggests that genetic factors play a role in the etiology of OSA. Airway muscle dysfunction might promote pharyngeal collapsibility, mutations or single nucleotide polymorphisms (SNPs) in the delta-sarcoglycan (SCGD) gene associated with muscle dysfunction. To evaluate if SCGD gene SNPs are associated with OSA, 101 individuals without OSA and 97 OSA patients were recruited randomly. The genotype distributions of SNPs (rs157350, rs7715464, rs32076, rs13170573 and rs1835919) in case and control populations were evaluated. The GG, GC and CC genotypes of rs13170573 in control and OSA groups were 51.5% and 37.1%, 36.6% and 35.1%, and 11.9% and 27.8%, respectively. Significantly fewer OSA patients possessed the GG genotype and significantly more possessed the CC genotype compared with controls. Further multivariate logistic regression analysis showed that the CC genotype was an independent risk factor for OSA, with an odds ratio (OR) of 2.17 (95% confidence interval [CI]: 1.19-6.01). Other factors, such as age ≥ 50 years, male gender, body mass index (BMI) ≥ 25 kg/m(2), low-density lipoprotein cholesterol (LDL-C) level ≥ 3.33 mg/dL, smoking and hypertension, were also independent risk factors for OSA in our multivariate logistic regression model

Candidate SNPs in the SGCD gene.

<p>All candidate SNPs included in this study met the following criteria: 1) reportedly associated with a certain phenotype; 2) valid in the NCBI database; and 3) have a definite location.</p><p>Candidate SNPs in the SGCD gene.</p

Factors associated with OSA in our multivariate analysis.

<p>LDL-C, low-density lipoprotein cholesterol; BMI, body mass index; OR, odds ratio; CI, confidence interval.</p><p>Factors associated with OSA in our multivariate analysis.</p

Baseline data of the study groups.

<p>Skewed data are presented as medians (interquartile range) and categorical data as numbers (percentage). Differences in baseline characteristics were determined using Student’s t-tests, Fisher’s exact tests or χ² tests according to the data distribution characteristics.</p><p>Abbreviations: BMI, body mass index; WHR, waist circumference/hip circumference ratio; TG, triglyceride; HDL-C, high-density lipoprotein cholesterol; LDL-C, low-density lipoprotein cholesterol; apoE, apolipoprotein E; AHI, apnea-hypopnea index.</p><p>Baseline data of the study groups.</p