Association of obstructive sleep apnea hypopnea syndrome with cardiovascular disease: a candidate gene association study

Background: Obstructive Sleep Apnea Hypopnea Syndrome (OSAHS) is a complex disorder influenced by multiple factors and a potential genetic background. A recent Genome-Wide Association Study of patients with OSAHS showed a statistically significant correlation of the mutations in GPR83, ATP2B4 and ARRB1 genes. Objectives: The purpose of the study is to investigate polymorphisms of genes GPR83, ATP2B4 and ARRB1 and aim to explore their possible association between demographic and clinical findings of (1) patients with OSAHS, (2) patients with OSAHS and cardiovascular comorbidity, (3) patients with OSAHS and PE and (4) a control group. Methods: A total of 70 OSAHS patients and 50 controls were analyzed for the following SNPs: rs999944A (GPR83), rs35329661T (ARRB1) and rs116133558T (ATP2B4). The subjects underwent a complete polysomnography study in the Clinic of Sleep Disorders of the Respiratory Medicine Department of the University General Hospital of Larissa. Following the study, we performed blood in order to search for mutations in GPR83, ATP2B4 and ARRB1 genes. Results: The analysis did not show any association for the GPR83, ATP2B4 and ARRB1 genes with OSAHS. The rs35329661T was present in 2.9% of patients vs 6% of controls, the rs116133558T was absent in both groups and the rs999944A was present in 21.4% of patients versus 24% of controls (p>0.05 in all cases). The allele frequency did not differ between groups. Conclusions: Our results cannot suggest that there is an association between OSAHS development and mutations in GPR83, ATP2B4 and ARRB1 genes. A larger cohort is warranted in order to draw any definite conclusions.