Association of JAG1 gene polymorphism with systemic blood pressure in patients with obstructive sleep apnea: a prospective cohort study.

AIM: To assess the effects of single nucleotide polymorphisms (SNPs) on blood pressure control in patients with obstructive sleep apnea (OSA). METHODS: This prospective observational cohort study, conducted between 2004 and 2014, examined the associations of SNPs of JAG1, GUCY1A3-GUCY1B3, SH2B3, and NPR3-C5orf23 genes with systolic and diastolic blood pressure (SBP, DBP) in 1179 adults evaluated for OSA with overnight polysomnography. Genotyping was performed by unlabeled probe melting analysis. RESULTS: The patients were predominantly male (69.6%, mean age 52±11 years, apnea-hypopnea index 34±31 episodes/h). Only JAG1 genotype was associated with SBP and DBP: compared with AA homozygotes, G allele carriers (pooled GG and AG genotype) had significantly higher morning SBP (132±19 vs 129±18 mm Hg; P=0.009) and morning and evening DBP (85±11 vs 83±10 mm Hg, P=0.004; 86±10 vs 84±10 mm Hg, P=0.012, respectively); the differences remained significant after the correction for multiple SNPs testing. In multivariate analyses, oxygen desaturation index and JAG1 genotype independently predicted morning SBP (P=0.001, P=0.003, respectively) and DBP (P<0.001, P=0.005, respectively), and evening SBP (P=0.019, P=0.048, respectively) and DBP (P=0.018, P=0.018, respectively). CONCLUSION: This is the first replication study of the SNPs recently linked to arterial hypertension in general population by genome-wide association studies. Our findings suggest that JAG1 genotype is related to blood pressure control in OSA: G allele was associated with higher morning and evening SBP and DBP.

EU questionnaire to screen for obstructive sleep apnoea validated in Slovakia.

OBJECTIVE: Obstructive sleep apnoea syndrome (OSAS) associated with daytime sleepiness (DS) contributes to a higher incidence of motor vehicle accidents. Validation of fitness to drive in driving license applicants, with special concern regarding OSAS accompanied by excessive DS, became mandatory under new EU legislation in January 2016. The aim of the study was to translate and validate the recommended questionnaire to screen for OSAS (Q-OSAS) in the Slovak population. No data on any Q-OSAS validation has previously been published. METHODS: The translated Q-OSAS was administered to 311 Slovak patients prior to a planned overnight polysomnography. The diagnostic accuracy of the Q-OSAS in OSAS with an apnoea-hypopnoea index of 15 or more/h of sleep was evaluated by calculating the area under the ROC curve. RESULTS: The sensitivity and specificity of the cut-off at 10 points for the Q-OSAS was 57% and 67%, respectively, with an increase of sensitivity and a decrease of specificity with a lowering of the cut-off values. Excluding the Epworth Sleepiness Scale (ESS) score from the final statistics yielded the best sensitivity (77%), specificity (50%), and an area under the ROC curve (0.637) for the cut-off value of 8 points (an equivalent of 10 points with the full version of the Q-OSAS). CONCLUSION: The Q-OSAS is an appropriate screening tool to facilitate the screening of subjects potentially at risk from moderate and severe OSAS. A modified two-step interpretation of the Q-OSAS in Slovakia yielded the best sensitivity, and in the future could promote evaluation of sleepiness in sleep and wake disorders other than OSAS for fitness to drive.