JAG1gene polymorphism is related to systemic blood pressure in patients with obstructive sleep apnoea

Rationale. Genome-wide association studies (GWAS) identified multiple loci associated with blood pressure (BP) control. We evaluated the effects of single nucleotide polymorphisms (SNPs) of JAG1 , GUCY1A3-GUCY 1B3 , SH2B3 , FGF5 , and NPR3-C5orf23 on systolic and diastolic blood pressure (SBP, DBP) in patients with obstructive sleep apnoea (OSA). Methods. 1179 adult subjects evaluated for suspected OSA underwent overnight polysomnography. Genotyping was performed by unlabeled probe melting analysis. Findings. Patients were 69.6% male (mean age 52±11 years, apnoea-hypopnoea index 34±31 /hour). Only JAG1 genotype was associated with BP. Compared to AA homozygotes, G allele carriers (pooled GG and AG genotype) had significantly higher morning and evening SBP (129±18 vs 132±19 mmHg; p=0.009; 132±17 vs 134±18 mmHg, p=0,039, respectively) and DBP (83±10 vs 85±11 mmHg, p=0.004; 84±9 vs 86±10 mmHg, p=0.012, respectively). Differences in morning SBP and DBP remained significant after correction for multiple SNPs testing (p=0.045; p=0.020). In multivariate analyses, oxygen desaturation index (ODI) (p JAG1 genotype (p R 2 =0.163, p R 2 =0.0839, p JAG1 genotype (p R 2 =0.0954, p R 2 =0.0382, p Conclusions. This is a first replication study of the respective SNPs recently linked to arterial hypertension in the general population by GWAS. Our findings suggest that JAG1 genotype is related to BP control in OSA; G allele is associated with higher morning and evening SBP and DBP. Funding APVV-0134-11, VEGA 1/0863/15 and 1/0208/16, Ministry of Education, Slovakia.