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(Reference retrieved automatically from Web of Science through information on FAPESP grant and its corresponding number as mentioned in the publication by the authors.)

Genome-wide association study reveals two novel risk alleles for incident obstructive sleep apnea in the EPISONO cohort

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Author(s):
Tempaku, Priscila Farias [1] ; Santoro, Marcos Leite [2, 3] ; Bittencourt, Lia [1] ; D'Almeida, Vania [1] ; Belangero, Sintia Iole [2, 3] ; Tufik, Sergio [1]
Total Authors: 6
Affiliation:
[1] Univ Fed Sao Paulo, Dept Psicobiol, Sao Paulo - Brazil
[2] Univ Fed Sao Paulo, Dept Morfol & Genet, Sao Paulo - Brazil
[3] Univ Fed Sao Paulo, Dept Psiquiatria, Sao Paulo - Brazil
Total Affiliations: 3
Document type: Journal article
Source: Sleep Medicine; v. 66, p. 24-32, FEB 2020.
Web of Science Citations: 0
Abstract

Objective/background: Obstructive sleep apnea (OSA) is a sleep-related breathing disorder that has a complex phenotype. Currently, few genes have been linked with OSA. Thus, the aim of this study was to conduct a genome-wide association study (GWAS) of the apnea-hypopnea index (AHI) variation along time (delta-AHI) in a prospective cohort. Methods: We used data derived from the Sao Paulo Epidemiologic Sleep Study (EPISONO) (n = 1074) cohort, which was followed over eight years (n = 712). Our phenotype of interest was delta-AHI and incident OSA. Further, we were interested on the time-dependent effect of genetic variants. Our final GWAS model used delta-AHI as a dependent variable and the SNPs and covariates as independent variables. We also performed a gene-set and pathway analysis. Results: The delta-AHI increased on average 6.1 events/hour (standard deviation = 14.9) over the followup. We found two significant and 21 suggestive variants associated with delta-AHI. The strongest association (rs12415421) was observed at ST8SIA6 gene and the other significant hit (rs4731117) was in an intergenic region in linkage disequilibrium with our third hit (rs12669165) in the ASB15 gene. We found an effect of the allele rs12415421 for the OSA incidence. Additionally, we observed that individuals with both risk alleles presented a higher incidence of OSA when compared to those with one or without any risk alleles. Conclusions: This study has identified genes in these associated regions with delta-AHI, which seem to be involved in growth and stability of muscle and bone. We also observed an effect of both allele frequencies in the incidence of OSA. (C) 2019 Elsevier B.V. All rights reserved. (AU)

FAPESP's process: 18/00955-4 - Study of the effect of obstructive sleep apnea on the telomere length and its associated mechanisms
Grantee:Priscila Farias Tempaku
Support Opportunities: Scholarships in Brazil - Doctorate