AUTHOR=van der Spek Ashley , Luik Annemarie I. , Kocevska Desana , Liu Chunyu , Brouwer Rutger W. W. , van Rooij Jeroen G. J. , van den Hout Mirjam C. G. N. , Kraaij Robert , Hofman Albert , Uitterlinden André G. , van IJcken Wilfred F. J. , Gottlieb Daniel J. , Tiemeier Henning , van Duijn Cornelia M. , Amin Najaf TITLE=Exome-Wide Meta-Analysis Identifies Rare 3′-UTR Variant in ERCC1/CD3EAP Associated with Symptoms of Sleep Apnea JOURNAL=Frontiers in Genetics VOLUME=8 YEAR=2017 URL=https://www.frontiersin.org/journals/genetics/articles/10.3389/fgene.2017.00151 DOI=10.3389/fgene.2017.00151 ISSN=1664-8021 ABSTRACT=
Obstructive sleep apnea (OSA) is a common sleep breathing disorder associated with an increased risk of cardiovascular and cerebrovascular diseases and mortality. Although OSA is fairly heritable (~40%), there have been only few studies looking into the genetics of OSA. In the present study, we aimed to identify genetic variants associated with symptoms of sleep apnea by performing a whole-exome sequence meta-analysis of symptoms of sleep apnea in 1,475 individuals of European descent. We identified 17 rare genetic variants with at least suggestive evidence of significance. Replication in an independent dataset confirmed the association of a rare genetic variant (rs2229918; minor allele frequency = 0.3%) with symptoms of sleep apnea (