Insights into the aetiology of snoring from observational and genetic investigations in the UK Biobank

被引:97
作者
Campos, Adrian, I [1 ,2 ]
Garcia-Marin, Luis M. [1 ,3 ]
Byrne, Enda M. [4 ]
Martin, Nicholas G. [1 ]
Cuellar-Partida, Gabriel [2 ,5 ]
Renteria, Miguel E. [1 ,2 ]
机构
[1] QIMR Berghofer Med Res Inst, Genet Epidemiol Lab, Brisbane, Qld, Australia
[2] Univ Queensland, Fac Med, Brisbane, Qld, Australia
[3] Tecnol Monterrey, Escuela Ingn & Ciencias, Zapopan, Jalisco, Mexico
[4] Univ Queensland, Inst Mol Biosci, Brisbane, Qld 4072, Australia
[5] Univ Queensland, Diamantina Inst, Brisbane, Qld, Australia
基金
澳大利亚国家健康与医学研究理事会; 澳大利亚研究理事会; 英国医学研究理事会;
关键词
OBSTRUCTIVE SLEEP-APNEA; GENOME-WIDE ASSOCIATION; MENDELIAN RANDOMIZATION; PULMONARY-DISEASE; LUNG-FUNCTION; BED PARTNERS; LOCI; QUALITY; RISK; MEN;
D O I
10.1038/s41467-020-14625-1
中图分类号
O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];
学科分类号
07 ; 0710 ; 09 ;
摘要
Although snoring is common in the general population, its aetiology has been largely understudied. Here we report a genetic study on snoring (n similar to 408,000; snorers similar to 152,000) using data from the UK Biobank. We identify 42 genome-wide significant loci, with an SNP-based heritability estimate of similar to 10% on the liability scale. Genetic correlations with body mass index, alcohol intake, smoking, schizophrenia, anorexia nervosa and neuroticism are observed. Gene-based associations identify 173 genes, including DLEU7, MSRB3 and POC5, highlighting genes expressed in the brain, cerebellum, lungs, blood and oesophagus. We use polygenic scores (PGS) to predict recent snoring and probable obstructive sleep apnoea (OSA) in an independent Australian sample (n similar to 8000). Mendelian randomization analyses suggest a potential causal relationship between high BMI and snoring. Altogether, our results uncover insights into the aetiology of snoring as a complex sleep-related trait and its role in health and disease beyond it being a cardinal symptom of OSA.
引用
收藏
页数:12
相关论文
共 80 条
[1]   Methionine Sulfoxide Reductase-B3 (MsrB3) Protein Associates with Synaptic Vesicles and its Expression Changes in the Hippocampi of Alzheimer's Disease Patients [J].
Adams, Stephanie L. ;
Benayoun, Laurent ;
Tilton, Kathy ;
Chavez, Olivia R. ;
Himali, Jayandra J. ;
Blusztajn, Jan Krzysztof ;
Seshadri, Sudha ;
Delalle, Ivana .
JOURNAL OF ALZHEIMERS DISEASE, 2017, 60 (01) :43-56
[2]   Functional Null Mutations of MSRB3 Encoding Methionine Sulfoxide Reductase Are Associated with Human Deafness DFNB74 [J].
Ahmed, Zubair M. ;
Yousaf, Rizwan ;
Lee, Byung Cheon ;
Khan, Shaheen N. ;
Lee, Sue ;
Lee, Kwanghyuk ;
Husnain, Tayyab ;
Rehman, Atteeq Ur ;
Bonneux, Sarah ;
Ansar, Muhammad ;
Ahmad, Wasim ;
Leal, Suzanne M. ;
Gladyshev, Vadim N. ;
Belyantseva, Inna A. ;
Van Camp, Guy ;
Riazuddin, Sheikh ;
Friedman, Thomas B. ;
Riazuddin, Saima .
AMERICAN JOURNAL OF HUMAN GENETICS, 2011, 88 (01) :19-29
[3]   Hundreds of variants clustered in genomic loci and biological pathways affect human height [J].
Allen, Hana Lango ;
Estrada, Karol ;
Lettre, Guillaume ;
Berndt, Sonja I. ;
Weedon, Michael N. ;
Rivadeneira, Fernando ;
Willer, Cristen J. ;
Jackson, Anne U. ;
Vedantam, Sailaja ;
Raychaudhuri, Soumya ;
Ferreira, Teresa ;
Wood, Andrew R. ;
Weyant, Robert J. ;
Segre, Ayellet V. ;
Speliotes, Elizabeth K. ;
Wheeler, Eleanor ;
Soranzo, Nicole ;
Park, Ju-Hyun ;
Yang, Jian ;
Gudbjartsson, Daniel ;
Heard-Costa, Nancy L. ;
Randall, Joshua C. ;
Qi, Lu ;
Smith, Albert Vernon ;
Maegi, Reedik ;
Pastinen, Tomi ;
Liang, Liming ;
Heid, Iris M. ;
Luan, Jian'an ;
Thorleifsson, Gudmar ;
Winkler, Thomas W. ;
Goddard, Michael E. ;
Lo, Ken Sin ;
Palmer, Cameron ;
Workalemahu, Tsegaselassie ;
Aulchenko, Yurii S. ;
Johansson, Asa ;
Zillikens, M. Carola ;
Feitosa, Mary F. ;
Esko, Tonu ;
Johnson, Toby ;
Ketkar, Shamika ;
Kraft, Peter ;
Mangino, Massimo ;
Prokopenko, Inga ;
Absher, Devin ;
Albrecht, Eva ;
Ernst, Florian ;
Glazer, Nicole L. ;
Hayward, Caroline .
NATURE, 2010, 467 (7317) :832-838
[4]   Adjusting for Heritable Covariates Can Bias Effect Estimates in Genome-Wide Association Studies [J].
Aschard, Hugues ;
Vilhjalmsson, Bjarni J. ;
Joshi, Amit D. ;
Price, Alkes L. ;
Kraft, Peter .
AMERICAN JOURNAL OF HUMAN GENETICS, 2015, 96 (02) :329-339
[5]   Phenotype and Risk Burden of Sleep Apnea A Population-Based Cohort Study [J].
Bauters, Fre A. ;
Hertegonne, Katrien B. ;
De Buyzere, Marc L. ;
Joos, Guy F. ;
Chirinos, Julio A. ;
Rietzschel, Ernst R. .
HYPERTENSION, 2019, 74 (04) :1052-1062
[6]  
Beninati W, 1999, MAYO CLIN PROC, V74, P955
[7]   From genome-wide association studies to Mendelian randomization: novel opportunities for understanding cardiovascular disease causality, pathogenesis, prevention, and treatment [J].
Benn, Marianne ;
Nordestgaard, Borge G. .
CARDIOVASCULAR RESEARCH, 2018, 114 (09) :1192-1208
[8]   Common variants at 12q14 and 12q24 are associated with hippocampal volume [J].
Bis, Joshua C. ;
DeCarli, Charles ;
Smith, Albert Vernon ;
van der Lijn, Fedde ;
Crivello, Fabrice ;
Fornage, Myriam ;
Debette, Stephanie ;
Shulman, Joshua M. ;
Schmidt, Helena ;
Srikanth, Velandai ;
Schuur, Maaike ;
Yu, Lei ;
Choi, Seung-Hoan ;
Sigurdsson, Sigurdur ;
Verhaaren, Benjamin F. J. ;
DeStefano, Anita L. ;
Lambert, Jean-Charles ;
Jack, Clifford R., Jr. ;
Struchalin, Maksim ;
Stankovich, Jim ;
Ibrahim-Verbaas, Carla A. ;
Fleischman, Debra ;
Zijdenbos, Alex ;
den Heijer, Tom ;
Mazoyer, Bernard ;
Coker, Laura H. ;
Enzinger, Christian ;
Danoy, Patrick ;
Amin, Najaf ;
Arfanakis, Konstantinos ;
van Buchem, Mark A. ;
de Bruijn, Renee F. A. G. ;
Beiser, Alexa ;
Dufouil, Carole ;
Huang, Juebin ;
Cavalieri, Margherita ;
Thomson, Russell ;
Niessen, Wiro J. ;
Chibnik, Lori B. ;
Gislason, Gauti K. ;
Hofman, Albert ;
Pikula, Aleksandra ;
Amouyel, Philippe ;
Freeman, Kevin B. ;
Phan, Thanh G. ;
Oostra, Ben A. ;
Stein, Jason L. ;
Medland, Sarah E. ;
Vasquez, Alejandro Arias ;
Hibar, Derrek P. .
NATURE GENETICS, 2012, 44 (05) :545-+
[9]   SNORING, NOCTURNAL HYPOXEMIA, AND THE EFFECT OF OXYGEN INHALATION [J].
BLOCK, AJ ;
HELLARD, DW ;
CICALE, MJ .
CHEST, 1987, 92 (03) :411-417
[10]   Effect of sleeping alone on sleep quality in female bed partners of snorers [J].
Blumen, M. ;
Salva, M. A. Quera ;
d'Ortho, M-P. ;
Leroux, K. ;
Audibert, P. ;
Fermanian, C. ;
Chabolle, F. ;
Lofaso, F. .
EUROPEAN RESPIRATORY JOURNAL, 2009, 34 (05) :1127-1131