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Cade BE, Chen H, Stilp AM, et al. Genetic Associations with Obstructive Sleep Apnea Traits in Hispanic/Latino Americans. Am J Respir Crit Care Med. 2016;194(7):886-897doi: 10.1164/rccm.201512-2431OC.
Cade, B. E., Chen, H., Stilp, A. M., Gleason, K. J., Sofer, T., Ancoli-Israel, S., Arens, R., Bell, G. I., Below, J. E., Bjonnes, A. C., Chun, S., Conomos, M. P., Evans, D. S., Johnson, W. C., Frazier-Wood, A. C., Lane, J. M., Larkin, E. K., Loredo, J. S., Post, W. S., Ramos, A. R., Rice, K., Rotter, J. I., Shah, N. A., Stone, K. L., Taylor, K. D., Thornton, T. A., Tranah, G. J., Wang, C., Zee, P. C., Hanis, C. L., Sunyaev, S. R., Patel, S. R., Laurie, C. C., Zhu, X., Saxena, R., Lin, X., & Redline, S. (2016). Genetic Associations with Obstructive Sleep Apnea Traits in Hispanic/Latino Americans. American journal of respiratory and critical care medicine, 194(7), 886-897. https://doi.org/10.1164/rccm.201512-2431OC
Cade, Brian E, et al. "Genetic Associations with Obstructive Sleep Apnea Traits in Hispanic/Latino Americans." American journal of respiratory and critical care medicine vol. 194,7 (2016): 886-897. doi: https://doi.org/10.1164/rccm.201512-2431OC
Cade BE, Chen H, Stilp AM, Gleason KJ, Sofer T, Ancoli-Israel S, Arens R, Bell GI, Below JE, Bjonnes AC, Chun S, Conomos MP, Evans DS, Johnson WC, Frazier-Wood AC, Lane JM, Larkin EK, Loredo JS, Post WS, Ramos AR, Rice K, Rotter JI, Shah NA, Stone KL, Taylor KD, Thornton TA, Tranah GJ, Wang C, Zee PC, Hanis CL, Sunyaev SR, Patel SR, Laurie CC, Zhu X, Saxena R, Lin X, Redline S. Genetic Associations with Obstructive Sleep Apnea Traits in Hispanic/Latino Americans. Am J Respir Crit Care Med. 2016 Oct 01;194(7):886-897. doi: 10.1164/rccm.201512-2431OC. PMID: 26977737; PMCID: PMC5074655.
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Am J Respir Crit Care Med. 2016 Oct 01;194(7):886-897. doi: 10.1164/rccm.201512-2431OC.

Genetic Associations with Obstructive Sleep Apnea Traits in Hispanic/Latino Americans.

American journal of respiratory and critical care medicine

Brian E Cade, Han Chen, Adrienne M Stilp, Kevin J Gleason, Tamar Sofer, Sonia Ancoli-Israel, Raanan Arens, Graeme I Bell, Jennifer E Below, Andrew C Bjonnes, Sung Chun, Matthew P Conomos, Daniel S Evans, W Craig Johnson, Alexis C Frazier-Wood, Jacqueline M Lane, Emma K Larkin, Jose S Loredo, Wendy S Post, Alberto R Ramos, Ken Rice, Jerome I Rotter, Neomi A Shah, Katie L Stone, Kent D Taylor, Timothy A Thornton, Gregory J Tranah, Chaolong Wang, Phyllis C Zee, Craig L Hanis, Shamil R Sunyaev, Sanjay R Patel, Cathy C Laurie, Xiaofeng Zhu, Richa Saxena, Xihong Lin, Susan Redline

Affiliations

  1. 1 Division of Sleep and Circadian Disorders and.
  2. 2 Division of Sleep Medicine and.
  3. 3 Department of Biostatistics, Harvard T. H. Chan School of Public Health, Boston, Massachusetts.
  4. 4 Department of Biostatistics, University of Washington, Seattle, Washington.
  5. 5 Department of Medicine and.
  6. 6 Department of Psychiatry, University of California, San Diego, California.
  7. 7 Department of Veterans Affairs San Diego Center of Excellence for Stress and Mental Health, San Diego, California.
  8. 8 The Children's Hospital at Montefiore, Division of Respiratory and Sleep Medicine, Albert Einstein College of Medicine, Bronx, New York.
  9. 9 Section of Adult and Pediatric Endocrinology, Diabetes, and Metabolism, The University of Chicago, Chicago, Illinois.
  10. 10 Human Genetics Center, School of Public Health, The University of Texas Health Science Center at Houston, Houston, Texas.
  11. 11 Division of Genetics, Brigham and Women's Hospital, Boston, Massachusetts.
  12. 12 Division of Medical Sciences, Harvard Medical School, Boston, Massachusetts.
  13. 13 California Pacific Medical Center Research Institute, San Francisco, California.
  14. 14 Children's Nutrition Research Center, Baylor College of Medicine, Houston, Texas.
  15. 15 Center for Human Genetic Research and Department of Anesthesia, Pain, and Critical Care Medicine, Massachusetts General Hospital, Boston, Massachusetts.
  16. 16 Program in Medical and Population Genetics, Broad Institute, Cambridge, Massachusetts.
  17. 17 Department of Medicine, Division of Allergy, Pulmonary and Critical Care, Vanderbilt University Medical Center, Nashville, Tennessee.
  18. 18 Division of Pulmonary Critical Care and Sleep Medicine, Department of Medicine, UC San Diego School of Medicine, La Jolla, California.
  19. 19 Division of Cardiology, Johns Hopkins University, Baltimore, Maryland.
  20. 20 Department of Neurology, University of Miami Miller School of Medicine, Miami, Florida.
  21. 21 Institute for Translational Genomics and Population Sciences, Los Angeles BioMedical Research Institute at Harbor-UCLA Medical Center, Torrance, California.
  22. 22 Department of Medicine, Montefiore Medical Center, Bronx, New York.
  23. 23 Genome Institute of Singapore, Singapore.
  24. 24 Department of Neurology and Sleep Medicine Center, Northwestern University, Chicago, Illinois.
  25. 25 Division of Pulmonary, Critical Care, and Sleep Medicine, Beth Israel Deaconess Medical Center, Boston, Massachusetts; and.
  26. 26 Department of Epidemiology and Biostatistics, School of Medicine, Case Western Reserve University, Cleveland, Ohio.

PMID: 26977737 PMCID: PMC5074655 DOI: 10.1164/rccm.201512-2431OC

Abstract

RATIONALE: Obstructive sleep apnea is a common disorder associated with increased risk for cardiovascular disease, diabetes, and premature mortality. Although there is strong clinical and epidemiologic evidence supporting the importance of genetic factors in influencing obstructive sleep apnea, its genetic basis is still largely unknown. Prior genetic studies focused on traits defined using the apnea-hypopnea index, which contains limited information on potentially important genetically determined physiologic factors, such as propensity for hypoxemia and respiratory arousability.

OBJECTIVES: To define novel obstructive sleep apnea genetic risk loci for obstructive sleep apnea, we conducted genome-wide association studies of quantitative traits in Hispanic/Latino Americans from three cohorts.

METHODS: Genome-wide data from as many as 12,558 participants in the Hispanic Community Health Study/Study of Latinos, Multi-Ethnic Study of Atherosclerosis, and Starr County Health Studies population-based cohorts were metaanalyzed for association with the apnea-hypopnea index, average oxygen saturation during sleep, and average respiratory event duration.

MEASUREMENTS AND MAIN RESULTS: Two novel loci were identified at genome-level significance (rs11691765, GPR83, P = 1.90 × 10

CONCLUSIONS: These are the first genome-level significant findings reported for obstructive sleep apnea-related physiologic traits in any population. These findings identify novel associations in inflammatory, hypoxia signaling, and sleep pathways.

Keywords: GWAS; Prader–Willi syndrome; genetics; hypoxia; sleep apnea

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