ArticleHuman molecular genetics2019
Admixture mapping identifies novel loci for obstructive sleep apnea in Hispanic/Latino Americans.
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In one paragraph
Article in Human molecular genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 40 papers, 3 of them syntheses that pooled it.
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40citing papers in PubMed, 3 pooled it
3.6field-weighted citation impact, top 6% of its field
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Who cites it
40 citing papers in PubMed, 3 syntheses or guidelines pooled it, 63 citations in OpenAlex.
- Racial and Ethnic Disparities in the Diagnosis and Treatment of Obstructive Sleep Apnea: A Systematic Review.International journal of environmental research and public health · 2026Pooled it
- Genome-wide association study of obstructive sleep apnoea in the Million Veteran Program uncovers genetic heterogeneity by sex.EBioMedicine · 2023Pooled it
- Discovery of genomic loci associated with sleep apnea risk through multi-trait GWAS analysis with snoring.Sleep · 2023Pooled it
- Characterizing features of the genetic architecture underlying autism from a multi-ancestry perspective.Molecular psychiatry · 2026Article
- Influence of Ancestry and Molecular Markers on the Severity of Obstructive Sleep Apnea: A Systematic Review and Meta-Analysis.Sleep science (Sao Paulo, Brazil) · 2026Review
- Old vs. new local ancestry inference in HCHS/SOL: a comparative study.Human molecular genetics · 2025Article
- Opportunities and challenges of local ancestry in genetic association analyses.American journal of human genetics · 2025Review
- Old vs. New Local Ancestry Inference in HCHS/SOL: A Comparative Study.bioRxiv : the preprint server for biology · 2025Article
- Advancements in genetic research by the Hispanic Community Health Study/Study of Latinos: A 10-year retrospective review.HGG advances · 2025Review
- The Importance of Genetic Background and Neurotransmission in the Pathogenesis of the Co-Occurrence of Sleep Bruxism and Sleep-Disordered Breathing-Review of a New Perspective.Journal of clinical medicine · 2024Review
- Lipid metabolism and neuromuscular junction as common pathways underlying the genetic basis of erectile dysfunction and obstructive sleep apnea.International journal of impotence research · 2024Article
- UGT1A1*28 polymorphism and the risk of toxicity and disease progression in patients with breast cancer receiving sacituzumab govitecan.Cancer medicine · 2024Article
- Waking Up the Sleep Field: An Overview on the Implications of Genetics and Bioinformatics of Sleep.Molecular biotechnology · 2024Review
- Association of Sleep Pattern and Genetic Susceptibility with Obstructive Sleep Apnea: A Prospective Analysis of the UK Biobank.Nature and science of sleep · 2024Article
- Exploring the Shared Genetic Architecture Between Obstructive Sleep Apnea and Body Mass Index.Nature and science of sleep · 2024Article
- Ancestry-driven metabolite variation provides insights into disease states in admixed populations.Genome medicine · 2023Article
- Admixture mapping implicates 13q33.3 as ancestry-of-origin locus for Alzheimer disease in Hispanic and Latino populations.HGG advances · 2023Article
- International Consensus Statement on Obstructive Sleep Apnea.International forum of allergy & rhinology · 2023Review
- Evolving Science on Cardiovascular Disease Among Hispanic/Latino Adults: JACC International.Journal of the American College of Cardiology · 2023Review
- Molecular Pathology, Oxidative Stress, and Biomarkers in Obstructive Sleep Apnea.International journal of molecular sciences · 2023Review
Corrections and comments
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Authors and funding
43 authors at 20 institutions in 1 country.
Heming WangDepartment of Population and Quantitative Health Sciences, Case Western Reserve University, Cleveland, OH, USA.
Brian E CadeDivision of Sleep and Circadian Disorders, Brigham and Women's Hospital, Boston, MA, USA.
Tamar SoferDivision of Sleep and Circadian Disorders, Brigham and Women's Hospital, Boston, MA, USA.
Scott A SandsDivision of Sleep and Circadian Disorders, Brigham and Women's Hospital, Boston, MA, USA.
Han ChenHuman Genetics Center, Department of Epidemiology, Human Genetics and Environmental Sciences, School of Public Health, The University of Texas Health Science Center at Houston, Houston, TX, USA.
Sharon R BrowningDepartment of Biostatistics, University of Washington, Seattle, WA, USA.
Adrienne M StilpDepartment of Biostatistics, University of Washington, Seattle, WA, USA.
Tin L LouieDepartment of Biostatistics, University of Washington, Seattle, WA, USA.
Timothy A ThorntonDepartment of Biostatistics, University of Washington, Seattle, WA, USA.
W Craig JohnsonDepartment of Biostatistics, University of Washington, Seattle, WA, USA.
Jennifer E BelowVanderbilt Genetics Institute, Department of Medical Genetics, Vanderbilt University Medical Center, Nashville, TN, USA.
Matthew P ConomosDepartment of Biostatistics, University of Washington, Seattle, WA, USA.
Daniel S EvansCalifornia Pacific Medical Center Research Institute, San Francisco, CA, USA.
Sina A GharibComputational Medicine Core, Center for Lung Biology, UW Medicine Sleep Center, Division of Pulmonary, Critical Care and Sleep Medicine, University of Washington, Seattle, WA, USA.
Xiuqing GuoInstitute for Translational Genomics and Population Sciences, Los Angeles BioMedical Research Institute and Department of Pediatrics at Harbor-UCLA Medical Center, Torrance, CA, USA.
Alexis C WoodUSDA/ARS Children's Nutrition Research Center, Baylor College of Medicine, Houston, TX, USA.
Hao MeiDepartment of Data Science, University of Mississippi Medical Center, Jackson, MS, USA.
Kristine YaffeDepartments of Psychiatry and Neurology, University of California, San Francisco, San Francisco, CA, USA.
Jose S LoredoDivision of Pulmonary Critical Care and Sleep Medicine, Department of Medicine, UC San Diego School of Medicine, La Jolla, CA, USA.
Alberto R RamosDepartment of Neurology, University of Miami Miller School of Medicine, Miami, FL, USA.
Elizabeth Barrett-ConnorDepartment of Family and Preventive Medicine, University of California, San Diego, CA, USA.
Sonia Ancoli-IsraelDepartments of Medicine and Psychiatry, University of California, San Diego, CA, USA.
Phyllis C ZeeDepartment of Neurology and Sleep Medicine Center, Northwestern University, Chicago, IL, USA.
Raanan ArensThe Children's Hospital at Montefiore, Division of Respiratory and Sleep Medicine, Albert Einstein College of Medicine, Bronx, NY, USA.
Neomi A ShahDivision of Pulmonary, Critical Care and Sleep Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Kent D TaylorInstitute for Translational Genomics and Population Sciences, Los Angeles BioMedical Research Institute and Department of Pediatrics at Harbor-UCLA Medical Center, Torrance, CA, USA.
Gregory J TranahCalifornia Pacific Medical Center Research Institute, San Francisco, CA, USA.
Katie L StoneCalifornia Pacific Medical Center Research Institute, San Francisco, CA, USA.
Craig L HanisHuman Genetics Center, Department of Epidemiology, Human Genetics and Environmental Sciences, School of Public Health, The University of Texas Health Science Center at Houston, Houston, TX, USA.
James G WilsonPhysiology and Biophysics, University of Mississippi, Jackson, MS, USA.
Daniel J GottliebDivision of Sleep and Circadian Disorders, Brigham and Women's Hospital, Boston, MA, USA.
Sanjay R PatelDivision of Pulmonary, Allergy and Critical Care Medicine, University of Pittsburgh Medical Center, Pittsburgh, PA, USA.
Ken RiceDepartment of Biostatistics, University of Washington, Seattle, WA, USA.
Wendy S PostDivision of Cardiology, Johns Hopkins University, Baltimore, MD, USA.
Jerome I RotterInstitute for Translational Genomics and Population Sciences, Los Angeles BioMedical Research Institute and Department of Pediatrics at Harbor-UCLA Medical Center, Torrance, CA, USA.
Shamil R SunyaevBroad Institute, Cambridge, MA 02142, USA.
Jianwen CaiDepartment of Biostatistics, University of North Carolina, Chapel Hill, NC, USA.
Xihong LinDepartment of Biostatistics, Harvard T.H. Chan School of Public Health, Boston, MA, USA.
Shaun M PurcellDivision of Sleep and Circadian Disorders, Brigham and Women's Hospital, Boston, MA, USA.
Cathy C LaurieDepartment of Biostatistics, University of Washington, Seattle, WA, USA.
Richa SaxenaDivision of Sleep and Circadian Disorders, Brigham and Women's Hospital, Boston, MA, USA.
Susan RedlineDivision of Sleep and Circadian Disorders, Brigham and Women's Hospital, Boston, MA, USA.
Xiaofeng ZhuDepartment of Population and Quantitative Health Sciences, Case Western Reserve University, Cleveland, OH, USA.
University of Washington · USBrigham and Women's Hospital · USCalifornia Pacific Medical Center · USHarvard University · USUniversity of California, San Diego · USCircadian (United States) · USThe Lundquist Institute · USThe University of Texas Health Science Center at Houston · USCase Western Reserve University · USChildren's Hospital at Montefiore · USChildren's Nutrition Research Center at Baylor College of Medicine · USHarbor–UCLA Medical Center · USIcahn School of Medicine at Mount Sinai · USJohns Hopkins University · USNorthwestern University · USUniversity of California, San Francisco · USUniversity of Miami · USUniversity of Mississippi · USUniversity of Mississippi Medical Center · USUniversity of North Carolina at Chapel Hill · US
Funding
UCLA Clinical Translational Science InstituteUL1TR001881 · NCATS · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI ARLEEN F. BROWN, ARASH NAEIM · 2016 to 2026
$118.1MInstitute for Clinical and Translational ResearchUL1TR001079 · NCATS · JOHNS HOPKINS UNIVERSITY · PI FORD, DANIEL ERNEST · 2013 to 2017
$60.1MUCLA Clinical and Translational Science InstituteUL1TR000124 · NCATS · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI DUBINETT, STEVEN M. · 2012 to 2015
$57.0MTransgenic & Knock-out MouseP30DK063491 · NIDDK · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI Andrea L Hevener · 2003 to 2026
$40.4MTracking and Evaluation CoreU54GM115428 · NIGMS · UNIVERSITY OF MISSISSIPPI MED CTR · PI MASON, SARAH · 2016 to 2025
$38.2MWake Forest Clinical and Translational Science AwardUL1TR001420 · NCATS · WAKE FOREST UNIVERSITY HEALTH SCIENCES · PI ARD, JAMY D, FOLEY, KRISTIE L · 2015 to 2023
$32.3MOregon Clinical and Translational Research InstituteUL1TR000128 · NCATS · OREGON HEALTH & SCIENCE UNIVERSITY · PI ELLISON, DAVID H · 2012 to 2015
$28.7MClinical and Translational Science AwardUL1TR000040 · NCATS · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI GINSBERG, HENRY N · 2012 to 2015
$26.2MPilot and Feasibility ProgramP30DK020595 · NIDDK · UNIVERSITY OF CHICAGO · PI Raghavendra G Mirmira · 2013 to 2026
$20.9MUCLA CLINICAL AND TRANSLATIONAL SCIENCE INSTITUTEUL1RR033176 · NCRR · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI DUBINETT, STEVEN M. · 2011 to 2011
$15.5MSleep in Neurocognitive Aging and Alzheimers Research (SANAR)R01AG067568 · NIA · UNIVERSITY OF MIAMI SCHOOL OF MEDICINE · PI Alberto Rafael Ramos · 2021 to 2026
$13.7MVascular Effects of Heparan Sulfate ProteoglycansP50HL056984 · NHLBI · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI TALL, ALAN RICHARD · 1997 to 2006
$13.1MNCATS NIH HHS UL1 TR000040NCATS NIH HHS UL1 TR000124NCATS NIH HHS UL1 TR000128NCATS NIH HHS UL1 TR001079NCATS NIH HHS UL1 TR001420NCATS NIH HHS UL1 TR001881NCRR NIH HHS KL2 RR024990NCRR NIH HHS UL1 RR033176NHGRI NIH HHS R01 HG003054NHLBI NIH HHS HHSN268201100005CNHLBI NIH HHS HHSN268201100005GNHLBI NIH HHS HHSN268201100005INHLBI NIH HHS HHSN268201100006CNHLBI NIH HHS HHSN268201100007CNHLBI NIH HHS HHSN268201100007INHLBI NIH HHS HHSN268201100008CNHLBI NIH HHS HHSN268201100008INHLBI NIH HHS HHSN268201100009CNHLBI NIH HHS HHSN268201100009INHLBI NIH HHS HHSN268201100010CNHLBI NIH HHS HHSN268201100011CNHLBI NIH HHS HHSN268201100011INHLBI NIH HHS HHSN268201100012CNHLBI NIH HHS HHSN268201200036CNHLBI NIH HHS HHSN268201300005CNHLBI NIH HHS HHSN268201300046CNHLBI NIH HHS HHSN268201300047CNHLBI NIH HHS HHSN268201300048CNHLBI NIH HHS HHSN268201300049CNHLBI NIH HHS HHSN268201300050CNHLBI NIH HHS HHSN268201500003CNHLBI NIH HHS HHSN268201500003INHLBI NIH HHS K01 HL135405NHLBI NIH HHS N01 HC015103NHLBI NIH HHS N01 HC025195NHLBI NIH HHS N01 HC035129NHLBI NIH HHS N01 HC045133NHLBI NIH HHS N01 HC065233NHLBI NIH HHS N01 HC065234NHLBI NIH HHS N01 HC065235NHLBI NIH HHS N01 HC065236NHLBI NIH HHS N01 HC065237NHLBI NIH HHS N01 HC075150NHLBI NIH HHS N01 HC085080NHLBI NIH HHS N01 HC085081NHLBI NIH HHS N01 HC085082NHLBI NIH HHS N01 HC085083NHLBI NIH HHS N01 HC085084NHLBI NIH HHS N01 HC085085NHLBI NIH HHS N01 HC085086NHLBI NIH HHS N01 HC095159NHLBI NIH HHS N01 HC095160NHLBI NIH HHS N01 HC095161NHLBI NIH HHS N01 HC095162NHLBI NIH HHS N01 HC095163NHLBI NIH HHS N01 HC095164NHLBI NIH HHS N01 HC095165NHLBI NIH HHS N01 HC095166NHLBI NIH HHS N01 HC095167NHLBI NIH HHS N01 HC095168NHLBI NIH HHS N01 HC095169NHLBI NIH HHS N01HC55222NHLBI NIH HHS N01HC85079NHLBI NIH HHS N02 HL64278NHLBI NIH HHS P50 HL056984NHLBI NIH HHS R01 HL046380NHLBI NIH HHS R01 HL070837NHLBI NIH HHS R01 HL070838NHLBI NIH HHS R01 HL070839NHLBI NIH HHS R01 HL070841NHLBI NIH HHS R01 HL070842NHLBI NIH HHS R01 HL070847NHLBI NIH HHS R01 HL070848NHLBI NIH HHS R01 HL071194NHLBI NIH HHS R01 HL085251NHLBI NIH HHS R01 HL087652NHLBI NIH HHS R01 HL098433NHLBI NIH HHS R01 HL102830NHLBI NIH HHS R01 HL105756NHLBI NIH HHS R01 HL113338NHLBI NIH HHS R35 HL135818NHLBI NIH HHS U01 HL053941NHLBI NIH HHS U01 HL080295NIAID NIH HHS R01 AI085014NIAMS NIH HHS R01 AR051124NIAMS NIH HHS RC2 AR058973NIAMS NIH HHS U01 AR066160NIA NIH HHS R01 AG023629NIA NIH HHS R01 AG067568NIA NIH HHS U01 AG027810NIA NIH HHS U01 AG042124NIA NIH HHS U01 AG042139NIA NIH HHS U01 AG042140NIA NIH HHS U01 AG042143NIA NIH HHS U01 AG042145NIA NIH HHS U01 AG042168NIDDK NIH HHS P30 DK020595NIDDK NIH HHS P30 DK063491NIDDK NIH HHS R01 DK073541NIDDK NIH HHS R01 DK107859NIDDK NIH HHS U01 DK085501NIGMS NIH HHS U54 GM115428NIH HHS HHSN263201500003I
Abstract
Obstructive sleep apnea (OSA) is a common disorder associated with increased risk of cardiovascular disease and mortality. Its prevalence and severity vary across ancestral background. Although OSA traits are heritable, few genetic associations have been identified. To identify genetic regions associated with OSA and improve statistical power, we applied admixture mapping on three primary OSA traits [the apnea hypopnea index (AHI), overnight average oxyhemoglobin saturation (SaO2) and percentage time SaO2 < 90%] and a secondary trait (respiratory event duration) in a Hispanic/Latino American population study of 11 575 individuals with significant variation in ancestral background. Linear mixed models were performed using previously inferred African, European and Amerindian local genetic ancestry markers. Global African ancestry was associated with a lower AHI, higher SaO2 and shorter event duration. Admixture mapping analysis of the primary OSA traits identified local African ancestry at the chromosomal region 2q37 as genome-wide significantly associated with AHI (P < 5.7 × 10-5), and European and Amerindian ancestries at 18q21 suggestively associated with both AHI and percentage time SaO2 < 90% (P < 10-3). Follow-up joint ancestry-SNP association analyses identified novel variants in ferrochelatase (FECH), significantly associated with AHI and percentage time SaO2 < 90% after adjusting for multiple tests (P < 8 × 10-6). These signals contributed to the admixture mapping associations and were replicated in independent cohorts. In this first admixture mapping study of OSA, novel associations with variants in the iron/heme metabolism pathway suggest a role for iron in influencing respiratory traits underlying OSA.
Indexed as
Genome-Wide Association StudyAgedChromosome MappingFemaleFerrochelataseGenotypeHispanic or LatinoHumansMaleMiddle AgedPolymorphism, Single NucleotidePolysomnographySleep Apnea, ObstructiveWhite PeopleFerrochelatase
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