ArticleProceedings of the National Academy of Sciences of the United States of America2018
Evaluating the contribution of rare variants to type 2 diabetes and related traits using pedigrees.
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Article in Proceedings of the National Academy of Sciences of the United States of America, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers.
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26citing papers in PubMed
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Who cites it
26 citing papers in PubMed.
- Article
- Cholera for travellers.European journal of clinical microbiology & infectious diseases : official publication of the European Society of Clinical Microbiology · 2026Review
- Variant Prioritization by Pedigree-Based Haplotyping.Genetic epidemiology · 2026Article
- Whole-genome sequencing in 333,100 individuals reveals rare non-coding single variant and aggregate associations with height.Nature communications · 2024Article
- A novel rare variants association test for binary traits in family-based designs via copulas.Statistical methods in medical research · 2023Article
- Deconstructing a Syndrome: Genomic Insights Into PCOS Causal Mechanisms and Classification.Endocrine reviews · 2022Article
- Targeted Genome Sequencing Identifies Multiple Rare Variants in Caveolin-1 Associated with Obstructive Sleep Apnea.American journal of respiratory and critical care medicine · 2022Article
- Assessing the contribution of rare genetic variants to phenotypes of chronic obstructive pulmonary disease using whole-genome sequence data.Human molecular genetics · 2022Article
- The missing heritability in type 1 diabetes.Diabetes, obesity & metabolism · 2022Review
- Whole genome sequence association analysis of fasting glucose and fasting insulin levels in diverse cohorts from the NHLBI TOPMed program.Communications biology · 2022Article
- Deviation from baseline mutation burden provides powerful and robust rare-variants association test for complex diseases.Nucleic acids research · 2022Article
- Burden of Type 2 Diabetes and Associated Cardiometabolic Traits and Their Heritability Estimates in Endogamous Ethnic Groups of India: Findings From the INDIGENIUS Consortium.Frontiers in endocrinology · 2022Article
- Whole Genome Sequence Data From Captive Baboons ImplicateFrontiers in genetics · 2021Article
- Epigenetic Regulation of β Cell Identity and Dysfunction.Frontiers in endocrinology · 2021Review
- The contribution of rare genetic variants to the pathogenesis of polycystic ovary syndrome.Current opinion in endocrine and metabolic research · 2020Article
- CRL4-Cereblon complex in Thalidomide Embryopathy: a translational investigation.Scientific reports · 2020Article
- Missing heritability of complex diseases: case solved?Human genetics · 2020Review
- An actionable KCNH2 Long QT Syndrome variant detected by sequence and haplotype analysis in a population research cohort.Scientific reports · 2019Article
- Recent advances and perspectives in next generation sequencing application to the genetic research of type 2 diabetes.World journal of diabetes · 2019Review
- The Contribution of Low-Frequency and Rare Coding Variation to Susceptibility to Type 2 Diabetes.Current diabetes reports · 2019Review
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Authors and funding
74 authors.
Goo JunDepartment of Biostatistics, University of Michigan, Ann Arbor, MI 48105; goo.jun@uth.tmc.edu.ORCID 0000-0003-0891-0204
Alisa ManningProgram in Medical and Population Genetics, Broad Institute, Cambridge, MA 02142.
Marcio AlmeidaSouth Texas Diabetes and Obesity Institute, University of Texas Rio Grande Valley, Brownsville and Edinburg, TX 78520.
Matthew ZawistowskiDepartment of Biostatistics, University of Michigan, Ann Arbor, MI 48105.
Andrew R WoodGenetics of Complex Traits, University of Exeter Medical School, University of Exeter, Exeter EX1 2LU, United Kingdom.
Tanya M TeslovichDepartment of Biostatistics, University of Michigan, Ann Arbor, MI 48105.
Christian FuchsbergerDepartment of Biostatistics, University of Michigan, Ann Arbor, MI 48105.
Shuang FengDepartment of Biostatistics, University of Michigan, Ann Arbor, MI 48105.
Pablo CingolaniGénome Québec Innovation Centre, McGill University, Montreal, QC H3A 0E9, Canada.
Kyle J GaultonWellcome Trust Centre for Human Genetics, Nuffield Department of Medicine, University of Oxford, Oxford OX3 7BN, United Kingdom.
Thomas DyerSouth Texas Diabetes and Obesity Institute, University of Texas Rio Grande Valley, Brownsville and Edinburg, TX 78520.
Thomas W BlackwellDepartment of Biostatistics, University of Michigan, Ann Arbor, MI 48105.
Han ChenHuman Genetics Center, School of Public Health, The University of Texas Health Science Center at Houston, Houston, TX 77225.
Peter S ChinesMedical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892.
Sungkyoung ChoiThe Research Institute of Basic Sciences, Seoul National University, Seoul 08826, Republic of Korea.
Claire ChurchhouseProgram in Medical and Population Genetics, Broad Institute, Cambridge, MA 02142.
Pierre FontanillasProgram in Medical and Population Genetics, Broad Institute, Cambridge, MA 02142.
Ryan KingDepartment of Medicine, Section of Genetic Medicine, The University of Chicago, Chicago, IL 60637.
SungYoung LeeInterdisciplinary Program in Bioinformatics, Seoul National University, Seoul 08826, Republic of Korea.
Stephen E LincolnComplete Genomics, Mountain View, CA 95134.
Vasily TrubetskoyDepartment of Medicine, Section of Genetic Medicine, The University of Chicago, Chicago, IL 60637.
Mark DePristoProgram in Medical and Population Genetics, Broad Institute, Cambridge, MA 02142.
Tasha FingerlinDepartment of Epidemiology, Colorado School of Public Health, University of Colorado, Aurora, CO 80045.
Robert GrossmanDepartment of Medicine, Section of Genetic Medicine, The University of Chicago, Chicago, IL 60637.
Jason GrundstadDepartment of Medicine, Section of Genetic Medicine, The University of Chicago, Chicago, IL 60637.
Alison HeathDepartment of Medicine, Section of Genetic Medicine, The University of Chicago, Chicago, IL 60637.
Jayoun KimDepartment of Statistics, Seoul National University, Seoul 08826, Republic of Korea.
Young Jin KimInterdisciplinary Program in Bioinformatics, Seoul National University, Seoul 08826, Republic of Korea.
Jason LaramieComplete Genomics, Mountain View, CA 95134.
Jaehoon LeeDepartment of Statistics, Seoul National University, Seoul 08826, Republic of Korea.
Heng LiProgram in Medical and Population Genetics, Broad Institute, Cambridge, MA 02142.
Xuanyao LiuSaw Swee Hock School of Public Health, National University of Singapore, National University Health System, Singapore 117549.
Oren LivneDepartment of Medicine, Section of Genetic Medicine, The University of Chicago, Chicago, IL 60637.
Adam E LockeDepartment of Biostatistics, University of Michigan, Ann Arbor, MI 48105.ORCID 0000-0001-6227-198X
Julian MallerClinical Research Centre, Centre for Molecular Medicine, Ninewells Hospital and Medical School, Dundee DD1 9SY, United Kingdom.
Alexander MazurGénome Québec Innovation Centre, McGill University, Montreal, QC H3A 0E9, Canada.
Andrew P MorrisWellcome Trust Centre for Human Genetics, Nuffield Department of Medicine, University of Oxford, Oxford OX3 7BN, United Kingdom.
Toni I PollinDepartment of Medicine, University of Maryland School of Medicine, Baltimore, MD 21201.
Derek RagonaDepartment of Medicine, Section of Genetic Medicine, The University of Chicago, Chicago, IL 60637.
David ReichDepartment of Genetics, Harvard Medical School, Boston, MA 02115.
Manuel A RivasWellcome Trust Centre for Human Genetics, Nuffield Department of Medicine, University of Oxford, Oxford OX3 7BN, United Kingdom.
Laura J ScottDepartment of Biostatistics, University of Michigan, Ann Arbor, MI 48105.
Xueling SimDepartment of Biostatistics, University of Michigan, Ann Arbor, MI 48105.
Rick G TearleComplete Genomics, Mountain View, CA 95134.
Yik Ying TeoSaw Swee Hock School of Public Health, National University of Singapore, National University Health System, Singapore 117549.
Amy L WilliamsProgram in Medical and Population Genetics, Broad Institute, Cambridge, MA 02142.
Sebastian ZöllnerDepartment of Biostatistics, University of Michigan, Ann Arbor, MI 48105.
Joanne E CurranSouth Texas Diabetes and Obesity Institute, University of Texas Rio Grande Valley, Brownsville and Edinburg, TX 78520.
Juan PeraltaSouth Texas Diabetes and Obesity Institute, University of Texas Rio Grande Valley, Brownsville and Edinburg, TX 78520.
Beena AkolkarNational Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health Bethesda, MD 20892.
Graeme I BellDepartment of Medicine, The University of Chicago, Chicago, IL 60637.
Noël P BurttProgram in Medical and Population Genetics, Broad Institute, Cambridge, MA 02142.
Nancy J CoxDepartment of Medicine, Section of Genetic Medicine, The University of Chicago, Chicago, IL 60637.
Jose C FlorezProgram in Medical and Population Genetics, Broad Institute, Cambridge, MA 02142.
Craig L HanisHuman Genetics Center, School of Public Health, The University of Texas Health Science Center at Houston, Houston, TX 77225.
Catherine McKeonNational Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health Bethesda, MD 20892.
Karen L MohlkeDepartment of Genetics, University of North Carolina, Chapel Hill, NC 27599.
Mark SeielstadDepartment of Laboratory Medicine, University of California, San Francisco, CA 94143.
James G WilsonDepartment of Physiology and Biophysics, University of Mississippi Medical Center, Jackson, MS 39216.
Gil AtzmonDepartment of Medicine, Albert Einstein College of Medicine, Bronx, NY 10461.
Jennifer E BelowVanderbilt Genetics Institute, Vanderbilt University School of Medicine, Nashville, TN 37332.
Josée DupuisDepartment of Biostatistics, Boston University School of Public Health, Boston, MA 02118.
Dan L NicolaeDepartment of Medicine, Section of Genetic Medicine, The University of Chicago, Chicago, IL 60637.
Donna LehmanDepartment of Medicine, University of Texas Health Science Center, San Antonio, TX 78229.
Taesung ParkDepartment of Statistics, Seoul National University, Seoul 08826, Republic of Korea.
Sungho WonSchool of Public Health, Seoul National University, Seoul 08826, Republic of Korea.
Robert SladekGénome Québec Innovation Centre, McGill University, Montreal, QC H3A 0E9, Canada.ORCID 0000-0002-2730-1204
David AltshulerProgram in Medical and Population Genetics, Broad Institute, Cambridge, MA 02142.
Mark I McCarthyWellcome Trust Centre for Human Genetics, Nuffield Department of Medicine, University of Oxford, Oxford OX3 7BN, United Kingdom.
Ravindranath DuggiralaSouth Texas Diabetes and Obesity Institute, University of Texas Rio Grande Valley, Brownsville and Edinburg, TX 78520.
Michael BoehnkeDepartment of Biostatistics, University of Michigan, Ann Arbor, MI 48105.
Timothy M FraylingGenetics of Complex Traits, University of Exeter Medical School, University of Exeter, Exeter EX1 2LU, United Kingdom.
Gonçalo R AbecasisDepartment of Biostatistics, University of Michigan, Ann Arbor, MI 48105.
John BlangeroSouth Texas Diabetes and Obesity Institute, University of Texas Rio Grande Valley, Brownsville and Edinburg, TX 78520.
Funding
Tracking and Evaluation CoreU54GM115428 · NIGMS · UNIVERSITY OF MISSISSIPPI MED CTR · PI MASON, SARAH · 2016 to 2025
$38.2MTranslational Research CoreP30DK020541 · NIDDK · ALBERT EINSTEIN COLLEGE OF MEDICINE, INC · PI STREAMSON C CHUA · 2015 to 2026
$27.7MRegional Pilot And Feasibility Study Grants ProgramP30DK020572 · NIDDK · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI Mehboob A Hussain · 2013 to 2026
$24.3MPilot and Feasibility ProgramP30DK020595 · NIDDK · UNIVERSITY OF CHICAGO · PI Raghavendra G Mirmira · 2013 to 2026
$20.9MUniversity of Michigan Training Program in Genomic ScienceT32HG000040 · NHGRI · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI Sebastian Zoellner · 1995 to 2026
$16.4MMultiethnic Study of Type 2 Diabetes GenesU01DK085526 · NIDDK · BROAD INSTITUTE, INC. · PI ALTSHULER, DAVID, JABLONSKI, KATHLEEN ANN · 2009 to 2014
$15.7MUCSF Nutrition Obesity Research CenterP30DK098722 · NIDDK · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI CHRISTIAN VAISSE · 2015 to 2026
$14.6MWhole Genome Sequencing to Identify Causal Genetic Variants Influencing CVD RiskR01HL113323 · NHLBI · UNIVERSITY OF TEXAS RIO GRANDE VALLEY · PI BLANGERO, JOHN, CURRAN, JOANNE E. · 2012 to 2016
$8.2MDiscovery of Functional Variants in Type 2 Diabetes Genes in Mexican AmericansU01DK085524 · NIDDK · UNIVERSITY OF TEXAS RIO GRANDE VALLEY · PI BLANGERO, JOHN, DEFRONZO, RALPH A · 2009 to 2019
$5.9MNIDDM SUSCEPTIBILITY GENES IN MEXICAN-AMERICANSR01DK047482 · NIDDK · UNIVERSITY OF TEXAS HLTH SCIENCE CENTER · PI LEHMAN, DONNA M · 1993 to 2010
$5.4MCommon Genetic Variation and Quantitative Diabetes TraitsR01DK078616 · NIDDK · MASSACHUSETTS GENERAL HOSPITAL · PI MEIGS, JAMES B · 2008 to 2014
$5.0MIdentifying T2D Variants by DNA Sequencing in Multiethnic SamplesU01DK085584 · NIDDK · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI ABECASIS, GONCALO, BOEHNKE, MICHAEL L · 2009 to 2013
$4.1MDepartment of HealthMedical Research Council G0601261NCRR NIH HHS C06 RR020547NHGRI NIH HHS T32 HG000040NHLBI NIH HHS R01 HL113323NIDDK NIH HHS P30 DK020541NIDDK NIH HHS P30 DK020572NIDDK NIH HHS P30 DK020595NIDDK NIH HHS P30 DK098722NIDDK NIH HHS R01 DK047482NIDDK NIH HHS R01 DK053889NIDDK NIH HHS R01 DK078616NIDDK NIH HHS R01 DK098032NIDDK NIH HHS U01 DK078616NIDDK NIH HHS U01 DK085501NIDDK NIH HHS U01 DK085524NIDDK NIH HHS U01 DK085526NIDDK NIH HHS U01 DK085545NIDDK NIH HHS U01 DK085584NIDDK NIH HHS U01 DK105535NIGMS NIH HHS U54 GM115428Wellcome TrustWellcome Trust 090367Wellcome Trust 090532Wellcome Trust 098381
Abstract
A major challenge in evaluating the contribution of rare variants to complex disease is identifying enough copies of the rare alleles to permit informative statistical analysis. To investigate the contribution of rare variants to the risk of type 2 diabetes (T2D) and related traits, we performed deep whole-genome analysis of 1,034 members of 20 large Mexican-American families with high prevalence of T2D. If rare variants of large effect accounted for much of the diabetes risk in these families, our experiment was powered to detect association. Using gene expression data on 21,677 transcripts for 643 pedigree members, we identified evidence for large-effect rare-variant
Indexed as
Genetic VariationDiabetes Mellitus, Type 2Family HealthFemaleGene FrequencyGenetic Predisposition to DiseaseGenome-Wide Association StudyGenotypeHumansMaleMexican AmericansPedigreePhenotypeQuantitative Trait LociWhole Genome SequencingeQTLgeneticsrare variantssequencingtype 2 diabetes
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