Sex-stratified genome-wide association studies including 270,000 individuals show sexual dimorphism in genetic loci for anthropometric traits.
Joshua C Randall, Thomas W Winkler, Zoltán Kutalik, Sonja I Berndt, Anne U Jackson, Keri L Monda, Tuomas O Kilpeläinen, Tõnu Esko, Reedik Mägi, Shengxu Li and 256 more
Article in PLoS genetics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 272 papers, 18 of them syntheses that pooled it.
0numbers the graph read from it
0cells of the map it votes in
272citing papers in PubMed, 18 pooled it
28.1field-weighted citation impact, top 1% of its field
1 · What the graph read from it
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2 · The registry
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3 · Its place in the literature
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272 citing papers in PubMed, 18 syntheses or guidelines pooled it, 456 citations in OpenAlex.
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5 · Who and what money
Authors and funding
266 authors at 20 institutions in 17 countries.
Joshua C RandallWellcome Trust Sanger Institute, Hinxton, Cambridge, United Kingdom.
Thomas W Winkler
Zoltán Kutalik
Sonja I Berndt
Anne U Jackson
Keri L Monda
Tuomas O Kilpeläinen
Tõnu Esko
Reedik Mägi
Shengxu Li
Tsegaselassie Workalemahu
Mary F Feitosa
Damien C Croteau-Chonka
Felix R Day
Tove Fall
Teresa Ferreira
Stefan Gustafsson
Adam E Locke
Iain Mathieson
Andre Scherag
Sailaja Vedantam
Andrew R Wood
Liming Liang
Valgerdur Steinthorsdottir
Gudmar Thorleifsson
Emmanouil T Dermitzakis
Antigone S Dimas
Fredrik Karpe
Josine L Min
George Nicholson
Deborah J Clegg
Thomas Person
Jon P Krohn
Sabrina Bauer
Christa Buechler
Kristina Eisinger
DIAGRAM Consortium
Amélie Bonnefond
Philippe Froguel
MAGIC Investigators
Jouke-Jan Hottenga
Inga Prokopenko
Lindsay L Waite
Tamara B Harris
Albert Vernon Smith
Alan R Shuldiner
Wendy L McArdle
Mark J Caulfield
Patricia B Munroe
Henrik Grönberg
Yii-Der Ida Chen
Guo Li
Jacques S Beckmann
Toby Johnson
Unnur Thorsteinsdottir
Maris Teder-Laving
Kay-Tee Khaw
Nicholas J Wareham
Jing Hua Zhao
Najaf Amin
Ben A Oostra
Aldi T Kraja
Michael A Province
L Adrienne Cupples
Nancy L Heard-Costa
Jaakko Kaprio
Samuli Ripatti
Ida Surakka
Francis S Collins
Jouko Saramies
Jaakko Tuomilehto
Antti Jula
Veikko Salomaa
Jeanette Erdmann
Christian Hengstenberg
Christina Loley
Heribert Schunkert
Claudia Lamina
H Erich Wichmann
Eva Albrecht
Christian Gieger
Andrew A Hicks
Asa Johansson
Peter P Pramstaller
Sekar Kathiresan
Elizabeth K Speliotes
Brenda Penninx
Anna-Liisa Hartikainen
Marjo-Riitta Jarvelin
Ulf Gyllensten
Dorret I Boomsma
Harry Campbell
James F Wilson
Stephen J Chanock
Martin Farrall
Anuj Goel
Carolina Medina-Gomez
Fernando Rivadeneira
Karol Estrada
André G Uitterlinden
Albert Hofman
M Carola Zillikens
Martin den Heijer
Lambertus A Kiemeney
Andrea Maschio
Per Hall
Jonathan Tyrer
Alexander Teumer
Henry Völzke
Peter Kovacs
Anke Tönjes
Massimo Mangino
Tim D Spector
Caroline Hayward
Igor Rudan
Alistair S Hall
Nilesh J Samani
Antony Paul Attwood
Jennifer G Sambrook
Joseph Hung
Lyle J Palmer
Marja-Liisa Lokki
Juha Sinisalo
Gabrielle Boucher
Heikki Huikuri
Mattias Lorentzon
Claes Ohlsson
Niina Eklund
Johan G Eriksson
Cristina Barlassina
Carlo Rivolta
Ilja M Nolte
Harold Snieder
Melanie M Van der Klauw
Jana V Van Vliet-Ostaptchouk
Pablo V Gejman
Jianxin Shi
Kevin B Jacobs
Zhaoming Wang
Stephan J L Bakker
Irene Mateo Leach
Gerjan Navis
Pim van der Harst
Nicholas G Martin
Sarah E Medland
Grant W Montgomery
Jian Yang
Daniel I Chasman
Paul M Ridker
Lynda M Rose
Terho Lehtimäki
Olli Raitakari
Devin Absher
Carlos Iribarren
Hanneke Basart
Kees G Hovingh
Elina Hyppönen
Chris Power
Denise Anderson
John P Beilby
Jennie Hui
Jennifer Jolley
Hendrik Sager
Stefan R Bornstein
Peter E H Schwarz
Kati Kristiansson
Markus Perola
Jaana Lindström
Amy J Swift
Matti Uusitupa
Mustafa Atalay
Timo A Lakka
Rainer Rauramaa
Jennifer L Bolton
Gerry Fowkes
Ross M Fraser
Jackie F Price
Krista Fischer
Kaarel Krjutå Kov
Andres Metspalu
Evelin Mihailov
Claudia Langenberg
Jian'an Luan
Ken K Ong
Peter S Chines
Sirkka M Keinanen-Kiukaanniemi
Timo E Saaristo
Sarah Edkins
Paul W Franks
Göran Hallmans
Dmitry Shungin
Andrew David Morris
Colin N A Palmer
Raimund Erbel
Susanne Moebus
Markus M Nöthen
Sonali Pechlivanis
Kristian Hveem
Narisu Narisu
Anders Hamsten
Steve E Humphries
Rona J Strawbridge
Elena Tremoli
Harald Grallert
Barbara Thorand
Thomas Illig
Wolfgang Koenig
Martina Müller-Nurasyid
Annette Peters
Bernhard O Boehm
Marcus E Kleber
Winfried März
Bernhard R Winkelmann
Johanna Kuusisto
Markku Laakso
Dominique Arveiler
Giancarlo Cesana
Kari Kuulasmaa
Jarmo Virtamo
John W G Yarnell
Diana Kuh
Andrew Wong
Lars Lind
Ulf de Faire
Bruna Gigante
Patrik K E Magnusson
Nancy L Pedersen
George Dedoussis
Maria Dimitriou
Genovefa Kolovou
Stavroula Kanoni
Kathleen Stirrups
Lori L Bonnycastle
Inger Njølstad
Tom Wilsgaard
Andrea Ganna
Emil Rehnberg
Aroon Hingorani
Mika Kivimaki
Meena Kumari
Themistocles L Assimes
Inês Barroso
Michael Boehnke
Ingrid B Borecki
Panos Deloukas
Caroline S Fox
Timothy Frayling
Leif C Groop
Talin Haritunians
David Hunter
Erik Ingelsson
Robert Kaplan
Karen L Mohlke
Jeffrey R O'Connell
David Schlessinger
David P Strachan
Kari Stefansson
Cornelia M van Duijn
Gonçalo R Abecasis
Mark I McCarthy
Joel N Hirschhorn
Lu Qi
Ruth J F Loos
Cecilia M Lindgren
Kari E North
Iris M Heid
University of North Carolina at Chapel Hill · USBroad Institute · USCentre for Human Genetics · GBHarvard University · USBoston Children's Hospital · USKarolinska Institutet · SEErasmus MC · NLUniversity Medical Center Groningen · NLUniversity of Helsinki · FIWashington University in St. Louis · USAddenbrooke's Hospital · GBFinnish Institute for Health and Welfare · FIHelmholtz Zentrum München · DEUniversity of Tartu · EEdeCODE Genetics (Iceland) · ISNational Human Genome Research Institute · USNational Institutes of Health · USBrigham and Women's Hospital · USUniversity of Cambridge · GBWellcome Sanger Institute · GB
Funding
NIMH Center Repository Supporting Stem Cell ResearchU24MH068457 · NIMH · RUTGERS THE ST UNIV OF NJ NEW BRUNSWICK · PI BRZUSTOWICZ, LINDA M, KNOWLES, JAMES A · 2003 to 2024
$213.8M
Statistical MethodsP01CA087969 · NCI · BRIGHAM AND WOMEN'S HOSPITAL · PI TWOROGER, SHELLEY S · 2000 to 2019
$77.8M
Institute for Clinical and Translational Research (UL1)UL1RR025005 · NCRR · JOHNS HOPKINS UNIVERSITY · PI FORD, DANIEL ERNEST · 2007 to 2011
$75.8M
Type 1 Diabetes Genetics ConsortiumU01DK062418 · NIDDK · WAKE FOREST UNIVERSITY HEALTH SCIENCES · PI RICH, STEPHEN S. · 2002 to 2007
$59.8M
UCLA Clinical and Translational Science InstituteUL1TR000124 · NCATS · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI DUBINETT, STEVEN M. · 2012 to 2015
$57.0M
Transgenic & Knock-out MouseP30DK063491 · NIDDK · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI PETER J TONTONOZ · 2003 to 2026
$40.4M
Genetic analysis of type II diabetes in Finnish populationZIAHG000024 · NHGRI · NATIONAL HUMAN GENOME RESEARCH INSTITUTE · PI ERDOS, MICHAEL · 2009 to 2025
$38.2M
Risk Factors for Breast Cancer in Younger NursesR01CA050385 · NCI · HARVARD UNIVERSITY (SCH OF PUBLIC HLTH) · PI ELIASSEN, A. HEATHER, WILLETT, WALTER C. · 1989 to 2019
$32.3M
Women's Health Study: Continued Follow-upR01CA047988 · NCI · BRIGHAM AND WOMEN'S HOSPITAL · PI BURING, JULIE E., LEE, I-MIN · 1991 to 2014
$28.2M
Pharmacogenomics and Risk of Cardiovascular DiseaseU01HL069757 · NHLBI · UNIVERSITY OF CALIF-LAWRENC BERKELEY LAB · PI KRAUSS, RONALD M · 2001 to 2009
$24.7M
Regional Pilot And Feasibility Study Grants ProgramP30DK020572 · NIDDK · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI Mehboob A Hussain · 2013 to 2026
$24.3M
Genome-Wide Association Analysis in Essential Hypertension (FEHGAS study)R01HL086694 · NHLBI · NEW YORK UNIVERSITY SCHOOL OF MEDICINE · PI ARAVINDA CHAKRAVARTI · 2007 to 2026
Given the anthropometric differences between men and women and previous evidence of sex-difference in genetic effects, we conducted a genome-wide search for sexually dimorphic associations with height, weight, body mass index, waist circumference, hip circumference, and waist-to-hip-ratio (133,723 individuals) and took forward 348 SNPs into follow-up (additional 137,052 individuals) in a total of 94 studies. Seven loci displayed significant sex-difference (FDR<5%), including four previously established (near GRB14/COBLL1, LYPLAL1/SLC30A10, VEGFA, ADAMTS9) and three novel anthropometric trait loci (near MAP3K1, HSD17B4, PPARG), all of which were genome-wide significant in women (P<5×10(-8)), but not in men. Sex-differences were apparent only for waist phenotypes, not for height, weight, BMI, or hip circumference. Moreover, we found no evidence for genetic effects with opposite directions in men versus women. The PPARG locus is of specific interest due to its role in diabetes genetics and therapy. Our results demonstrate the value of sex-specific GWAS to unravel the sexually dimorphic genetic underpinning of complex traits.
Indexed as
Body Weights and MeasuresGenome-Wide Association StudySex CharacteristicsAnthropometryBody HeightBody Mass IndexBody WeightFemaleGenetic LociGenome, HumanHumansMalePolymorphism, Single NucleotideWaist CircumferenceWaist-Hip Ratio
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.
Sex-stratified genome-wide association studies including 270,000 individuals show sexual dimorphism in genetic loci for anthropometric traits. · full record | OpenQuestion