Evidence map›Paper›PMID 22843499›Full record

SynthesisHuman molecular genetics2012

Genome-wide meta-analysis of common variant differences between men and women.

Vesna Boraska, Ana Jerončić, Vincenza Colonna, Lorraine Southam, Dale R Nyholt, Nigel William Rayner, John R B Perry, Daniela Toniolo, Eva Albrecht, Wei Ang and 118 more

Abstract readMeta-Analysis
In one paragraph

Synthesis in Human molecular genetics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
28citing papers in PubMed, 1 pooled it
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

28 citing papers in PubMed, 1 synthesis or guideline pooled it.

  1. Pooled it
  2. Article
  3. Sex-Specific Genetic Architecture and Comorbidities of Alcohol Use Behaviors.medRxiv : the preprint server for health sciences · 2025
    Article
  4. Article
  5. Article
  6. Article
  7. Article
  8. Article
  9. Review
  10. Review
  11. Article
  12. Article
  13. Article
  14. Article
  15. Article
  16. Article
  17. Common Susceptibility Loci for Male Breast Cancer.Journal of the National Cancer Institute · 2021
    Article
  18. Article
  19. Article
  20. Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

128 authors.

Vesna BoraskaWellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, UK. vboraska@mefst.hr
Ana Jerončić
Vincenza Colonna
Lorraine Southam
Dale R Nyholt
Nigel William Rayner
John R B Perry
Daniela Toniolo
Eva Albrecht
Wei Ang
Stefania Bandinelli
Maja Barbalic
Inês Barroso
Jacques S Beckmann
Reiner Biffar
Dorret Boomsma
Harry Campbell
Tanguy Corre
Jeanette Erdmann
Tõnu Esko
Krista Fischer
Nora Franceschini
Timothy M Frayling
Giorgia Girotto
Juan R Gonzalez
Tamara B Harris
Andrew C Heath
Iris M Heid
Wolfgang Hoffmann
Albert Hofman
Momoko Horikoshi
Jing Hua Zhao
Anne U Jackson
Jouke-Jan Hottenga
Antti Jula
Mika Kähönen
Kay-Tee Khaw
Lambertus A Kiemeney
Norman Klopp
Zoltán Kutalik
Vasiliki Lagou
Lenore J Launer
Terho Lehtimäki
Mathieu Lemire
Marja-Liisa Lokki
Christina Loley
Jian'an Luan
Massimo Mangino
Irene Mateo Leach
Sarah E Medland
Evelin Mihailov
Grant W Montgomery
Gerjan Navis
John Newnham
Markku S Nieminen
Aarno Palotie
Kalliope Panoutsopoulou
Annette Peters
Nicola Pirastu
Ozren Polasek
Karola Rehnström
Samuli Ripatti
Graham R S Ritchie
Fernando Rivadeneira
Antonietta Robino
Nilesh J Samani
So-Youn Shin
Juha Sinisalo
Johannes H Smit
Nicole Soranzo
Lisette Stolk
Dorine W Swinkels
Toshiko Tanaka
Alexander Teumer
Anke Tönjes
Michela Traglia
Jaakko Tuomilehto
Armand Valsesia
Wiek H van Gilst
Joyce B J van Meurs
Albert Vernon Smith
Jorma Viikari
Jacqueline M Vink
Gerard Waeber
Nicole M Warrington
Elisabeth Widen
Gonneke Willemsen
Alan F Wright
Brent W Zanke
Lina Zgaga
Wellcome Trust Case Control Consortium
Michael Boehnke
Adamo Pio d'Adamo
Eco de Geus
Ellen W Demerath
Martin den Heijer
Johan G Eriksson
Luigi Ferrucci
Christian Gieger
Vilmundur Gudnason
Caroline Hayward
Christian Hengstenberg
Thomas J Hudson
Marjo-Riitta Järvelin
Manolis Kogevinas
Ruth J F Loos
Nicholas G Martin
Andres Metspalu
Craig E Pennell
Brenda W Penninx
Markus Perola
Olli Raitakari
Veikko Salomaa
Stefan Schreiber
Heribert Schunkert
Tim D Spector
Michael Stumvoll
André G Uitterlinden
Sheila Ulivi
Pim van der Harst
Peter Vollenweider
Henry Völzke
Nicholas J Wareham
H-Erich Wichmann
James F Wilson
Igor Rudan
Yali Xue
Eleftheria Zeggini

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
Institute for Clinical and Translational Research (UL1)UL1RR025005 · NCRR · JOHNS HOPKINS UNIVERSITY · PI FORD, DANIEL ERNEST · 2007 to 2011
$75.8M
Regional Pilot And Feasibility Study Grants ProgramP30DK020572 · NIDDK · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI Mehboob A Hussain · 2013 to 2026
$24.3M
THE ROLE OF CAL IN CIF-MEDIATED DEGRADATION OF CFTRP20RR018787 · NCRR · DARTMOUTH COLLEGE · PI GERBER, SCOTT · 2003 to 2011
$21.9M
Genome-Wide Association Analysis in Essential Hypertension (FEHGAS study)R01HL086694 · NHLBI · NEW YORK UNIVERSITY SCHOOL OF MEDICINE · PI ARAVINDA CHAKRAVARTI · 2007 to 2026
$21.2M
Epidemiology of Venous Thrombosis & Pulmonary EmbolismR01HL059367 · NHLBI · UNIVERSITY OF MINNESOTA TWIN CITIES · PI TANG, WEIHONG · 1998 to 2024
$11.8M
Identifying Genes for Type 2 Diabetes: FUSIONU01DK062370 · NIDDK · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI BOEHNKE, MICHAEL L, SCOTT, LAURA J. · 2009 to 2021
$11.6M
Identifying Genes for Type 2 Diabetes:FUSIONR01DK062370 · NIDDK · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI BOEHNKE, MICHAEL L, SCOTT, LAURA J. · 2003 to 2025
$6.7M
CLINICAL PROJECT: Age, Gene/Environment Susceptibility Study on the Multi-omics of Aging: A clinical epidemiologic prospective studyZIAAG007380 · NIA · NATIONAL INSTITUTE ON AGING · PI LAUNER, LENORE J · 2009 to 2025
$6.1M
Bioinformatics Strategies for Genome-Wide Association StudiesR01LM010098 · NLM · UNIVERSITY OF PENNSYLVANIA · PI MOORE, JASON H., WILLIAMS, SCOTT MATTHEW · 2009 to 2023
$5.1M
Molecular Epidemiology of Alcoholism 3 - EDAC FamiliesR01AA013321 · NIAAA · WASHINGTON UNIVERSITY · PI HEATH, ANDREW C. · 2001 to 2005
$4.3M
Genome-Wide Association for Loci Influencing CHD and Other Heart, Lung and BloodR01HL087641 · NHLBI · UNIVERSITY OF TEXAS HLTH SCI CTR HOUSTON · PI BOERWINKLE, ERIC A. · 2006 to 2008
$3.7M
Cancer Research UKChief Scientist Office CZB/4/710CIHR MOP-82893Intramural NIH HHSMedical Research Council G0401527Medical Research Council G0600717Medical Research Council G1000143Medical Research Council G1001799Medical Research Council MC_PC_U127561128Medical Research Council MC_U106179471Medical Research Council MC_U127561128NCRR NIH HHS P20 RR018787NCRR NIH HHS RR018787NCRR NIH HHS UL1 RR025005NCRR NIH HHS UL1RR025005NHGRI NIH HHS U01 HG004402NHGRI NIH HHS U01HG004402NHLBI 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 HL65234NHLBI NIH HHS HL67466NHLBI NIH HHS R01 HL059367NHLBI NIH HHS R01 HL065234NHLBI NIH HHS R01 HL067466NHLBI NIH HHS R01 HL086694NHLBI NIH HHS R01HL086694NHLBI NIH HHS R01 HL087641NHLBI NIH HHS R01HL087641NHLBI NIH HHS R01HL59367NIAAA NIH HHS AA10248NIAAA NIH HHS AA13320NIAAA NIH HHS AA13321NIAAA NIH HHS AA13326NIAAA NIH HHS AA14041NIAAA NIH HHS K05 AA017688NIAAA NIH HHS R01 AA007535NIAAA NIH HHS R01 AA013320NIAAA NIH HHS R01 AA013321NIAAA NIH HHS R01 AA013326NIAAA NIH HHS R01 AA014041NIA NIH HHS N01-AG-1-2100NIA NIH HHS N01-AG-5-0002NIA NIH HHS N.1-AG-1-1NIA NIH HHS N.1-AG-1-2111NIDDK NIH HHS DK062370NIDDK NIH HHS P30 DK020572NIDDK NIH HHS R01 DK062370NIDDK NIH HHS R56 DK062370NIDDK NIH HHS U01 DK062370NIMHD NIH HHS R01 MD009164NIMH NIH HHS MH081802NIMH NIH HHS MH66206NIMH NIH HHS R01 MH059160NIMH NIH HHS R01 MH062633NIMH NIH HHS R01 MH066206NIMH NIH HHS R01 MH081802NIMH NIH HHS U24 MH068457NIMH NIH HHS U24 MH068457-06NLM NIH HHS LM010098NLM NIH HHS R01 LM010098Wellcome Trust 076113Wellcome Trust 089062/Z/09/ZWellcome Trust 092447/Z/10/ZWellcome Trust 095831Wellcome Trust 098051Wellcome Trust 89061/Z/09/Z
6 · The paper itself

Abstract

The male-to-female sex ratio at birth is constant across world populations with an average of 1.06 (106 male to 100 female live births) for populations of European descent. The sex ratio is considered to be affected by numerous biological and environmental factors and to have a heritable component. The aim of this study was to investigate the presence of common allele modest effects at autosomal and chromosome X variants that could explain the observed sex ratio at birth. We conducted a large-scale genome-wide association scan (GWAS) meta-analysis across 51 studies, comprising overall 114 863 individuals (61 094 women and 53 769 men) of European ancestry and 2 623 828 common (minor allele frequency >0.05) single-nucleotide polymorphisms (SNPs). Allele frequencies were compared between men and women for directly-typed and imputed variants within each study. Forward-time simulations for unlinked, neutral, autosomal, common loci were performed under the demographic model for European populations with a fixed sex ratio and a random mating scheme to assess the probability of detecting significant allele frequency differences. We do not detect any genome-wide significant (P < 5 × 10(-8)) common SNP differences between men and women in this well-powered meta-analysis. The simulated data provided results entirely consistent with these findings. This large-scale investigation across ~115 000 individuals shows no detectable contribution from common genetic variants to the observed skew in the sex ratio. The absence of sex-specific differences is useful in guiding genetic association study design, for example when using mixed controls for sex-biased traits.

Indexed as

Genome-Wide Association StudyModels, GeneticPolymorphism, Single NucleotideSex FactorsFemaleGene FrequencyHumansMaleSexismSex RatioWhite People

Identifiers

PMID22843499
PMCPMC3471397

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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.