Evidence map›Paper›PMID 30456828›Full record

ArticleAmerican journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics2019

Sex differences in the genetic architecture of obsessive-compulsive disorder.

Ekaterina A Khramtsova, Raphael Heldman, Eske M Derks, Dongmei Yu, Tourette Syndrome/Obsessive-Compulsive Disorder Working Group of the Psychiatric Genomics Consortium, Lea K Davis, Barbara E Stranger

Open access · greenAbstract read
In one paragraph

Article in American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 34 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
34citing papers in PubMed, 1 pooled it
8.0field-weighted citation impact, top 2% of its field
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

34 citing papers in PubMed, 1 synthesis or guideline pooled it, 57 citations in OpenAlex.

  1. Pooled it
  2. Article
  3. Article
  4. Review
  5. Article
  6. Molecular Mechanism of theAnimals : an open access journal from MDPI · 2025
    Article
  7. Review
  8. Multivariate genetic architecture reveals testosterone-driven sexual antagonism in contemporary humans.Proceedings of the National Academy of Sciences of the United States of America · 2024
    Article
  9. Article
  10. Article
  11. Article
  12. Article
  13. Article
  14. Article
  15. Article
  16. Article
  17. Article
  18. Genetics of obsessive-compulsive disorder.Psychological medicine · 2021
    Review
  19. Article
  20. Article
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

7 authors at 5 institutions in 2 countries.

Ekaterina A KhramtsovaSection of Genetic Medicine, Department of Medicine, University of Chicago, Chicago, Illinois.ORCID 0000-0003-4687-454X
Raphael HeldmanUniversity of California, Berkeley, California.
Eske M DerksQueensland Institute of Medical Research, Brisbane, Australia.
Dongmei YuPsychiatric and Neurodevelopmental Genetics Unit, Center for Genomic Medicine, Department of Psychiatry, Harvard Medical School, Massachusetts General Hospital, Boston, Massachusetts.
Tourette Syndrome/Obsessive-Compulsive Disorder Working Group of the Psychiatric Genomics Consortium
Lea K DavisVanderbilt Genetics Institute; Vanderbilt University Medical Center, Nashville, Tennessee.
Barbara E StrangerSection of Genetic Medicine, Department of Medicine, University of Chicago, Chicago, Illinois.
University of Chicago · USHarvard University · USQIMR Berghofer Medical Research Institute · AUUniversity of California, Berkeley · USVanderbilt University Medical Center · US

Funding

Re-Engineering Translational Research at the University of ChicagoUL1TR000430 · NCATS · UNIVERSITY OF CHICAGO · PI SOLWAY, JULIAN · 2012 to 2016
$20.2M
Modeling the temporal succession of phenotypes & environnnental cuesP50MH094267 · NIMH · UNIVERSITY OF CHICAGO · PI RZHETSKY, ANDREY · 2011 to 2015
$10.2M
A GENETIC LINKAGE STUDY OF GTSR01NS040024 · NINDS · TOURETTE SYNDROME ASSOCIATION, INC · PI PAULS, DAVID L · 2000 to 2004
$9.5M
A Genetic Linkage Study of GTSU01NS040024 · NINDS · TOURETTE ASSOCIATION OF AMERICA, INC. · PI SCHARF, JEREMIAH M · 2007 to 2012
$8.0M
OCD Collaborative Genetics Association StudyR01MH071507 · NIMH · JOHNS HOPKINS UNIVERSITY · PI NESTADT, GERALD · 2007 to 2010
$6.5M
TRAINING THE SCIENCE OF CHILD MENTAL HEALTH TREATMENTT32MH073517 · NIMH · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI SUMA JACOB, John C. Piacentini · 2006 to 2026
$5.2M
2/7 Psychiatric Genomics Consortium: Finding Actionable VariationU01MH109539 · NIMH · MASSACHUSETTS GENERAL HOSPITAL · PI DALY, MARK JOSEPH · 2016 to 2020
$4.7M
Obsessive-compulsive disorder (OCD) Collaborative Genetics Association StudyR01MH079489 · NIMH · MASSACHUSETTS GENERAL HOSPITAL · PI GELLER, DANIEL A · 2007 to 2010
$3.4M
3/7 Psychiatric Genomics Consortium: Finding actionable variationU01MH109536 · NIMH · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI CHARNEY, ALEXANDER W, HUCKINS, LAURA MARIANNE · 2016 to 2020
$2.7M
1/7 Psychiatric Genomics Consortium: Finding actionable variationU01MH109528 · NIMH · UNIV OF NORTH CAROLINA CHAPEL HILL · PI SULLIVAN, PATRICK F · 2016 to 2020
$2.5M
Developing Stats Methods to Detect Rare Genetics Variants in Human PedigreesZIAMH002930 · NIMH · NATIONAL INSTITUTE OF MENTAL HEALTH · PI YAO, YIN · 2011 to 2016
$1.6M
Translational phenomics and genomics of Gilles de la Tourette SyndromeK23MH085057 · NIMH · MASSACHUSETTS GENERAL HOSPITAL · PI SCHARF, JEREMIAH M · 2009 to 2013
$929k
Intramural NIH HHS ZIA MH002930NCATS NIH HHS UL1 TR000430NIMH NIH HHS K23 MH085057NIMH NIH HHS P50 MH094267NIMH NIH HHS R01 MH071507NIMH NIH HHS R01 MH079487NIMH NIH HHS R01 MH079488NIMH NIH HHS R01 MH079489NIMH NIH HHS R01 MH079494NIMH NIH HHS R13 MH073250NIMH NIH HHS R21 MH087748NIMH NIH HHS T32 MH073517NIMH NIH HHS U01 MH109528NIMH NIH HHS U01 MH109536NIMH NIH HHS U01 MH109539NINDS NIH HHS R01 NS040024NINDS NIH HHS U01 NS040024
6 · The paper itself

Abstract

Obsessive-compulsive disorder (OCD) is a highly heritable complex phenotype that demonstrates sex differences in age of onset and clinical presentation, suggesting a possible sex difference in underlying genetic architecture. We present the first genome-wide characterization of the sex-specific genetic architecture of OCD, utilizing the largest set of OCD cases and controls available from the Psychiatric Genomics Consortium. We assessed evidence for several mechanisms that may contribute to sex differences including a sex-dependent liability threshold, the presence of individual sex-specific risk variants on the autosomes and the X chromosome, and sex-specific pleiotropic effects. Furthermore, we tested the hypothesis that genetic heterogeneity between the sexes may obscure associations in a sex-combined genome-wide association study. We observed a strong genetic correlation between male and female OCD and no evidence for a sex-dependent liability threshold model, suggesting that sex-combined analysis does not suffer from widespread loss of power because of genetic heterogeneity between the sexes. While we did not detect any significant sex-specific genome-wide single nucleotide polymorphisms (SNP) associations, we did identify two significant gene-based associations in females: GRID2 and GRP135, which showed no association in males. We observed that the SNPs with sexually differentiated effects showed an enrichment of regulatory variants influencing expression of genes in brain and immune tissues. These findings suggest that future studies with larger sample sizes hold great promise for the identification of sex-specific genetic risk factors for OCD.

Indexed as

Sex FactorsAdultCase-Control StudiesDatabases, GeneticFemaleGenetic Predisposition to DiseaseGenome-Wide Association StudyGenomicsHumansMaleObsessive-Compulsive DisorderPhenotypePolymorphism, Single NucleotideReceptors, Glutamateglutamate receptor delta 2Receptors, Glutamategeneticsgenome-wide association studyobsessive compulsive disordersex differencessex-specific analysissex-specific genetic architecture

Identifiers

PMID30456828
PMCPMC6527502
OpenAlexW2950198531

What OpenQuestion holds

Textmetadata
LicenceTDM
Read underepoch 390

Registered trials

None linked

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.