Sex differences in the genetic architecture of obsessive-compulsive disorder.
paper
Cited
Public
- Authors
- Khramtsova, Ekaterina A; Heldman, Raphael; Derks, Eske M; Yu, Dongmei; Tourette Syndrome/Obsessive-Compulsive Disorder Working Group of the Psychiatric Genomics Consortium; Davis, Lea K; Stranger, Barbara E
- Year
- 2019
- Journal
- American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics
- PMID
- 30456828
- DOI
- 10.1002/ajmg.b.32687
- PMCID
- PMC6527502
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.
Manhattan and quantile-quantile plots for sex-stratified meta-GWAS. Meta-GWAS was run separately for females (1525 cases and 4307 controls) and males (1249 cases and 2789 controls) on ~5.5 million imputed SNPs (MAF>5%). (A) The peaks pointing up on the plot are the results for female analysis and the peaks pointing down are the results for male analysis. Although not genome-wide significant, several suggestive peaks can be observed in one sex and not observed in the other. (B) Quantile-quantile plot for sex-stratified and combined meta-GWAS. (C) Scatter plot of -log10(p-value) for female OCD assications (x-axis) versus male OCD associations (y-axis). Contour lines colored from red to blue indicate decreasing data density.
eQTL enrichment in the brain and immune tissues for combined, female-specific, male-specific top associations (10−3) and SNPs with Sexually Differentiated Effect SNPs (SDEs), excluding and including SNPs in the HLA region. Only variants with more than 500 individuals in the GWAS are included here. Light green bars represent each immune tissue or cell type: whole blood, monocytes, and cd4+ T cells, while the dark green represents enrichment in a combination of the three immune tissues. Light blue bars represent each brain tissue, while the dark blue represents enrichment in a combination of ten brain tissues, or all ten brain tissues minus cerebellum. The black dashed line represents a p-value of 0.05. The red dashed line represents the significant p-value threshold (0.00357) after accounting for 14 eQTL datasets tested.
1–20 of 43
Next →
| Name | Type |
|---|---|
| 1000 Genomes Project | cohort |
| 1000 Genomes Project Phase 3 European population local | cohort |
| 10 regions of the brain local | anatomy |
| Accumbens Volume local | anatomy |
| ADHD | phenotype |
| adult-onset OCD local | phenotype |
| affected individuals | cohort |
| age at first birth | phenotype |
| alcohol | phenotype |
| alcohol dependence | phenotype |
| Amygdala Volume local | anatomy |
| anorexia nervosa | phenotype |
| anterior cingulate cortex | anatomy |
| anxiety | phenotype |
| ASD | phenotype |
| ASDEs local | phenotype |
| Ashkenazi Jewish ancestry | cohort |
| attention deficit hyperactivity disorder | phenotype |
| autism | phenotype |
| autism spectrum disorder | phenotype |
| autosomal SNPs | cohort |
| behavioral traits | phenotype |
| binary trait | phenotype |
| bipolar disorder | phenotype |
| BMI | phenotype |
| body mass index | phenotype |
| body weight | phenotype |
| brain | anatomy |
| brain cortex tissue local | anatomy |
| Brainstorm Consortium | cohort |
| brain structure | anatomy |
| Brain structure volumes local | anatomy |
| brain tissue | anatomy |
| Brain volumes local | phenotype |
| Cappi 2016 whole-exome sequencing study local | cohort |
| Case/control dataset local | cohort |
| caudate nucleus | anatomy |
| cerebellum | anatomy |
| Childbirth local | phenotype |
| cognition | phenotype |
| combined GWAS analysis local | cohort |
| Combined OCD sample local | cohort |
| common variants | cohort |
| Contamination and cleaning compulsions local | phenotype |
| controls | cohort |
| Davis et al. 2013 local | cohort |
| de novo nonsynonymous SNVs local | variant |
| depressive symptoms | phenotype |
| Dutch ancestry local | cohort |
| early-onset OCD local | phenotype |
| eating disorders | phenotype |
| educational attainment | phenotype |
| employment | phenotype |
| endometriosis local | phenotype |
| eQTLGen Consortium | cohort |
| European ancestry | cohort |
| European catalogue of 1000 Genomes SNPs local | cohort |
| European population | cohort |
| female-specific meta-analysis local | cohort |
| frontal cortex | anatomy |
| gene | gene |
| genotype-sex interaction test local | phenotype |
| GIANT consortium | cohort |
| GPR135 local | gene |
| Grid2 | gene |
| GTEx v7 | cohort |
| GWAS results local | phenotype |
| HapMap3 | cohort |
| height | phenotype |
| HIPadjBMI local | phenotype |
| hip circumference | phenotype |
| Hippocampal volume | anatomy |
| HLA | gene |
| immune function | phenotype |
| immune tissue local | anatomy |
| insomnia | phenotype |
| International Obsessive Compulsive Disorder Foundation Genetics Collaborative local | cohort |
| intracranial volume | anatomy |
| IOCDF-GC | cohort |
| IOCDF-GC/OCGAS 2017 GWAS local | cohort |
| lead SNP | cohort |
| MAF differences between sexes local | phenotype |
| major depressive disorder | phenotype |
| Major Depressive Disorder Working Group of the Psychiatric GWAS Consortium local | cohort |
| male-specific meta-analysis local | cohort |
| marital status | phenotype |
| Mathis et al 2011 cohort local | cohort |
| Mattheisen et al. 2015 GWAS local | cohort |
| menopausal status | phenotype |
| meta-analysis | cohort |
| MHC region | gene |
| Nestadt et al 2010 cohort local | cohort |
| Neurodegenerative traits local | phenotype |
| neuroticism | phenotype |
| nucleus accumbens | anatomy |
| null matched SNP sets local | variant |
| number of children ever born | phenotype |
| obsessive-compulsive disorder | phenotype |
| Obsessive-compulsive symptoms | phenotype |
| OCD | phenotype |
| OCD-associated SNPs local | variant |
| OCD Collaborative Genetics Association Studies local | cohort |
| OCD probands | cohort |
| OCD Psychiatric Genomics Consortium sample local | cohort |
| OCD SDEs local | phenotype |
| OCGAS | cohort |
| Pallidum Volume local | anatomy |
| parietal cortex | anatomy |
| physical abuse | phenotype |
| Post-Traumatic Stress Disorder | phenotype |
| pregnancy | phenotype |
| Premenstrual period local | phenotype |
| Proband cases local | cohort |
| Pseudo-controls local | cohort |
| Psychiatric Genomics Consortium | cohort |
| Psychiatric GWAS Consortium Bipolar Disorder Working Group local | cohort |
| psychiatric traits | phenotype |
| putamen | anatomy |
| Putamen Volume local | anatomy |
| Religious symptoms local | phenotype |
| Reproductive behavior | phenotype |
| schizophrenia | phenotype |
| Schizophrenia Working Group of the Psychiatric Genomics Consortium 2014 local | cohort |
| SDE local | variant |
| SDEs local | phenotype |
| SDEs local | variant |
| sex | phenotype |
| sex as covariate local | phenotype |
| sex-stratified analysis local | phenotype |
| sex-stratified GWAS analysis local | cohort |
| Sex-stratified GWAS analysis local | cohort |
| Sex-stratified OCD samples local | cohort |
| Sexually Differentiated Effect local | phenotype |
| Sexually Differentiated Effects local | variant |
| Sexual symptoms local | phenotype |
| smoking | phenotype |
| SNP | cohort |
| South African ancestry local | cohort |
| Stewart et al. 2013 GWAS local | cohort |
| Stewart et al. 2013 OCD GWAS local | cohort |
| subjective well-being | phenotype |
| Symmetry symptoms local | phenotype |
| Thalamus Volume local | anatomy |
| Tobacco and Genetics Consortium | cohort |
| Tobacco Usage local | phenotype |
| Tourette syndrome | phenotype |
| Trio data local | cohort |
| Trio samples local | cohort |
| variant | cohort |
| waist circumference | phenotype |
| waist-to-hip ratio | phenotype |
| WCadjBMI local | phenotype |
| WHRadjBMI local | phenotype |
| X chromosome | drug |
| X chromosome SNPs local | variant |
| Z-score p-values local | phenotype |
No uploaded files.
Not in any collection.
| Citation | PMID | DOI | Status |
|---|---|---|---|
| AdamsHieab H. H., HibarDerrek P., ChourakiVincent, SteinJason L., NyquistPaul A., RenteríaMiguel E., TrompetStella, 2016 “Novel Genetic Loci Underlying Human Intracranial Volume Identified through Genome-Wide Association.” Nature Neuroscience 19 (12): 1569–82.2769499110.1038/nn.4398PMC5227112 | — | — | — |
| BarbanNicola, JansenRick, Ronald de VlamingAhmad Vaez, MandemakersJornt J., TropfFelix C., ShenXia, 2016 “Genome-Wide Analysis Identifies 12 Loci Influencing Human Reproductive Behavior.” Nature Genetics 48 (12): 1462–72.2779862710.1038/ng.3698PMC5695684 | — | — | — |
| BellodiL, SciutoG, DiaferiaG, RonchiP, and SmeraldiE. 1992 “Psychiatric Disorders in the Families of Patients with Obsessive-Compulsive Disorder.” Psychiatry Research 42 (2): 111–20.163124810.1016/0165-1781(92)90075-e | — | — | — |
| BoileauBernard. 2011 “A Review of Obsessive-Compulsive Disorder in Children and Adolescents.” Dialogues in Clinical Neuroscience 13 (4): 401–11.2227584610.31887/DCNS.2011.13.4/bboileauPMC3263388 | — | — | — |
| BoraskaV, FranklinCS, FloydJAB, ThorntonLM, HuckinsLM, SouthamL, RaynerNW, 2014 “A Genome-Wide Association Study of Anorexia Nervosa.” Molecular Psychiatry 19 (10): 1085–94.2451456710.1038/mp.2013.187PMC4325090 | — | — | — |
| BrownMorton B. 1975 “400: A Method for Combining Non-Independent, One-Sided Tests of Significance.” Biometrics 31 (4): 987–92. | — | — | — |
| Bulik-SullivanBrendan K., LohPo-Ru, FinucaneHilary K., RipkeStephan, YangJian, Schizophrenia Working Group of the Psychiatric Genomics Consortium, PattersonNick, DalyMark J., PriceAlkes L., and NealeBenjamin M.. 2015 “LD Score Regression Distinguishes Confounding from Polygenicity in Genome-Wide Association Studies.” Nature Genetics 47 (3): 291–95.2564263010.1038/ng.3211PMC4495769 | — | — | — |
| Bulik-SullivanBrendan, FinucaneHilary K., AnttilaVerneri, GusevAlexander, DayFelix R., LohPo-Ru, ConsortiumReproGen, 2015 “An Atlas of Genetic Correlations across Human Diseases and Traits.” Nature Genetics 47 (11): 1236–41.2641467610.1038/ng.3406PMC4797329 | — | — | — |
| CappiC, BrentaniH, LimaL, SandersSJ, ZaiG, DinizBJ, ReisVNS, 2016 “Whole-Exome Sequencing in Obsessive-Compulsive Disorder Identifies Rare Mutations in Immunological and Neurodevelopmental Pathways.” Translational Psychiatry 6 (3): e764.2702317010.1038/tp.2016.30PMC4872454 | — | — | — |
| CarapetisJR, and CurrieBJ. 1999 “Rheumatic Chorea in Northern Australia: A Clinical and Epidemiological Study.” Archives of Disease in Childhood 80 (4): 353–58.1008694310.1136/adc.80.4.353PMC1717891 | — | — | — |
| ClarkeT-K, AdamsMJ, DaviesG, HowardDM, HallLS, PadmanabhanS, MurrayAD, 2017 “Genome-Wide Association Study of Alcohol Consumption and Genetic Overlap with Other Health-Related Traits in UK Biobank (N=112 117).” Molecular Psychiatry 22 (10): 1376–84.2893769310.1038/mp.2017.153PMC5622124 | — | — | — |
| ConsortiumBrainstorm, AnttilaVerneri, Brendan Bulik-SullivanHilary K. Finucane, WaltersRaymond K., BrasJose, DuncanLaramie, 2018 “Analysis of Shared Heritability in Common Disorders of the Brain.” Science 360 (6395). 10.1126/science.aap8757.PMC609723729930110 | — | — | — |
| DavisLea K., YuDongmei, KeenanClare L., GamazonEric R., KonkashbaevAnuar I., DerksEske M., NealeBenjamin M., 2013 “Partitioning the Heritability of Tourette Syndrome and Obsessive Compulsive Disorder Reveals Differences in Genetic Architecture.” PLoS Genetics 9 (10): e1003864.2420429110.1371/journal.pgen.1003864PMC3812053 | — | — | — |
| de LeeuwChristiaan A., MooijJoris M., HeskesTom, and PosthumaDanielle. 2015 “MAGMA: Generalized Gene-Set Analysis of GWAS Data.” PLoS Computational Biology 11 (4): e1004219.2588571010.1371/journal.pcbi.1004219PMC4401657 | — | — | — |
| de MathisMaria Alice, de AlvarengaPedro, FunaroGuilherme, TorresanRicardo Cezar, MoraesIvanil, TorresAlbina Rodrigues, ZilbermanMonica L., and HounieAna Gabriela. 2011 “Gender Differences in Obsessive-Compulsive Disorder: A Literature Review.” Revista Brasileira de Psiquiatria 33 (4): 390–99.2218993010.1590/s1516-44462011000400014 | — | — | — |
| DelaneauOlivier, ZaguryJean-Francois, and MarchiniJonathan. 2013 “Improved Whole-Chromosome Phasing for Disease and Population Genetic Studies.” Nature Methods 10 (1): 5–6.2326937110.1038/nmeth.2307 | — | — | — |
| den BraberA, ZilhãoNR, FedkoIO, HottengaJ-J, PoolR, SmitDJA, CathDC, and BoomsmaDI. 2016 “Obsessive–compulsive Symptoms in a Large Population-Based Twin-Family Sample Are Predicted by Clinically Based Polygenic Scores and by Genome-Wide SNPs.” Translational Psychiatry 6 (2): e731.2685981410.1038/tp.2015.223PMC4872426 | — | — | — |
| DuncanLE, RatanatharathornA, AielloAE, AlmliLM, AmstadterAB, Ashley-KochAE, BakerDG, 2017 “Largest GWAS of PTSD (N=20 070) Yields Genetic Overlap with Schizophrenia and Sex Differences in Heritability.” Molecular Psychiatry, 4 10.1038/mp.2017.77.PMC569610528439101 | — | — | — |
| FlamentMF, KobyE, RapoportJL, BergCJ, ZahnT, CoxC, DencklaM, and LenaneM. 1990 “Childhood Obsessive-Compulsive Disorder: A Prospective Follow-up Study.” Journal of Child Psychology and Psychiatry, and Allied Disciplines 31 (3): 363–80.10.1111/j.1469-7610.1990.tb01575.x2318919 | — | — | — |
| FurtadoMelissa, and KatzmanMartin A.. 2015a “Examining the Role of Neuroinflammation in Major Depression.” Psychiatry Research 229 (1–2): 27–36.2618733810.1016/j.psychres.2015.06.009 | — | — | — |
| GaoFeng, ChangDiana, BiddandaArjun, MaLi, GuoYingjie, ZhouZilu, and KeinanAlon. 2015 “XWAS: A Software Toolset for Genetic Data Analysis and Association Studies of the X Chromosome.” The Journal of Heredity 106 (5): 666–71.2626824310.1093/jhered/esv059PMC4567842 | — | — | — |
| GraybielAM, and RauchSL. 2000 “Toward a Neurobiology of Obsessive-Compulsive Disorder.” Neuron 28 (2): 343–47.1114434410.1016/s0896-6273(00)00113-6 | — | — | — |
| Grootheest, vanDaniël S., CathDaniëlle C., BeekmanAartjan T., and BoomsmaDorret I.. 2005 “Twin Studies on Obsessive–Compulsive Disorder: A Review.” Twin Research and Human Genetics: The Official Journal of the International Society for Twin Studies 8 (5): 450–58.1621283410.1375/183242705774310060 | — | — | — |
| GTEx Consortium, Laboratory, Data Analysis &Coordinating Center (LDACC)—Analysis Working Group, Statistical Methods groups—Analysis Working Group, Enhancing GTEx (eGTEx) groups, NIH Common Fund, NIH/NCI, NIH/NHGRI, 2017 “Genetic Effects on Gene Expression across Human Tissues.” Nature 550 (7675): 204–13.2902259710.1038/nature24277PMC5776756 | — | — | — |
| HammerschlagAnke R., StringerSven, de LeeuwChristiaan A., SniekersSuzanne, TaskesenErdogan, WatanabeKyoko, BlankenTessa F., 2017 “Genome-Wide Association Analysis of Insomnia Complaints Identifies Risk Genes and Genetic Overlap with Psychiatric and Metabolic Traits.” Nature Genetics 49 (11): 1584–92.2860473110.1038/ng.3888PMC5600256 | — | — | — |
| HanBuhm, and EskinEleazar. 2011 “Random-Effects Model Aimed at Discovering Associations in Meta-Analysis of Genome-Wide Association Studies.” American Journal of Human Genetics 88 (5): 586–98.2156529210.1016/j.ajhg.2011.04.014PMC3146723 | — | — | — |
| HartialaJaana A., Wilson TangWH, WangZeneng, CrowAmanda L., StewartAlexandre F. R., RobertsRobert, McPhersonRuth, 2016 “Genome-Wide Association Study and Targeted Metabolomics Identifies Sex-Specific Association of CPS1 with Coronary Artery Disease.” Nature Communications 7 (1): 10558.10.1038/ncomms10558PMC474018326822151 | — | — | — |
| HenekaMichael T., GolenbockDouglas T., and LatzEicke. 2015 “Innate Immunity in Alzheimer’s Disease.” Nature Immunology 16 (3): 229–36.2568944310.1038/ni.3102 | — | — | — |
| HibarDerrek P., AdamsHieab H. H., JahanshadNeda, ChauhanGanesh, SteinJason L., HoferEdith, RenteriaMiguel E., 2017 “Novel Genetic Loci Associated with Hippocampal Volume.” Nature Communications 8 (1): 13624.10.1038/ncomms13624PMC525363228098162 | — | — | — |
| HibarDerrek P., SteinJason L., RenteriaMiguel E., Alejandro Arias-VasquezSylvane Desrivières, JahanshadNeda, ToroRoberto, 2015 “Common Genetic Variants Influence Human Subcortical Brain Structures.” Nature 520 (7546): 224–29.2560735810.1038/nature14101PMC4393366 | — | — | — |
| HouChia-Ding. 2005 “A Simple Approximation for the Distribution of the Weighted Combination of Non-Independent or Independent Probabilities.” Statistics & Probability Letters 73 (2): 179–87. | — | — | — |
| HowieBryan, MarchiniJonathan, and StephensMatthew. 2011 “Genotype Imputation with Thousands of Genomes.” G3 1 (6): 457–70.2238435610.1534/g3.111.001198PMC3276165 | — | — | — |
| International Obsessive Compulsive Disorder Foundation Genetics Collaborative (IOCDF-GC) and OCD Collaborative Genetics Association Studies (OCGAS). 2017 “Revealing the Complex Genetic Architecture of Obsessive-Compulsive Disorder Using Meta-Analysis.” Molecular Psychiatry, 8 10.1038/mp.2017.154.PMC666015128761083 | — | — | — |
| KantarciOH, BarcellosLF, AtkinsonEJ, RamsayPP, LincolnR, AchenbachSJ, De AndradeM, HauserSL, and WeinshenkerBG. 2006 “Men Transmit MS More Often to Their Children vs Women: The Carter Effect.” Neurology 67 (2): 305–10.1686482410.1212/01.wnl.0000225070.13682.11 | — | — | — |
| KawikovaIvana, LeckmanJames F., KronigHolger, KatsovichLily, BessenDebra E., GhebremichaelMusie, and BothwellAlfred L. M.. 2007 “Decreased Numbers of Regulatory T Cells Suggest Impaired Immune Tolerance in Children with Tourette Syndrome: A Preliminary Study.” Biological Psychiatry 61 (3): 273–78.1699648710.1016/j.biopsych.2006.06.012 | — | — | — |
| KesslerRonald C., Wai Tat ChiuOlga Demler, MerikangasKathleen R., and WaltersEllen E.. 2005 “Prevalence, Severity, and Comorbidity of 12-Month DSM-IV Disorders in the National Comorbidity Survey Replication.” Archives of General Psychiatry 62 (6): 617–27.1593983910.1001/archpsyc.62.6.617PMC2847357 | — | — | — |
| KhramtsovaEkaterina A., and StrangerBarbara E.. 2016 “Assocplots: A Python Package for Static and Interactive Visualization of Multiple-Group GWAS Results.” Bioinformatics, 10 10.1093/bioinformatics/btw641.PMC641088628172529 | — | — | — |
| KimY, XiaK, TaoR, Giusti-RodriguezP, VladimirovV, van den OordE, and SullivanPF. 2014 “A Meta-Analysis of Gene Expression Quantitative Trait Loci in Brain.” Translational Psychiatry 4 (10): e459.2529026610.1038/tp.2014.96PMC4350525 | — | — | — |
| KleinSabra L., and FlanaganKatie L.. 2016 “Sex Differences in Immune Responses.” Nature Reviews. Immunology 16 (10): 626–38.10.1038/nri.2016.9027546235 | — | — | — |
| KruseLisa M., BuchanJillian G., GurnettChristina A., and DobbsMatthew B.. 2012 “Polygenic Threshold Model with Sex Dimorphism in Adolescent Idiopathic Scoliosis: The Carter Effect.” The Journal of Bone and Joint Surgery. American Volume 94 (16): 1485–91.2299281710.2106/JBJS.K.01450 | — | — | — |
| LeonardHL, SwedoSE, RapoportJL, RicklerKC, TopolD, LeeS, and RettewD. 1992 “Tourette Syndrome and Obsessive-Compulsive Disorder.” Advances in Neurology 58: 83–93.1414648 | — | — | — |
| LiuLinda Y., SchaubMarc A., SirotaMarina, and ButteAtul J.. 2012 “Sex Differences in Disease Risk from Reported Genome-Wide Association Study Findings.” Human Genetics 131 (3): 353–64.2185854210.1007/s00439-011-1081-yPMC3260375 | — | — | — |
| LochnerChristine, HemmingsSian M. J., KinnearCraig J., Moolman-SmookJohanna C., CorfieldValerie A., KnowlesJames A., NiehausDana J. H., and SteinDan J.. 2004/3 “Gender in Obsessive–compulsive Disorder: Clinical and Genetic Findings.” European Neuropsychopharmacology: The Journal of the European College of Neuropsychopharmacology 14 (2): 105–13.1501302510.1016/S0924-977X(03)00063-4 | — | — | — |
| LockeAE, KahaliB, BerndtSI, JusticeAE, PersTH, DayFR, PowellC, 2015 “Genetic Studies of Body Mass Index Yield New Insights for Obesity Biology.” Nature 518 (7538): 197–206.2567341310.1038/nature14177PMC4382211 | — | — | — |
| Major Depressive Disorder Working Group of the Psychiatric GWAS Consortium, RipkeStephan, WrayNaomi R., LewisCathryn M., HamiltonSteven P., WeissmanMyrna M., BreenGerome, 2013 “A Mega-Analysis of Genome-Wide Association Studies for Major Depressive Disorder.” Molecular Psychiatry 18 (4): 497–511.2247287610.1038/mp.2012.21PMC3837431 | — | — | — |
| MarazzitiD, PrestaS, PfannerC, GemignaniA, RossiA, SbranaS, RocchiV, AmbrogiF, and CassanoGB. 1999 “Immunological Alterations in Adult Obsessive-Compulsive Disorder.” Biological Psychiatry 46 (6): 810–14.1049444910.1016/s0006-3223(98)00371-0 | — | — | — |
| MarshSamuel E., AbudEdsel M., LakatosAnita, KarimzadehAlborz, YeungStephen T., DavtyanHayk, FoteGianna M., 2016 “The Adaptive Immune System Restrains Alzheimer’s Disease Pathogenesis by Modulating Microglial Function.” Proceedings of the National Academy of Sciences of the United States of America 113 (9): E1316–25.2688416710.1073/pnas.1525466113PMC4780638 | — | — | — |
| MartinJoanna, WaltersRaymond K., DemontisDitte, MattheisenManuel, LeeS. Hong, RobinsonElise, BrikellIsabell, 2017 “A Genetic Investigation of Sex Bias in the Prevalence of Attention Deficit Hyperactivity Disorder.” bioRxiv. 10.1101/154088. | — | — | — |
| MartinJoanna, WaltersRaymond K., DemontisDitte, MattheisenManuel, LeeS. Hong, RobinsonElise, BrikellIsabell, 2017 “A Genetic Investigation of Sex Bias in the Prevalence of Attention-Deficit/Hyperactivity Disorder.” Biological Psychiatry, 12 10.1016/j.biopsych.2017.11.026.PMC599232929325848 | — | — | — |
| MattheisenM, SamuelsJF, WangY, GreenbergBD, FyerAJ, McCrackenJT, GellerDA, 2015 “Genome-Wide Association Study in Obsessive-Compulsive Disorder: Results from the OCGAS.” Molecular Psychiatry 20 (3): 337–44.2482122310.1038/mp.2014.43PMC4231023 | — | — | — |
| MiguelEC, SteinMC, RauchSL, O’SullivanRL, SternTA, and JenikeMA. 1995 “Obsessive-Compulsive Disorder in Patients with Multiple Sclerosis.” The Journal of Neuropsychiatry and Clinical Neurosciences 7 (4): 507–10.855575610.1176/jnp.7.4.507 | — | — | — |
| MitraIleena, TsangKathryn, Christine Ladd-AcostaLisa A. Croen, AldingerKimberly A., HendrenRobert L., TragliaMichela, 2016 “Pleiotropic Mechanisms Indicated for Sex Differences in Autism.” PLoS Genetics 12 (11): e1006425.2784622610.1371/journal.pgen.1006425PMC5147776 | — | — | — |
| MurphyTanya K., SajidMuhammad W., and GoodmanWayne K.. 2006 “Immunology of Obsessive-Compulsive Disorder.” The Psychiatric Clinics of North America 29 (2): 445–69.1665071710.1016/j.psc.2006.02.003 | — | — | — |
| MurphyTanya K., StorchEric A., LewinAdam B., EdgePaula J., and GoodmanWayne K.. 2012 “Clinical Factors Associated with Pediatric Autoimmune Neuropsychiatric Disorders Associated with Streptococcal Infections.” The Journal of Pediatrics 160 (2): 314–19.2186803310.1016/j.jpeds.2011.07.012PMC3227761 | — | — | — |
| NealeBenjamin M., MedlandSarah E., RipkeStephan, AshersonPhilip, FrankeBarbara, LeschKlaus-Peter, FaraoneStephen V., 2010 “Meta-Analysis of Genome-Wide Association Studies of Attention-Deficit/hyperactivity Disorder.” Journal of the American Academy of Child and Adolescent Psychiatry 49 (9): 884–97.2073262510.1016/j.jaac.2010.06.008PMC2928252 | — | — | — |
| NestadtG, SamuelsJ, RiddleM, BienvenuOJ3rd, LiangKY, LaBudaM, WalkupJ, GradosM, and Hoehn-SaricR. 2000 “A Family Study of Obsessive-Compulsive Disorder.” Archives of General Psychiatry 57 (4): 358–63.1076869710.1001/archpsyc.57.4.358 | — | — | — |
| NestadtGerald, GradosMarco, and SamuelsJack F.. 2010 “Genetics of Obsessive-Compulsive Disorder.” The Psychiatric Clinics of North America 33 (1): 141–58.2015934410.1016/j.psc.2009.11.001PMC2824902 | — | — | — |
| OkbayAysu, BaselmansBart M. L., Jan-Emmanuel De NevePatrick Turley, NivardMichel G., FontanaMark Alan, MeddensS. Fleur W., 2016 “Genetic Variants Associated with Subjective Well-Being, Depressive Symptoms, and Neuroticism Identified through Genome-Wide Analyses.” Nature Genetics 48 (6): 624–33.2708918110.1038/ng.3552PMC4884152 | — | — | — |
| OkbayAysu, BeauchampJonathan P., Mark Alan FontanaJames J. Lee, PersTune H., RietveldCornelius A., TurleyPatrick, 2016 “Genome-Wide Association Study Identifies 74 Loci Associated with Educational Attainment.” Nature 533 (7604): 539–42.2722512910.1038/nature17671PMC4883595 | — | — | — |
| OrozcoGisela, IoannidisJohn P. A., MorrisAndrew, ZegginiEleftheria, and DIAGRAM consortium. 2012 “Sex-Specific Differences in Effect Size Estimates at Established Complex Trait Loci.” International Journal of Epidemiology 41 (5): 1376–82.2282558910.1093/ije/dys104PMC3465768 | — | — | — |
| OtowaT, HekK, LeeM, ByrneEM, MirzaSS, NivardMG, BigdeliT, 2016 “Meta-Analysis of Genome-Wide Association Studies of Anxiety Disorders.” Molecular Psychiatry 21 (10): 1485.2685759910.1038/mp.2016.11 | — | — | — |
| PersTune H., TimshelPascal, and HirschhornJoel N.. 2015 “SNPsnap: A Web-Based Tool for Identification and Annotation of Matched SNPs.” Bioinformatics 31 (3): 418–20.2531667710.1093/bioinformatics/btu655PMC4308663 | — | — | — |
| PittengerChristopher, BlochMichael H., and WilliamsKyle. 2011 “Glutamate Abnormalities in Obsessive Compulsive Disorder: Neurobiology, Pathophysiology, and Treatment.” Pharmacology & Therapeutics 132 (3): 314–32.2196336910.1016/j.pharmthera.2011.09.006PMC3205262 | — | — | — |
| PriceAlkes L., PattersonNick J., PlengeRobert M., WeinblattMichael E., ShadickNancy A., and ReichDavid. 2006 “Principal Components Analysis Corrects for Stratification in Genome-Wide Association Studies.” Nature Genetics 38 (8): 904–9.1686216110.1038/ng1847 | — | — | — |
| Psychiatric GWAS Consortium Bipolar Disorder Working Group. 2011 “Large-Scale Genome-Wide Association Analysis of Bipolar Disorder Identifies a New Susceptibility Locus near ODZ4.” Nature Genetics 43 (10): 977–83.2192697210.1038/ng.943PMC3637176 | — | — | — |
| PurcellShaun, NealeBenjamin, Kathe Todd-BrownLori Thomas, FerreiraManuel A. R., BenderDavid, MallerJulian, 2007 “PLINK: A Tool Set for Whole-Genome Association and Population-Based Linkage Analyses.” American Journal of Human Genetics 81 (3): 559–75.1770190110.1086/519795PMC1950838 | — | — | — |
| RahmiogluNilufer, MacgregorStuart, DrongAlexander W., HedmanÅsa K., HarrisHolly R., RandallJoshua C., ProkopenkoInga, 2015 “Genome-Wide Enrichment Analysis between Endometriosis and Obesity-Related Traits Reveals Novel Susceptibility Loci.” Human Molecular Genetics 24 (4): 1185–99.2529691710.1093/hmg/ddu516PMC4576730 | — | — | — |
| RajTowfique, RothamelKatie, MostafaviSara, YeChun, LeeMark N., ReplogleJoseph M., FengTing, 2014 “Polarization of the Effects of Autoimmune and Neurodegenerative Risk Alleles in Leukocytes.” Science 344 (6183): 519–23.2478608010.1126/science.1249547PMC4910825 | — | — | — |
| RandallJoshua C., WinklerThomas W., KutalikZoltán, BerndtSonja I., JacksonAnne U., MondaKeri L., KilpeläinenTuomas O., 2013 “Sex-Stratified Genome-Wide Association Studies Including 270,000 Individuals Show Sexual Dimorphism in Genetic Loci for Anthropometric Traits.” PLoS Genetics 9 (6): e1003500.2375494810.1371/journal.pgen.1003500PMC3674993 | — | — | — |
| RuscioAM, SteinDJ, ChiuWT, and KesslerRC. 2010 “The Epidemiology of Obsessive-Compulsive Disorder in the National Comorbidity Survey Replication.” Molecular Psychiatry 15 (1): 53–63.1872591210.1038/mp.2008.94PMC2797569 | — | — | — |
| ScharfJeremiah M., YuDongmei, MathewsCarol A., NealeBenjamin M., StewartS. Evelyn, FagernessJesen A., EvansPatrick, 2013 “Genome-Wide Association Study of Tourette’s Syndrome.” Molecular Psychiatry 18 (6): 721–28.2288992410.1038/mp.2012.69PMC3605224 | — | — | — |
| Schizophrenia Working Group of the Psychiatric Genomics Consortium. 2014 “Biological Insights from 108 Schizophrenia-Associated Genetic Loci.” Nature 511 (7510): 421–27.2505606110.1038/nature13595PMC4112379 | — | — | — |
| SchumannGunter, LiuChunyu, Paul O’ReillyHe Gao, SongParkyong, XuBing, RuggeriBarbara, 2016 “KLB Is Associated with Alcohol Drinking, and Its Gene Product β-Klotho Is Necessary for FGF21 Regulation of Alcohol Preference.” Proceedings of the National Academy of Sciences, 11 10.1073/pnas.1611243113.PMC516719827911795 | — | — | — |
| SinghSandeep K., LupoPhilip J., ScheurerMichael E., SaxenaAnshul, KennedyAmy E., IbrahimouBoubakari, BarbieriManuel Alejandro, 2016 “A Childhood Acute Lymphoblastic Leukemia Genome-Wide Association Study Identifies Novel Sex-Specific Risk Variants.” Medicine 95 (46): e5300.2786135610.1097/MD.0000000000005300PMC5120913 | — | — | — |
| SlatteryMarcia J., DubbertBillinda K., AllenAlbert J., LeonardHenrietta L., SwedoSusan E., and GourleyMark F.. 2004 “Prevalence of Obsessive-Compulsive Disorder in Patients with Systemic Lupus Erythematosus.” The Journal of Clinical Psychiatry 65 (3): 301–6.1509606710.4088/jcp.v65n0303 | — | — | — |
| SniderLA, and SwedoSE. 2004 “PANDAS: Current Status and Directions for Research.” Molecular Psychiatry 9 (10): 900–907.1524143310.1038/sj.mp.4001542 | — | — | — |
| StewartSE, YuD, ScharfJM, NealeBM, FagernessJA, MathewsCA, ArnoldPD, 2013 “Genome-Wide Association Study of Obsessive-Compulsive Disorder.” Molecular Psychiatry 18 (7): 788–98.2288992110.1038/mp.2012.85PMC4218751 | — | — | — |
| SwedoSE, LeckmanJF, RoseNR - Pediatr Therapeut, and 2012. 2012 “From Research Subgroup to Clinical Syndrome: Modifying the PANDAS Criteria to Describe PANS (pediatric Acute-Onset Neuropsychiatric Syndrome).” Kids.iocdf.org. https://kids.iocdf.org/wp-content/uploads/sites/6/2015/07/PANDAS-to-PANS-Final-form-for-Pediatrics-Therapeutics-2012.pdf. | — | — | — |
| SwedoSE, LeonardHL, GarveyM, MittlemanB, AllenAJ, PerlmutterS, LougeeL, DowS, ZamkoffJ, and DubbertBK. 1998 “Pediatric Autoimmune Neuropsychiatric Disorders Associated with Streptococcal Infections: Clinical Description of the First 50 Cases.” The American Journal of Psychiatry 155 (2): 264–71.946420810.1176/ajp.155.2.264 | — | — | — |
| SwedoSE, RapoportJL, LeonardH, LenaneM, and CheslowD. 1989 “Obsessive-Compulsive Disorder in Children and Adolescents. Clinical Phenomenology of 70 Consecutive Cases.” Archives of General Psychiatry 46 (4): 335–41.293033010.1001/archpsyc.1989.01810040041007 | — | — | — |
| TaylorKira C., CartyCara L., DumitrescuLogan, Petra BůžkováShelley A. Cole, HindorffLucia, SchumacherFred R., 2013 “Investigation of Gene-by-Sex Interactions for Lipid Traits in Diverse Populations from the Population Architecture Using Genomics and Epidemiology Study.” BMC Genetics 14 (5): 33.2363475610.1186/1471-2156-14-33PMC3669109 | — | — | — |
| Tobacco and Genetics Consortium. 2010 “Genome-Wide Meta-Analyses Identify Multiple Loci Associated with Smoking Behavior.” Nature Genetics 42 (5): 441–47.2041889010.1038/ng.571PMC2914600 | — | — | — |
| TorresAlbina Rodrigues, and LimaMaria Cristina Pereira. 2005 “[Epidemiology of obsessive-compulsive disorder: a review].” Revista brasileira de psiquiatria 27 (3): 237–42.1622461410.1590/s1516-44462005000300015 | — | — | — |
| WatanabeKyoko, TaskesenErdogan, van BochovenArjen, and PosthumaDanielle 2017 “Functional Mapping and Annotation of Genetic Associations with FUMA.” Nature Communications 8 (1): 1826.10.1038/s41467-017-01261-5PMC570569829184056 | — | — | — |
| WeissmanMM, BlandRC, CaninoGJ, GreenwaldS, HwuHG, LeeCK, NewmanSC, Oakley-BrowneMA, Rubio-StipecM, and WickramaratnePJ. 1994 “The Cross National Epidemiology of Obsessive Compulsive Disorder. The Cross National Collaborative Group.” The Journal of Clinical Psychiatry 55 Suppl (3): 5–10.8077177 | — | — | — |
| WillerCristen J., LiYun, and AbecasisGonçalo R.. 2010 “METAL: Fast and Efficient Meta-Analysis of Genomewide Association Scans.” Bioinformatics 26 (17): 2190–91.2061638210.1093/bioinformatics/btq340PMC2922887 | — | — | — |
| WinklerThomas W., JusticeAnne E., GraffMariaelisa, BarataLlilda, FeitosaMary F., ChuSu, CzajkowskiJacek, 2015 “The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape: A Large-Scale Genome-Wide Interaction Study.” PLoS Genetics 11 (10): e1005378.2642697110.1371/journal.pgen.1005378PMC4591371 | — | — | — |
| YangJian, LeeS. Hong, GoddardMichael E., and VisscherPeter M.. 2011 “GCTA: A Tool for Genome-Wide Complex Trait Analysis.” American Journal of Human Genetics 88 (1): 76–82.2116746810.1016/j.ajhg.2010.11.011PMC3014363 | — | — | — |
| YuDongmei, MathewsCarol A., ScharfJeremiah M., NealeBenjamin M., DavisLea K., GamazonEric R., DerksEske M., 2015 “Cross-Disorder Genome-Wide Analyses Suggest a Complex Genetic Relationship between Tourette’s Syndrome and OCD.” The American Journal of Psychiatry 172 (1): 82–93.2515807210.1176/appi.ajp.2014.13101306PMC4282594 | — | — | — |
| ZhuangJoanna J., and MorrisAndrew P.. 2009 “Assessment of Sex-Specific Effects in a Genome-Wide Association Study of Rheumatoid Arthritis.” BMC Proceedings 3 Suppl 7 (12): S90.2001808710.1186/1753-6561-3-s7-s90PMC2795994 | — | — | — |
| ———. 2015b “Neuroinflammatory Pathways in Anxiety, Posttraumatic Stress, and Obsessive Compulsive Disorders.” Psychiatry Research 229 (1–2): 37–48.2629695110.1016/j.psychres.2015.05.036 | — | — | — |
In this knowledge base
External
| Title | Authors | Journal | Year | Link |
|---|---|---|---|---|
| Genetic Underpinnings of Obsessive-Compulsive Disorder With and Without Tics: Implications of Genetic Heterogeneity on Clinical Management. | Zouki JJ et al. | — | 2026 | → |
| Genetic and functional analyses of CTBP2 in anorexia nervosa and body weight regulation. | Giuranna J et al. | — | 2025 | → |
| Molecular Mechanism of the <i>Grid</i> Gene Family Regulating Growth Size Heteromorphism in <i>Cynoglossus semilaevis</i>. | Wang Y et al. | — | 2025 | → |
| The Role of Epigenetics in the Pathogenesis and Potential Treatment of Obsessive-compulsive Disorder. | Peedicayil J | — | 2025 | → |
| Multivariate genetic architecture reveals testosterone-driven sexual antagonism in contemporary humans. | Chakrabarty A et al. | — | 2024 | → |
| Sex-specific genetic architecture of blood pressure. | Yang ML et al. | — | 2024 | → |
| Genetics, sex, and gender. | Reale C et al. | — | 2023 | → |
| Genetic variants in genes involved in creatine biosynthesis in patients with severe obesity or anorexia nervosa. | Rajcsanyi LS et al. | — | 2023 | → |
| Genome-wide association studies and cross-population meta-analyses investigating short and long sleep duration. | Austin-Zimmerman I et al. | — | 2023 | → |
| Mapping the neuroanatomical heterogeneity of OCD using a framework integrating normative model and non-negative matrix factorization. | Han S et al. | — | 2023 | → |
| Measurement fidelity of clinical assessment methods in a global study on identifying reproducible brain signatures of obsessive-compulsive disorder. | Shavitt RG et al. | — | 2023 | → |
| A scoping review and comparison of approaches for measuring genetic heterogeneity in psychiatric disorders. | Wang H et al. | — | 2022 | → |
| Determination of the relationship between major histocompatibility complex alleles and childhood onset obsessive-compulsive disorder. | Lüleyap Ü et al. | — | 2022 | → |
| Drosophila melanogaster hosts coevolving with Pseudomonas entomophila pathogen show sex-specific patterns of local adaptation. | Ahlawat N et al. | — | 2022 | → |
| MAOA-LPR polymorphism and math anxiety: A marker of genetic susceptibility to social influences in girls? | Carvalho MRS et al. | — | 2022 | → |
| Probing the functional consequence and clinical relevance of CD320 p.E88del, a variant in the transcobalamin receptor gene. | Pangilinan F et al. | — | 2022 | → |
| PTBP2 - a gene with relevance for both Anorexia nervosa and body weight regulation. | Zheng Y et al. | — | 2022 | → |
| Sex-Dependent Shared and Nonshared Genetic Architecture Across Mood and Psychotic Disorders. | Blokland GAM et al. | — | 2022 | → |
| A dimensional perspective on the genetics of obsessive-compulsive disorder. | Strom NI et al. | — | 2021 | → |
| Association of Gene Variations in Ionotropic Glutamate Receptor and Attention-Deficit/Hyperactivity Disorder in the Chinese Population: A Two-Stage Case-Control Study. | Zhang Q et al. | — | 2021 | → |
| Examining Sex-Differentiated Genetic Effects Across Neuropsychiatric and Behavioral Traits. | Martin J et al. | — | 2021 | → |
| Exome sequencing in obsessive-compulsive disorder reveals a burden of rare damaging coding variants. | Halvorsen M et al. | — | 2021 | → |
| Genetic predisposition to tinnitus in the UK Biobank population. | Urbanek ME et al. | — | 2021 | → |
| Genetics of obsessive-compulsive disorder. | Mahjani B et al. | — | 2021 | → |
| Genomics of Obsessive-Compulsive Disorder-Toward Personalized Medicine in the Era of Big Data. | Szejko N et al. | — | 2021 | → |
| Polygenic Heterogeneity Across Obsessive-Compulsive Disorder Subgroups Defined by a Comorbid Diagnosis. | Strom NI et al. | — | 2021 | → |
| The association of polygenic risk for schizophrenia, bipolar disorder, and depression with neural connectivity in adolescents and young adults: examining developmental and sex differences. | Meyers JL et al. | — | 2021 | → |
| Concentrations of persistent organic pollutants in maternal plasma and epigenome-wide placental DNA methylation. | Ouidir M et al. | — | 2020 | → |
| Cutting-edge genetics in obsessive-compulsive disorder. | Saraiva LC et al. | — | 2020 | → |
| Heterogeneity and Polygenicity in Psychiatric Disorders: A Genome-Wide Perspective. | Wendt FR et al. | — | 2020 | → |
| Obsessive-compulsive and related disorders. | Mattina GF et al. | — | 2020 | → |
| Sex-Dependent Shared and Non-Shared Genetic Architecture Across Mood and Psychotic Disorders | Blokland GAM et al. | — | 2020 | — |
| Using the tools of genetic epidemiology to understand sex differences in neuropsychiatric disorders. | Merikangas AK et al. | — | 2020 | → |
| Association analyses reveal gender-specific associations of DAT1 40-bp VNTR and -839C/T polymorphisms with obsessive-compulsive disorder and obsessive-compulsive symptoms. | Cotrin JC et al. | — | 2019 | → |
| Conservation, acquisition, and functional impact of sex-biased gene expression in mammals. | Naqvi S et al. | — | 2019 | → |
| Genetic correlations of psychiatric traits with body composition and glycemic traits are sex- and age-dependent. | Hübel C et al. | — | 2019 | → |
| Sex: a key consideration in understanding the etiology of psychiatric disorders and improving treatment | Tannenbaum C et al. | — | 2019 | → |
| Update on Sexual Dimorphism in Brain Structure-Function Interrelationships: A Literature Review. | Pallayova M et al. | — | 2019 | → |
| Bridging Molecular Genetics and Epidemiology to Better Understand Sex Differences in Attention-Deficit/Hyperactivity Disorder. | Davis LK | — | 2018 | → |