The role of sex in the genomics of human complex traits

The Biological Contributions to Gender Identity and Gender Diversity: Bringing Data to the Table

(2018) Tinca J. C. Polderman et al.   BEHAVIOR GENETICS

A Genetic Investigation of Sex Bias in the Prevalence of Attention-Deficit/Hyperactivity Disorder

(2018) Joanna Martin et al.   BIOLOGICAL PSYCHIATRY

Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals

(2018) James J. Lee et al.   NATURE GENETICS

Applying the new SABV (sex as a biological variable) policy to research and clinical care

(2018) Janine Austin Clayton   PHYSIOLOGY & BEHAVIOR

Sex-chromosome dosage effects on gene expression in humans

(2018) Armin Raznahan et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Analysis of shared heritability in common disorders of the brain

(2018) et al.   SCIENCE

Sex differences in obesity, lipid metabolism, and inflammation—A role for the sex chromosomes?

(2018) Temeka Zore et al.   Molecular Metabolism

Meta-analysis of genome-wide association studies for body fat distribution in 694,649 individuals of European ancestry

(2018) Sara L Pulit et al.   HUMAN MOLECULAR GENETICS

Examining health disparities by gender: A multimorbidity network analysis of electronic medical record

(2017) Pankush Kalgotra et al.   INTERNATIONAL JOURNAL OF MEDICAL INFORMATICS

Environmental Plasticity in the Intersexual Correlation and Sex Bias of Gene Expression

(2017) Changde Cheng et al.   JOURNAL OF HEREDITY

Landscape of X chromosome inactivation across human tissues

(2017) Taru Tukiainen et al.   NATURE

Genetic effects on gene expression across human tissues

(2017) François Aguet et al.   NATURE

Population- and individual-specific regulatory variation in Sardinia

(2017) Mauro Pala et al.   NATURE GENETICS

Classification of common human diseases derived from shared genetic and environmental determinants

(2017) Kanix Wang et al.   NATURE GENETICS

Accounting for sex in the genome

(2017)   NATURE MEDICINE

Sex-specific transcriptional signatures in human depression

(2017) Benoit Labonté et al.   NATURE MEDICINE

Population genetics of sexual conflict in the genomic era

(2017) Judith E. Mank   NATURE REVIEWS GENETICS

Y chromosome’s roles in sex differences in disease

(2017) Arthur P. Arnold   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Genetic variation in chromosome Y regulates susceptibility to influenza A virus infection

(2017) Dimitry N. Krementsov et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Sex-specific gene–environment interactions underlying ASD-like behaviors

(2017) Sara M. Schaafsma et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Genetic regulatory effects modified by immune activation contribute to autoimmune disease associations

(2017) Sarah Kim-Hellmuth et al.   Nature Communications

Testosterone Attenuates Group 2 Innate Lymphoid Cell-Mediated Airway Inflammation

(2017) Jacqueline-Yvonne Cephus et al.   Cell Reports

Pathogenic implications for autoimmune mechanisms derived by comparative eQTL analysis of CD4+ versus CD8+ T cells

(2017) Silva Kasela et al.   PLoS Genetics

Sex influences eQTL effects of SLE and Sjögren’s syndrome-associated genetic polymorphisms

(2017) Magdalena Lindén et al.   Biology of Sex Differences

LD Hub: a centralized database and web interface to perform LD score regression that maximizes the potential of summary level GWAS data for SNP heritability and genetic correlation analysis

(2016) Jie Zheng et al.   BIOINFORMATICS

Genetic Drivers of Epigenetic and Transcriptional Variation in Human Immune Cells

(2016) Lu Chen et al.   CELL

Endogenous hepatic glucocorticoid receptor signaling coordinates sex-biased inflammatory gene expression

(2016) Matthew A. Quinn et al.   FASEB JOURNAL

Genetic Mechanisms Leading to Sex Differences Across Common Diseases and Anthropometric Traits

(2016) Michela Traglia et al.   GENETICS

Impact of the X Chromosome and sex on regulatory variation

(2016) Kimberly R. Kukurba et al.   GENOME RESEARCH

Is There a Female Protective Effect Against Attention-Deficit/Hyperactivity Disorder? Evidence From Two Representative Twin Samples

(2016) Mark J. Taylor et al.   JOURNAL OF THE AMERICAN ACADEMY OF CHILD AND ADOLESCENT PSYCHIATRY

A childhood acute lymphoblastic leukemia genome-wide association study identifies novel sex-specific risk variants

(2016) Sandeep K. Singh et al.   MEDICINE

A reference panel of 64,976 haplotypes for genotype imputation

(2016)   NATURE GENETICS

The roles of RNA processing in translating genotype to phenotype

(2016) Kassie S. Manning et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

The new NHGRI-EBI Catalog of published genome-wide association studies (GWAS Catalog)

(2016) Jacqueline MacArthur et al.   NUCLEIC ACIDS RESEARCH

The adaptive immune system restrains Alzheimer’s disease pathogenesis by modulating microglial function

(2016) Samuel E. Marsh et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Intralocus sexual conflict and insecticide resistance

(2016) M. F. Hawkes et al.   PROCEEDINGS OF THE ROYAL SOCIETY B-BIOLOGICAL SCIENCES

RNA splicing is a primary link between genetic variation and disease

(2016) Yang I. Li et al.   SCIENCE

Genome-wide association study and targeted metabolomics identifies sex-specific association of CPS1 with coronary artery disease

(2016) Jaana A. Hartiala et al.   Nature Communications

Genetic and environmental influences interact with age and sex in shaping the human methylome

(2016) Jenny van Dongen et al.   Nature Communications

Pleiotropic Mechanisms Indicated for Sex Differences in Autism

(2016) Ileena Mitra et al.   PLoS Genetics

Genetic Mechanisms Leading to Sex Differences Across Common Diseases and Anthropometric Traits

(2016) Michela Traglia et al.   GENETICS

A primer on the use of mouse models for identifying direct sex chromosome effects that cause sex differences in non-gonadal tissues

(2016) Paul S. Burgoyne et al.   Biology of Sex Differences

Large Scale Gene Expression Meta-Analysis Reveals Tissue-Specific, Sex-Biased Gene Expression in Humans

(2016) Benjamin T. Mayne et al.   Frontiers in Genetics

Genetic Architecture of Insulin Resistance in the Mouse

(2015) Brian W. Parks et al.   Cell Metabolism

XWAS: A Software Toolset for Genetic Data Analysis and Association Studies of the X Chromosome

(2015) Feng Gao et al.   JOURNAL OF HEREDITY

Increased female autosomal burden of rare copy number variants in human populations and in autism families

(2015) G Desachy et al.   MOLECULAR PSYCHIATRY

Sex-dependent dominance at a single locus maintains variation in age at maturity in salmon

(2015) Nicola J. Barson et al.   NATURE

A global reference for human genetic variation

(2015) Richard A. Gibbs et al.   NATURE

Recombination affects accumulation of damaging and disease-associated mutations in human populations

(2015) Julie G Hussin et al.   NATURE GENETICS

Meta-analysis of the heritability of human traits based on fifty years of twin studies

(2015) Tinca J C Polderman et al.   NATURE GENETICS

An atlas of genetic correlations across human diseases and traits

(2015) Brendan Bulik-Sullivan et al.   NATURE GENETICS

Innate immunity in Alzheimer's disease

(2015) Michael T Heneka et al.   NATURE IMMUNOLOGY

Different immune cells mediate mechanical pain hypersensitivity in male and female mice

(2015) Robert E Sorge et al.   NATURE NEUROSCIENCE

A Candidate Gene Association Study Identifies DAPL1 as a Female-Specific Susceptibility Locus for Age-Related Macular Degeneration (AMD)

(2015) Felix Grassmann et al.   NEUROMOLECULAR MEDICINE

Gender Differences in Smoking Behavior and Dependence Motives Among Daily and Nondaily Smokers

(2015) Alicia M. Allen et al.   NICOTINE & TOBACCO RESEARCH

Examining the role of neuroinflammation in major depression

(2015) Melissa Furtado et al.   PSYCHIATRY RESEARCH

Neuroinflammatory pathways in anxiety, posttraumatic stress, and obsessive compulsive disorders

(2015) Melissa Furtado et al.   PSYCHIATRY RESEARCH

Characterization of whole-genome autosomal differences of DNA methylation between men and women

(2015) Paula Singmann et al.   Epigenetics & Chromatin

Genomic modulators of gene expression in human neutrophils

(2015) Vivek Naranbhai et al.   Nature Communications

Tissue-Specific Effects of Genetic and Epigenetic Variation on Gene Regulation and Splicing

(2015) Maria Gutierrez-Arcelus et al.   PLoS Genetics

The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape: A Large-Scale Genome-Wide Interaction Study

(2015) Thomas W. Winkler et al.   PLoS Genetics

Sex differences in the brain: a whole body perspective

(2015) Geert J. de Vries et al.   Biology of Sex Differences

Identification of Genetic Determinants of the Sexual Dimorphism in CNS Autoimmunity

(2015) Frank Bearoff et al.   PLoS One

Sex Differences in Liver Toxicity—Do Female and Male Human Primary Hepatocytes React Differently to Toxicants In Vitro?

(2015) Milena Mennecozzi et al.   PLoS One

Sex differences in the human peripheral blood transcriptome

(2014) Rick Jansen et al.   BMC GENOMICS

The role of reproductive hormones in postpartum depression

(2014) Crystal Edler Schiller et al.   CNS SPECTRUMS

OBSESSIVE-COMPULSIVE DISORDER AND FEMALE REPRODUCTIVE CYCLE EVENTS: RESULTS FROM THE OCD AND REPRODUCTION COLLABORATIVE STUDY

(2014) Valeria Guglielmi et al.   DEPRESSION AND ANXIETY

The human skeletal muscle transcriptome: sex differences, alternative splicing, and tissue homogeneity assessed with RNA sequencing

(2014) Malene E. Lindholm et al.   FASEB JOURNAL

Gender differences in autoimmune disease

(2014) S.T. Ngo et al.   FRONTIERS IN NEUROENDOCRINOLOGY

How to Include Chromosome X in Your Genome-Wide Association Study

(2014) Inke R. König et al.   GENETIC EPIDEMIOLOGY

Genome-wide enrichment analysis between endometriosis and obesity-related traits reveals novel susceptibility loci

(2014) N. Rahmioglu et al.   HUMAN MOLECULAR GENETICS

Genome-wide interaction studies reveal sex-specific asthma risk alleles

(2014) Rachel A. Myers et al.   HUMAN MOLECULAR GENETICS

Genetic pleiotropy between multiple sclerosis and schizophrenia but not bipolar disorder: differential involvement of immune-related gene loci

(2014) O A Andreassen et al.   MOLECULAR PSYCHIATRY

Biological insights from 108 schizophrenia-associated genetic loci

(2014)   NATURE

Intersection of population variation and autoimmunity genetics in human T cell activation

(2014) C. J. Ye et al.   SCIENCE

Polarization of the Effects of Autoimmune and Neurodegenerative Risk Alleles in Leukocytes

(2014) T. Raj et al.   SCIENCE

Common Genetic Variants Modulate Pathogen-Sensing Responses in Human Dendritic Cells

(2014) M. N. Lee et al.   SCIENCE

Innate Immune Activity Conditions the Effect of Regulatory Variants upon Monocyte Gene Expression

(2014) B. P. Fairfax et al.   SCIENCE

Sex differences in disease genetics: evidence, evolution, and detection

(2014) William P. Gilks et al.   TRENDS IN GENETICS

Chromosome X-Wide Association Study Identifies Loci for Fasting Insulin and Height and Evidence for Incomplete Dosage Compensation

(2014) Taru Tukiainen et al.   PLoS Genetics

eXclusion: Toward Integrating the X Chromosome in Genome-wide Association Analyses

(2013) Anastasia L. Wise et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Investigation of gene-by-sex interactions for lipid traits in diverse populations from the population architecture using genomics and epidemiology study

(2013) Kira C Taylor et al.   BMC GENETICS

Genetics of human gene expression

(2013) Barbara E Stranger et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

Sex differences in autism spectrum disorders

(2013) Donna M. Werling et al.   CURRENT OPINION IN NEUROLOGY

The Y chromosome as a regulatory element shaping immune cell transcriptomes and susceptibility to autoimmune disease

(2013) L. K. Case et al.   GENOME RESEARCH

Genomics of alternative splicing: evolution, development and pathophysiology

(2013) Eric R. Gamazon et al.   HUMAN GENETICS

Sex- and age-interacting eQTLs in human complex diseases

(2013) Chen Yao et al.   HUMAN MOLECULAR GENETICS

Genome-Wide Analysis of Chromatin States Reveals Distinct Mechanisms of Sex-Dependent Gene Regulation in Male and Female Mouse Liver

(2013) A. Sugathan et al.   MOLECULAR AND CELLULAR BIOLOGY

Transcriptome and genome sequencing uncovers functional variation in humans

(2013) Tuuli Lappalainen et al.   NATURE

Life history trade-offs at a single locus maintain sexually selected genetic variation

(2013) Susan E. Johnston et al.   NATURE

Common variants associated with plasma triglycerides and risk for coronary artery disease

(2013) Ron Do et al.   NATURE GENETICS

Discovering high-resolution patterns of differential DNA methylation that correlate with gene expression changes

(2013) Nathan D. VanderKraats et al.   NUCLEIC ACIDS RESEARCH

The NHGRI GWAS Catalog, a curated resource of SNP-trait associations

(2013) Danielle Welter et al.   NUCLEIC ACIDS RESEARCH

Systems analysis of sex differences reveals an immunosuppressive role for testosterone in the response to influenza vaccination

(2013) D. Furman et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Examining and interpreting the female protective effect against autistic behavior

(2013) E. B. Robinson et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Widespread sex differences in gene expression and splicing in the adult human brain

(2013) Daniah Trabzuni et al.   Nature Communications

Sex-stratified Genome-wide Association Studies Including 270,000 Individuals Show Sexual Dimorphism in Genetic Loci for Anthropometric Traits

(2013) Joshua C. Randall et al.   PLoS Genetics

Nutritional factors and gender influence age-related DNA methylation in the human rectal mucosa

(2012) Henri S. Tapp et al.   AGING CELL

Modular Genetic Control of Sexually Dimorphic Behaviors

(2012) Xiaohong Xu et al.   CELL

Understanding the Sexome: Measuring and Reporting Sex Differences in Gene Systems

(2012) Arthur P. Arnold et al.   ENDOCRINOLOGY

Sex-biased genetic effects on gene regulation in humans

(2012) A. S. Dimas et al.   GENOME RESEARCH

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

(2012) Vesna Boraska et al.   HUMAN MOLECULAR GENETICS

Cohort profile of the CARTaGENE study: Quebec’s population-based biobank for public health and personalized genomics

(2012) Philip Awadalla et al.   INTERNATIONAL JOURNAL OF EPIDEMIOLOGY

Sex-specific differences in effect size estimates at established complex trait loci

(2012) Gisela Orozco et al.   INTERNATIONAL JOURNAL OF EPIDEMIOLOGY

Polygenic Threshold Model with Sex Dimorphism in Adolescent Idiopathic Scoliosis: The Carter Effect

(2012) Lisa M Kruse et al.   JOURNAL OF BONE AND JOINT SURGERY-AMERICAN VOLUME

Sex Differences in Stroke

(2012) Roy AM Haast et al.   JOURNAL OF CEREBRAL BLOOD FLOW AND METABOLISM

Inheritance of coronary artery disease in men: an analysis of the role of the Y chromosome

(2012) Fadi J Charchar et al.   LANCET

Mapping cis- and trans-regulatory effects across multiple tissues in twins

(2012) Elin Grundberg et al.   NATURE GENETICS

Chromosome Y Regulates Survival Following Murine Coxsackievirus B3 Infection

(2012) Laure K. Case et al.   G3-Genes Genomes Genetics

Comparing genotyping algorithms for Illumina's Infinium whole-genome SNP BeadChips

(2011) Matthew E Ritchie et al.   BMC BIOINFORMATICS

Sex differences in disease risk from reported genome-wide association study findings

(2011) Linda Y. Liu et al.   HUMAN GENETICS

Association Tests for X-Chromosomal Markers – A Comparison of Different Test Statistics

(2011) Christina Loley et al.   HUMAN HEREDITY

Adverse Drug Reactions in Women's Health Care

(2011) Nell Tharpe   JOURNAL OF MIDWIFERY & WOMENS HEALTH

Profile of adipose tissue gene expression in premenopausal and postmenopausal women

(2011) Cecilia Gomez-Santos et al.   MENOPAUSE-THE JOURNAL OF THE NORTH AMERICAN MENOPAUSE SOCIETY

Gender differences in occupational exposure patterns

(2011) A. Eng et al.   OCCUPATIONAL AND ENVIRONMENTAL MEDICINE

The Choice of the Filtering Method in Microarrays Affects the Inference Regarding Dosage Compensation of the Active X-Chromosome

(2011) Raphaële Castagné et al.   PLoS One

Correction: Lactation Defect with Impaired Secretory Activation in AEBP1-Null Mice

(2011) Lei Zhang et al.   PLoS One

Genomic imprinting on the X chromosome: implications for brain and behavioral phenotypes

(2010) William Davies   Annals of the New York Academy of Sciences

Onset and Exacerbation of Obsessive-Compulsive Disorder in Pregnancy and the Postpartum Period

(2010) Ariadna Forray et al.   JOURNAL OF CLINICAL PSYCHIATRY

Unbiased, Genome-Wide In Vivo Mapping of Transcriptional Regulatory Elements Reveals Sex Differences in Chromatin Structure Associated with Sex-Specific Liver Gene Expression

(2010) G. Ling et al.   MOLECULAR AND CELLULAR BIOLOGY

Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution

(2010) Iris M Heid et al.   NATURE GENETICS

Common genetic and environmental contributions to post-traumatic stress disorder and alcohol dependence in young women

(2010) C. E. Sartor et al.   PSYCHOLOGICAL MEDICINE

Trait-Associated SNPs Are More Likely to Be eQTLs: Annotation to Enhance Discovery from GWAS

(2010) Dan L. Nicolae et al.   PLoS Genetics

Sex-specific and lineage-specific alternative splicing in primates

(2009) R. Blekhman et al.   GENOME RESEARCH

Association of Y chromosome haplogroup I with HIV progression, and HAART outcome

(2009) Efe Sezgin et al.   HUMAN GENETICS

Autoimmunity and Klinefelter's syndrome: When men have two X chromosomes

(2009) Amr H. Sawalha et al.   JOURNAL OF AUTOIMMUNITY

Effect of menopause on gene expression pattern in bone tissue of nonosteoporotic women

(2009) János P. Kósa et al.   MENOPAUSE-THE JOURNAL OF THE NORTH AMERICAN MENOPAUSE SOCIETY

Systems genetics of complex traits in Drosophila melanogaster

(2009) Julien F Ayroles et al.   NATURE GENETICS

Tissue Effect on Genetic Control of Transcript Isoform Variation

(2009) Tony Kwan et al.   PLoS Genetics

Juvenile-onset OCD: clinical features in children, adolescents and adults

(2008) M. C. Mancebo et al.   ACTA PSYCHIATRICA SCANDINAVICA

Testing for association on the X chromosome

(2008) David Clayton   BIOSTATISTICS

Premenstrual Asthma: Prevalence, Cycle-to-Cycle Variability and Relationship to Oral Contraceptive Use and Menstrual Symptoms

(2008) Vanessa E. Murphy et al.   JOURNAL OF ASTHMA

Large-Scale Population Study of Human Cell Lines Indicates that Dosage Compensation Is Virtually Complete

(2008) Colette M. Johnston et al.   PLoS Genetics

Sex-Related Differences in Gene Expression in Human Skeletal Muscle

(2008) Stephen Welle et al.   PLoS One

A mu opioid receptor gene polymorphism (A118G) and naltrexone treatment response in adherent Korean alcohol-dependent patients

(2008) Sung-Gon Kim et al.   PSYCHOPHARMACOLOGY

A Global View of Gene Activity and Alternative Splicing by Deep Sequencing of the Human Transcriptome

(2008) M. Sultan et al.   SCIENCE