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  1. Article ; Online: Sex Differences in Autism Heritability and Likelihood: What's in a Residual?

    Tsompanidis, Alex / Warrier, Varun / Baron-Cohen, Simon

    JAMA psychiatry

    2024  

    Language English
    Publishing date 2024-04-17
    Publishing country United States
    Document type Journal Article
    ZDB-ID 2701203-7
    ISSN 2168-6238 ; 2168-622X
    ISSN (online) 2168-6238
    ISSN 2168-622X
    DOI 10.1001/jamapsychiatry.2024.0339
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  2. Article ; Online: Delineating the Shared Genetics Across the Mood Disorders Spectrum.

    Warrier, Varun

    Biological psychiatry

    2020  Volume 88, Issue 2, Page(s) 134–135

    MeSH term(s) Bipolar Disorder ; Depressive Disorder, Major ; Genome-Wide Association Study ; Humans ; Mood Disorders/genetics
    Language English
    Publishing date 2020-07-02
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't ; Comment
    ZDB-ID 209434-4
    ISSN 1873-2402 ; 0006-3223
    ISSN (online) 1873-2402
    ISSN 0006-3223
    DOI 10.1016/j.biopsych.2020.04.017
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  3. Article ; Online: Genetics of gambling disorder and related phenotypes: The potential uses of polygenic and multifactorial risk models to enable early detection and improve clinical outcomes.

    Warrier, Varun / Chamberlain, Samuel R / Thomas, Shane A / Bowden-Jones, Henrietta

    Journal of behavioral addictions

    2024  Volume 13, Issue 1, Page(s) 16–20

    Abstract: Gambling Disorder (GD) is an impactful behavioural addiction for which there appear to be underpinning genetic contributors. Twin studies show significant GD heritability results and intergenerational transmission show high rates of transmission. Recent ... ...

    Abstract Gambling Disorder (GD) is an impactful behavioural addiction for which there appear to be underpinning genetic contributors. Twin studies show significant GD heritability results and intergenerational transmission show high rates of transmission. Recent developments in polygenic and multifactorial risk prediction modelling provide promising opportunities to enable early identification and intervention for at risk individuals. People with GD often have significant delays in diagnosis and subsequent help-seeking that can compromise their recovery. In this paper we advocate for more research into the utility of polygenic and multifactorial risk modelling in GD research and treatment programs and rigorous evaluation of its costs and benefits.
    MeSH term(s) Humans ; Gambling/genetics ; Behavior, Addictive ; Risk Assessment
    Language English
    Publishing date 2024-01-15
    Publishing country Hungary
    Document type Journal Article
    ZDB-ID 2817933-X
    ISSN 2063-5303 ; 2063-5303
    ISSN (online) 2063-5303
    ISSN 2063-5303
    DOI 10.1556/2006.2023.00075
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  4. Article: Contribution of autosomal rare and

    Koko, Mahmoud / Satterstrom, F Kyle / Warrier, Varun / Martin, Hilary

    medRxiv : the preprint server for health sciences

    2024  

    Abstract: Autism is four times more prevalent in males than females. To study whether this reflects a difference in genetic predisposition attributed to autosomal rare variants, we evaluated the sex differences in effect size of damaging protein-truncating and ... ...

    Abstract Autism is four times more prevalent in males than females. To study whether this reflects a difference in genetic predisposition attributed to autosomal rare variants, we evaluated the sex differences in effect size of damaging protein-truncating and missense variants on autism predisposition in 47,061 autistic individuals, then compared effect sizes between individuals with and without cognitive impairment or motor delay. Although these variants mediated differential likelihood of autism with versus without motor or cognitive impairment, their effect sizes on the liability scale did not differ significantly by sex exome-wide or in genes sex-differentially expressed in the cortex. Although de novo mutations were enriched in genes with male-biased expression in the fetal cortex, the liability they conferred did not differ significantly from other genes with similar loss-of-function intolerance and sex-averaged cortical expression. In summary, autosomal rare coding variants confer similar liability for autism in females and males.
    Language English
    Publishing date 2024-04-16
    Publishing country United States
    Document type Preprint
    DOI 10.1101/2024.04.13.24305713
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  5. Article ; Online: Naming Autism in the Right Context.

    Roman-Urrestarazu, Andres / Dumas, Guillaume / Warrier, Varun

    JAMA pediatrics

    2022  Volume 176, Issue 7, Page(s) 633–634

    MeSH term(s) Autistic Disorder/diagnosis ; Humans
    Language English
    Publishing date 2022-04-04
    Publishing country United States
    Document type Journal Article
    ZDB-ID 2701223-2
    ISSN 2168-6211 ; 2168-6203
    ISSN (online) 2168-6211
    ISSN 2168-6203
    DOI 10.1001/jamapediatrics.2021.6036
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  6. Article: The genetics of autism and steroid-related traits in prenatal and postnatal life.

    Tsompanidis, Alex / Warrier, Varun / Baron-Cohen, Simon

    Frontiers in endocrinology

    2023  Volume 14, Page(s) 1126036

    Abstract: Background: Autism likelihood is a largely heritable trait. Autism prevalence has a skewed sex ratio, with males being diagnosed more often than females. Steroid hormones play a mediating role in this, as indicated by studies of both prenatal biology ... ...

    Abstract Background: Autism likelihood is a largely heritable trait. Autism prevalence has a skewed sex ratio, with males being diagnosed more often than females. Steroid hormones play a mediating role in this, as indicated by studies of both prenatal biology and postnatal medical conditions in autistic men and women. It is currently unclear if the genetics of steroid regulation or production interact with the genetic liability for autism.
    Methods: To address this, two studies were conducted using publicly available datasets, which focused respectively on rare genetic variants linked to autism and neurodevelopmental conditions (study 1) and common genetic variants (study 2) for autism. In Study 1 an enrichment analysis was conducted, between autism-related genes (SFARI database) and genes that are differentially expressed (FDR<0.1) between male and female placentas, in 1
    Results: In Study 1, there was significant enrichment of X-linked autism genes in male-biased placental genes, independently of gene length (n=5 genes, p<0.001). In Study 2, common genetic variance associated with autism did not correlate to the genetics for the postnatal levels of testosterone, estradiol or PlGF, but was associated with the genotypes associated with early age of menarche in females (b=-0.109, FDR-q=0.004) and protection from androgenic alopecia for males (b=-0.135, FDR-q=0.007).
    Conclusion: The rare genetic variants associated with autism appear to interact with placental sex differences, while the common genetic variants associated with autism appear to be involved in the regulation of steroid-related traits. These lines of evidence indicate that the likelihood for autism is partly linked to factors mediating physiological sex differences throughout development.
    MeSH term(s) Pregnancy ; Female ; Humans ; Male ; Autistic Disorder ; Genome-Wide Association Study ; Placenta ; Steroids ; Estradiol ; Alopecia
    Chemical Substances Steroids ; Estradiol (4TI98Z838E)
    Language English
    Publishing date 2023-05-08
    Publishing country Switzerland
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 2592084-4
    ISSN 1664-2392
    ISSN 1664-2392
    DOI 10.3389/fendo.2023.1126036
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  7. Article ; Online: Autistic Traits, Empathizing-Systemizing, and Gender Diversity.

    Hendriks, Olivia / Wei, Yimeng / Warrier, Varun / Richards, Gareth

    Archives of sexual behavior

    2022  Volume 51, Issue 4, Page(s) 2077–2089

    Abstract: Previous research indicates a link between autism and transgender and gender-diverse identities, though the association is not yet fully understood. The current study examined autistic traits (Autism Spectrum Quotient [AQ]), empathizing (Empathizing ... ...

    Abstract Previous research indicates a link between autism and transgender and gender-diverse identities, though the association is not yet fully understood. The current study examined autistic traits (Autism Spectrum Quotient [AQ]), empathizing (Empathizing Quotient-Short [EQ-S]), and systemizing (Systemizing Quotient-Short [SQ-S]) in a sample of 89 adults and aimed to test whether gender-diverse individuals exhibit cognitive profiles consistent with predictions derived from the Extreme Male Brain (EMB) theory. As most research has considered only cisgender people, we recruited a more diverse sample by contacting > 200 UK LGBTQ+ organizations and posting on social media. A range of non-cisgender identities (e.g., transgender male, transgender female, non-binary, genderqueer, transmasculine) and non-heterosexual orientations (e.g., bisexual) were represented, and participants were categorized into one of four groups: (1) assigned female at birth but does not identify as female (transgender AFAB) (n = 32), (2) cisgender female (n = 21), (3) assigned male at birth but does not identify as male (transgender AMAB) (n = 18), and (4) cisgender male (n = 18). After controlling for age and autism diagnostic status, transgender AFAB participants had marginally higher AQ scores, and significantly higher SQ-S and systemizing-relative-to-empathizing (D) scores, compared with the cisgender female group. No such differences were detected between the transgender AMAB and cisgender male groups. Our findings are broadly in line with predictions derived from the EMB theory, though as no transgender AFAB participants reported being heterosexual, it was not possible to determine whether these effects relate specifically to gender identity, to sexual orientation, or to both.
    MeSH term(s) Adult ; Autistic Disorder/diagnosis ; Autistic Disorder/psychology ; Brain ; Empathy ; Female ; Gender Identity ; Humans ; Infant, Newborn ; Male ; Transgender Persons/psychology
    Language English
    Publishing date 2022-04-25
    Publishing country United States
    Document type Journal Article
    ZDB-ID 184221-3
    ISSN 1573-2800 ; 0004-0002
    ISSN (online) 1573-2800
    ISSN 0004-0002
    DOI 10.1007/s10508-021-02251-x
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    Zs.A 1106: Show issues Location:
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  8. Article ; Online: Mapping genotype to phenotype in neurodevelopmental copy number variants.

    Warrier, Varun / Baron-Cohen, Simon

    The lancet. Psychiatry

    2019  Volume 6, Issue 6, Page(s) 455–456

    MeSH term(s) Case-Control Studies ; Child ; DNA Copy Number Variations ; Genetic Association Studies ; Genotype ; Humans ; Phenotype ; United Kingdom
    Language English
    Publishing date 2019-05-02
    Publishing country England
    Document type Journal Article ; Comment
    ISSN 2215-0374
    ISSN (online) 2215-0374
    DOI 10.1016/S2215-0366(19)30163-4
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  9. Article ; Online: The genetic relationships between brain structure and schizophrenia.

    Stauffer, Eva-Maria / Bethlehem, Richard A I / Dorfschmidt, Lena / Won, Hyejung / Warrier, Varun / Bullmore, Edward T

    Nature communications

    2023  Volume 14, Issue 1, Page(s) 7820

    Abstract: Genetic risks for schizophrenia are theoretically mediated by genetic effects on brain structure but it has been unclear which genes are associated with both schizophrenia and cortical phenotypes. We accessed genome-wide association studies (GWAS) of ... ...

    Abstract Genetic risks for schizophrenia are theoretically mediated by genetic effects on brain structure but it has been unclear which genes are associated with both schizophrenia and cortical phenotypes. We accessed genome-wide association studies (GWAS) of schizophrenia (N = 69,369 cases; 236,642 controls), and of three magnetic resonance imaging (MRI) metrics (surface area, cortical thickness, neurite density index) measured at 180 cortical areas (N = 36,843, UK Biobank). Using Hi-C-coupled MAGMA, 61 genes were significantly associated with both schizophrenia and one or more MRI metrics. Whole genome analysis with partial least squares demonstrated significant genetic covariation between schizophrenia and area or thickness of most cortical regions. Genetic similarity between cortical areas was strongly coupled to their phenotypic covariance, and genetic covariation between schizophrenia and brain phenotypes was strongest in the hubs of structural covariance networks. Pleiotropically associated genes were enriched for neurodevelopmental processes and positionally concentrated in chromosomes 3p21, 17q21 and 11p11. Mendelian randomization analysis indicated that genetically determined variation in a posterior cingulate cortical area could be causal for schizophrenia. Parallel analyses of GWAS on bipolar disorder, Alzheimer's disease and height showed that pleiotropic association with MRI metrics was stronger for schizophrenia compared to other disorders.
    MeSH term(s) Humans ; Bipolar Disorder/diagnostic imaging ; Bipolar Disorder/genetics ; Brain/diagnostic imaging ; Brain/pathology ; Genome-Wide Association Study/methods ; Magnetic Resonance Imaging ; Phenotype ; Schizophrenia/diagnostic imaging ; Schizophrenia/genetics ; Mendelian Randomization Analysis
    Language English
    Publishing date 2023-11-28
    Publishing country England
    Document type Journal Article
    ZDB-ID 2553671-0
    ISSN 2041-1723 ; 2041-1723
    ISSN (online) 2041-1723
    ISSN 2041-1723
    DOI 10.1038/s41467-023-43567-7
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  10. Article ; Online: Childhood trauma, life-time self-harm, and suicidal behaviour and ideation are associated with polygenic scores for autism.

    Warrier, Varun / Baron-Cohen, Simon

    Molecular psychiatry

    2019  Volume 26, Issue 5, Page(s) 1670–1684

    Abstract: Autistic individuals experience significantly elevated rates of childhood trauma, self-harm and suicidal behaviour and ideation (SSBI). Is this purely the result of negative environmental experiences, or does this interact with genetic predisposition? In ...

    Abstract Autistic individuals experience significantly elevated rates of childhood trauma, self-harm and suicidal behaviour and ideation (SSBI). Is this purely the result of negative environmental experiences, or does this interact with genetic predisposition? In this study we investigated if a genetic predisposition for autism is associated with childhood trauma using polygenic scores (PGS) and genetic correlations in the UK Biobank (105,222 < N < 105,638), and tested potential mediators and moderators of the association between autism, childhood trauma and SSBI. Autism PGS were significantly associated with childhood trauma (max R
    MeSH term(s) Autistic Disorder/genetics ; Genetic Predisposition to Disease ; Humans ; Male ; Multifactorial Inheritance/genetics ; Risk Factors ; Self-Injurious Behavior/genetics ; Suicidal Ideation
    Language English
    Publishing date 2019-10-29
    Publishing country England
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 1330655-8
    ISSN 1476-5578 ; 1359-4184
    ISSN (online) 1476-5578
    ISSN 1359-4184
    DOI 10.1038/s41380-019-0550-x
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