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            <a:FirstGiven>Vista</a:FirstGiven>
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            <a:FirstGiven>Matthew J.</a:FirstGiven>
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              <r:String>Matthew J. Christmas</r:String>
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            <a:FirstGiven>Kathryn A.</a:FirstGiven>
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            <a:FirstGiven>Elinor K.</a:FirstGiven>
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            <a:FirstGiven>Jennifer</a:FirstGiven>
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              <r:String>Jennifer Meadows</r:String>
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            <a:FirstGiven>Kerstin</a:FirstGiven>
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              <r:String>Kerstin Lindblad-Toh</r:String>
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        <r:String xml:lang="en">Dog-human gene network colocalization links synaptic signalling and ubiquitination to compulsive disorders</r:String>
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          <r:URN>urn:ddi:se.researchdata:doi-10-17044-scilifelab-33339309.Individual-0:2.0</r:URN>
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          <r:String xml:lang="sv">Uppsala universitet</r:String>
          <r:String xml:lang="en">Uppsala University</r:String>
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      <r:Publisher>
        <r:PublisherName>
          <r:String xml:lang="sv">Uppsala universitet</r:String>
          <r:String xml:lang="en">Uppsala University</r:String>
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      <r:PublicationDate>
        <r:SimpleDate>2026-09-14</r:SimpleDate>
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        <r:IdentifierContent>10.17044/SCILIFELAB.33339309</r:IdentifierContent>
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      <r:Content xml:lang="en">Obsessive-compulsive disorder (OCD) is highly polygenic, and the largest genome-wide association study (GWAS) to date — 53,660 cases and 2,044,417 controls — identified only 30 loci, a small fraction of those expected to cause disease and too few to resolve the underlying biological pathways. Some dogs naturally develop a compulsive disorder (dogCD) with parallels to human OCD, and the distinctive population structure of pet dogs reduces sample sizes needed for discovery of associated loci. 

Here, we generated high-density genotypes (SNPsₘₐₓ = 9,885,182, MAF ≥ 1%) for 2,584 dogs with measures across 14 items and 3 factors describing the dogCD phenotypes using low-pass sequencing (mean depth = 0.83, s.d. = 0.35, N = 2,211) or SNP arrays (Axiom Canine Array A+B with 1,011,992 SNPs, N = 373) followed by imputation with the Dog10K reference panel. We tested for association using mixed-model approaches that account for population structure: MLMA-LOCO for the three latent factors and POLMM for 14 ordinal survey items and combined results to define a consensus set of non-overlapping associated loci.

We then use cross-species network colocalization to combine the GWAS in 2,584 dogs, recruited through the community science project Darwin's Ark, with the OCD GWAS, identifying a 165-gene network not discernible from the current human data alone. Combining dog and human GWAS implicates an inherited risk architecture largely outside current OCD pharmacotherapy and establishes pet dogs as a tractable model for psychiatric gene network discovery, particularly for conditions underpowered in human studies alone.

Data in storage includes Darwin's Ark genotype files:

- affy_round3 = Axiom Canine Array A+B with 1,011,992 SNPs, N = 411 mapped to CanFam3.1
- DA_MERGED_GENCOVE_AXIOM_QC5 = 3328 dogs &amp; 12518078 SNPs mapped to CanFam4. Imputed with the Dog10K reference panel. Dataset is merged from Axiom Canine array (lifted and imputed, N=411) and Gencove low-pass sequencing (mapped to Cf4 and imputed, N=2917). This is the dataset before separating them into 17 dogCD phenotypes.
- 17 sets of sumstats (ITEM*sumstats &amp; CCDF*_sumstats) from the GWAS of each items (N=14) and factor (N=3).
- ALLFAM_sex_age_phenos.txt includes all phenotypes and covariates for dogs included in each separate plink gwas files (OBS for CCDF1 and CCF2: dogs with factor scores with only one item loading to that factor are excluded).</r:Content>
    </r:Abstract>
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        <r:URN>urn:ddi:se.researchdata:doi-10-17044-scilifelab-33339309.TopicalCoverage:2.0</r:URN>
        <r:Subject xml:lang="en" controlledVocabularyID="3" controlledVocabularyName="Standard för svensk indelning av forskningsämnen 2025">Medical and Health Sciences</r:Subject>
        <r:Subject xml:lang="sv" controlledVocabularyID="3" controlledVocabularyName="Standard för svensk indelning av forskningsämnen 2025">Medicin och hälsovetenskap</r:Subject>
        <r:Subject xml:lang="en" controlledVocabularyID="10609" controlledVocabularyName="Standard för svensk indelning av forskningsämnen 2025">Genetics and Genomics</r:Subject>
        <r:Subject xml:lang="sv" controlledVocabularyID="10609" controlledVocabularyName="Standard för svensk indelning av forskningsämnen 2025">Genetik och genomik</r:Subject>
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