Genetic correlations among psychiatric and immune-related phenotypes based on genome-wide association data

UMMS Affiliation

Department of Quantitative Health Sciences

Publication Date


Document Type



Genetics and Genomics | Immune System Diseases | Medical Genetics | Mental Disorders


Individuals with psychiatric disorders have elevated rates of autoimmune comorbidity and altered immune signaling. It is unclear whether these altered immunological states have a shared genetic basis with those psychiatric disorders. The present study sought to use existing summary-level data from previous genome-wide association studies to determine if commonly varying single nucleotide polymorphisms are shared between psychiatric and immune-related phenotypes. We estimated heritability and examined pair-wise genetic correlations using the linkage disequilibrium score regression (LDSC) and heritability estimation from summary statistics methods. Using LDSC, we observed significant genetic correlations between immune-related disorders and several psychiatric disorders, including anorexia nervosa, attention deficit-hyperactivity disorder, bipolar disorder, major depression, obsessive compulsive disorder, schizophrenia, smoking behavior, and Tourette syndrome. Loci significantly mediating genetic correlations were identified for schizophrenia when analytically paired with Crohn's disease, primary biliary cirrhosis, systemic lupus erythematosus, and ulcerative colitis. We report significantly correlated loci and highlight those containing genome-wide associations and candidate genes for respective disorders. We also used the LDSC method to characterize genetic correlations among the immune-related phenotypes. We discuss our findings in the context of relevant genetic and epidemiological literature, as well as the limitations and caveats of the study.


C-reactive protein, Crohn's disease, Tourette syndrome, allergy, anorexia nervosa, attention deficit-hyperactivity disorder, autoimmune disorder, bipolar disorder, celiac disease, childhood ear infection, genetic correlation, genome-wide association, hypothyroidism, major depression, neuroticism, obsessive schizophrenia, primary biliary cirrhosis, rheumatoid arthritis, smoking, systemic lupus erythematosus, tuberculosis susceptibility, type 1 diabetes, ulcerative colitis

DOI of Published Version



Am J Med Genet B Neuropsychiatr Genet. 2018 Oct;177(7):641-657. doi: 10.1002/ajmg.b.32652. Epub 2018 Oct 16. Link to article on publisher's site

Journal/Book/Conference Title

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

PubMed ID



Full author list omitted for brevity. For the full list of authors, see article.

Related Resources

Link to Article in PubMed