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Identification of contributing genes and pathways may improve understanding of aetiology and facilitate therapy and prevention. Here, we report the first genome-wide association study of pathological gambling. Our aims were to identify pathways involved in pathological gambling, and examine whether there is a genetic overlap between pathological gambling and alcohol dependence.<\/jats:p><\/jats:sec><jats:sec id=\"S0924933800066268_sec0010\" sec-type=\"methods\"><jats:title>Methods<\/jats:title><jats:p>Four hundred and forty-five individuals with a diagnosis of pathological gambling according to the Diagnostic and Statistical Manual of Mental Disorders were recruited in Germany, and 986 controls were drawn from a German general population sample. A genome-wide association study of pathological gambling comprising single marker, gene-based, and pathway analyses, was performed. Polygenic risk scores were generated using data from a German genome-wide association study of alcohol dependence.<\/jats:p><\/jats:sec><jats:sec id=\"S0924933800066268_sec0015\" sec-type=\"results\"><jats:title>Results<\/jats:title><jats:p>No genome-wide significant association with pathological gambling was found for single markers or genes. Pathways for Huntington's disease (<jats:italic>P<\/jats:italic>-value = 6.63 \u00d7 10<jats:sup>\u22123<\/jats:sup>); 5\u2032-adenosine monophosphate-activated protein kinase signalling (<jats:italic>P<\/jats:italic>-value = 9.57 \u00d7 10<jats:sup>\u22123<\/jats:sup>); and apoptosis (<jats:italic>P<\/jats:italic>-value = 1.75 \u00d7 10<jats:sup>\u22122<\/jats:sup>) were significant. Polygenic risk score analysis of the alcohol dependence dataset yielded a one-sided nominal significant <jats:italic>P<\/jats:italic>-value in subjects with pathological gambling, irrespective of comorbid alcohol dependence status.<\/jats:p><\/jats:sec><jats:sec id=\"S0924933800066268_sec0020\" sec-type=\"conclusions\"><jats:title>Conclusions<\/jats:title><jats:p>The present results accord with previous quantitative formal genetic studies which showed genetic overlap between non-substance- and substance-related addictions. Furthermore, pathway analysis suggests shared pathology between Huntington's disease and pathological gambling. This finding is consistent with previous imaging studies.<\/jats:p><\/jats:sec>","DOI":"10.1016\/j.eurpsy.2016.04.001","type":"journal-article","created":{"date-parts":[[2016,6,15]],"date-time":"2016-06-15T12:36:06Z","timestamp":1465994166000},"page":"38-46","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":46,"title":["Genome-wide association study of pathological 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