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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.
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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10988411 | PMC |
http://dx.doi.org/10.1556/2006.2023.00075 | DOI Listing |
Breast Cancer Res
September 2025
Department of Immunology, Genetics and Pathology, Uppsala University, Uppsala, Sweden.
Background: Polygenic risk scores (PRS) are not yet standard in clinical risk assessments for familial breast cancer in Sweden. This study evaluated the distribution and impact of an established PRS (PRS) in women undergoing clinical sequencing for hereditary breast cancer.
Findings: We integrated PRS into a hereditary breast cancer gene panel used in clinical practice and calculated scores for 262 women.
Urol J
September 2025
Department of Child and Adolescent Psychiatry, Faculty of Medicine, Recep Tayyip Erdogan University, Rize, TURKIYE.
Purpose: This study aimed to investigate the genetic heterogeneity of primary monosymptomatic nocturnal enuresis (PMNE) and assess potential genetic variants contributing to its etiology.
Materials And Methods: A total of 92 children aged 5-15 years with a positive family history of PMNE were evaluated. All patients underwent detailed urological and nephrological assessments to exclude organic causes.
J Gene Med
September 2025
Genetic Center, Department of Medical Research, China Medical University Hospital, Taichung, Taiwan.
Background: Elevated serum levels of alanine aminotransferase (ALT) and aspartate aminotransferase (AST) are biomarkers of liver dysfunction and predictors of cirrhosis and liver cancer. While European-ancestry GWAS have identified hundreds of loci influencing these enzymes and driven drug discovery and personalized interventions, comparable genetic studies in Han Taiwanese and other East Asian populations remain lacking.
Methods: We performed GWAS of ALT (n = 137,312) and AST (n = 111,527) in Han Taiwanese to characterize liver enzyme genetics.
PLoS Genet
September 2025
Department of Epidemiology, Emory University Rollins School of Public Health, Atlanta, Georgia, United States of America.
Background And Objectives: Type 2 diabetes affects an increasing number of people worldwide. Although genome-wide association studies (GWAS) of type 2 diabetes have identified hundreds of loci, their interactions with other risk factors aren't well understood. We investigated genetic interactions with three sex hormones (total testosterone, bioavailable testosterone, and sex hormone binding globulin (SHBG)) to identify additional type 2 diabetes-related loci that were undetected in traditional GWAS.
View Article and Find Full Text PDFOphthalmic Genet
August 2025
The Vision Center and The Saban Research Institute, Children's Hospital Los Angeles, Los Angeles, California, USA.
Background: Optic nerve hypoplasia (ONH), the leading congenital cause of permanent blindness, is characterized by a retinal ganglion cell (RGC) deficit at birth and frequently associated neurologic and endocrine abnormalities. Multifactorial developmental events are hypothesized to underlie ONH; however, environmental influences are unclear, and genetic causes are under-investigated.
Methods: To identify monogenic, disease-causing variants among ONH patients, exomes from 34 ONH subjects and their parents were sequenced and rare variants identified.