Work

Gene-based map of cardiometabolic diseases

Year: 2026

Type: preprint

Abstract: Cardiometabolic disorders are common, interrelated conditions with substantial genetic contribution. We performed sex- and ancestry-stratified rare-variant gene-burden analyses in UK Biobank across obesity, fatty liver disease, dyslipidemia, hypertension, chronic kidney disease, and diabetes mellitus, with Turkish Variome contributing to obesity analyses, using state-of-the-art variant classification tools. This approach replicated established gene–phenotype relationships and expanded the number of causal cardiometabolic gene–phenotype associations from 368 to 534. Complementary genetic-epidemiological analyses showed that approximately one in six individuals carries risk-increasing alleles and one in nine carries protective alleles.

Source: Research Square

DOI: 10.21203/rs.3.rs-10366105/v1

Authors: Barış Kayaalp, Kerem Çil, Onur Emre Onat, Tayfun Özçelik

Institutions: Bilkent University, Bezmiâlem Vakıf Üniversitesi

Language: English

Topic: Genetic Associations and Epidemiology

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: green

Funders: Fondation Leducq, Türkiye Bilimsel ve Teknolojik Araştırma Kurumu, Türkiye Bilimler Akademisi