Effects of Rare Coding Variants in Severe Early-Onset Obesity Genes in the Population-Based UK Biobank Study
This study provides the population-specific report of variant penetrance of known obesity genes and confirmed the heterozygous rare variant effects in MC4R, POMC, and PCSK1. We also underscore the utility of population-based studies in supporting variant classifications.
Authors
- I. Sadaf Farooqi (ORCID: https://orcid.org/0000-0001-7609-3504)
- Stephen O’Rahilly (ORCID: https://orcid.org/0000-0003-2199-4449)
- Ken K. Ong (ORCID: https://orcid.org/0000-0003-4689-7530)
- Brian Y.H. Lam (ORCID: https://orcid.org/0000-0002-3638-9025)
- John R. B. Perry (ORCID: https://orcid.org/0000-0001-6483-3771)
- Eugene J. Gardner (ORCID: https://orcid.org/0000-0001-9671-1533)
- Katherine A. Kentistou (ORCID: https://orcid.org/0000-0002-5816-664X)
- Felix R. Day (ORCID: https://orcid.org/0000-0003-3789-7651)
- Raina Jia (ORCID: https://orcid.org/0000-0003-2234-8238)
- Yajie Zhao (ORCID: https://orcid.org/0000-0002-2747-0219)
- Sam M. Lockhart (ORCID: https://orcid.org/0000-0003-2092-4350)
Institutions
- Queen's University Belfast (GB)
- University of Cambridge (GB)
- Cambridge School (PT)
- Bridge University (SS)
- Wellcome/MRC Institute of Metabolic Science (GB)
- MRC Epidemiology Unit (GB)
Publication Details
- Journal
- The Journal of Clinical Endocrinology & Metabolism
- Published
- 2025-02-27
- DOI
- https://doi.org/10.1210/clinem/dgaf132
- Citations
- 2
- Primary Topic
- Nutrition, Genetics, and Disease
- Type
- article
- Field-Weighted Citation Impact
- 3.63
Funders
- Medical Research Council