HFE genotypes, haemochromatosis diagnosis and clinical outcomes at age 80 years: a prospective cohort study in the UK Biobank.

ABSTRACT:

Objectives

HFE haemochromatosis genetic variants have an uncertain clinical penetrance, especially to older ages and in undiagnosed groups. We estimated p.C282Y and p.H63D variant cumulative incidence of multiple clinical outcomes in a large community cohort.

Design

Prospective cohort study.

Setting

22 assessment centres across England, Scotland, and Wales in the UK Biobank (2006-2010).

Participants

451 270 participants genetically similar to the 1000 Genomes European reference population, with a mean of 13.3-year follow-up through hospital inpatient, cancer registries and death certificate data.

Main outcome measures

Cox proportional HRs of incident clinical outcomes and mortality in those with HFE p.C282Y/p.H63D mutations compared with th

SUBMITTER: Lucas MR 

PROVIDER: S-EPMC10936495 | biostudies-literature | 2024 Mar

REPOSITORIES: biostudies-literature