Estimating overdiagnosis in giant cell arteritis diagnostic pathways using genetic data: genetic association study.

ABSTRACT:

Objectives

GCA can be confirmed by temporal artery biopsy (TAB) but false negatives can occur. GCA may be overdiagnosed in TAB-negative cases, or if neither TAB nor imaging is done. We used HLA genetic association of TAB-positive GCA as an 'unbiased umpire' test to estimate historic overdiagnosis of GCA.

Methods

Patients diagnosed with GCA between 1990 and 2014 were genotyped. During this era, vascular imaging alone was rarely used to diagnose GCA. HLA region variants were jointly imputed from genome-wide genotypic data of cases and controls. Per-allele frequencies across all HLA variants with P < 1.0 × 10-5 were compared with population control data to estimate overdiagnosis rates in cases without a positive TAB.

Results

Genetic data from 663 GCA patients were compar

SUBMITTER: Chatzigeorgiou C 

PROVIDER: S-EPMC11292050 | biostudies-literature | 2024 Aug

REPOSITORIES: biostudies-literature