Genome-Wide Association Study Identifies the First Germline Genetic Variant Associated With Erdheim-Chester Disease.

ABSTRACT:

Objective

Erdheim-Chester disease (ECD) is rare histiocytosis with a wide range of clinical manifestations. Somatic mutations are key to the pathogenesis of the disease; however, the relationship between germline genetic variants and ECD has not been examined so far. The present study aims to explore the inherited genetic component of ECD by performing the first genome-wide association study.

Methods

After quality controls, a cohort of 255 patients with ECD and 7,471 healthy donors was included in this study. Afterward, a logistic regression followed by in silico functional annotation was performed.

Results

A signal at the 18q12.3 genomic region was identified as a new susceptibility locus for ECD (P = 2.75 × 10^-11 ; Odds Ratio = 2.09). This association was

SUBMITTER: Martinez-Lopez J 

PROVIDER: S-EPMC10841187 | biostudies-literature | 2024 Jan

REPOSITORIES: biostudies-literature