rs10926753 - PLD5

Magnitude 4.5 · 1 study on file

Reported associations

• Genome-wide association study identifies the first germline genetic variant associated with Erdheim Chester disease - Unknown journal (n.d.) · Unknown authors · PubMed 37561109

  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 ECD patients and 7,471 healthy donors was included in this study. Afterwards, 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-value=2.75×10−11; OR=2.09). This association was annotated to the SETBP1 gene,

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