ATG 10 BEHÇET

Description

This study explores the role of 25 autophagy-related genes in susceptibility to Behçet disease (BD using next-generation sequencing (NGS) in a discovery cohort of 58 Spanish BD patients. We used data from 107 individuals from the Iberian population of Spain (IBS population), included in phase 3 of the 1000 Genomes Project, as healthy controls. After validation in a larger cohort (378 patients and 385 local controls) using TaqMan assays, the rs1864182 in ATG10 was significantly associated with the disease in the allelic and recessive models. The association remains after p-correction (pc = 0.04). According to our results, having two copies of rs1864182His increased susceptibility risk to the disease independently of the HLA-B51 status.

Institutions

• Hospital Universitario Virgen del Rocío

  Andalusia, Seville

Categories

Funders

• Instituto de Salud Carlos III

  Ministerio de Ciencia, Innovación y Universidades

  Madrid, Madrid

  Grant ID: PI19/00605 and PI23/1703

Licence