Common variants in ACYP2 influence susceptibility to cisplatin-induced hearing loss
Menée initialement sur une cohorte de 238 patients pédiatriques atteints d'une tumeur cérébrale récemment diagnostiquée, puis validée sur une cohorte complémentaire de 68 patients, cette étude identifie un variant du gène ACYP2 conférant un risque de perte auditive suite à un traitement par cisplatine
Taking a genome-wide association study approach, we identified inherited genetic variations in ACYP2 associated with cisplatin-related ototoxicity (rs1872328: P = 3.9 × 10−8, hazard ratio = 4.5) in 238 children with newly diagnosed brain tumors, with independent replication in 68 similarly treated children. The ACYP2 risk variant strongly predisposed these patients to precipitous hearing loss and was related to ototoxicity severity. These results point to new biology underlying the ototoxic effects of platinum agents.
Nature Genetics , résumé, 2014