Common variants in ACYP2 influence susceptibility to cisplatin-induced hearing loss

Heng Xu, Giles W. Robinson, Jie Huang, Joshua Yew Suang Lim, Hui Zhang, Johnnie K. Bass, Alberto Broniscer, Murali Chintagumpala, Ute Bartels, Sri Gururangan, Tim Hassall, Michael Fisher, Richard Cohn, Tetsuji Yamashita, Tal Teitz, Jian Zuo, Arzu Onar-Thomas, Amar Gajjar, Clinton F. Stewart, Jun J. Yang*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

90 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)263-266
Number of pages4
JournalNature Genetics
Issue number3
StatePublished - Feb 25 2015

ASJC Scopus subject areas

  • Genetics


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