| Title |
Common variants in ACYP2 influence susceptibility to cisplatin-induced hearing loss
|
|---|---|
| Published in |
Nature Genetics, February 2015
|
| DOI | 10.1038/ng.3217 |
| Pubmed ID | |
| Authors |
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 |
| Abstract |
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. |
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X Demographics
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| United States | 8 | 32% |
| United Kingdom | 3 | 12% |
| Australia | 2 | 8% |
| Spain | 2 | 8% |
| United Arab Emirates | 1 | 4% |
| Bosnia and Herzegovina | 1 | 4% |
| Belgium | 1 | 4% |
| Canada | 1 | 4% |
| Italy | 1 | 4% |
| Other | 1 | 4% |
| Unknown | 4 | 16% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Members of the public | 13 | 52% |
| Scientists | 9 | 36% |
| Practitioners (doctors, other healthcare professionals) | 3 | 12% |
Mendeley demographics
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| South Africa | 2 | 2% |
| Singapore | 1 | <1% |
| France | 1 | <1% |
| Canada | 1 | <1% |
| Unknown | 127 | 96% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Researcher | 19 | 14% |
| Student > Master | 18 | 14% |
| Student > Ph. D. Student | 14 | 11% |
| Student > Doctoral Student | 12 | 9% |
| Other | 9 | 7% |
| Other | 32 | 24% |
| Unknown | 28 | 21% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 35 | 27% |
| Biochemistry, Genetics and Molecular Biology | 20 | 15% |
| Agricultural and Biological Sciences | 18 | 14% |
| Pharmacology, Toxicology and Pharmaceutical Science | 8 | 6% |
| Nursing and Health Professions | 4 | 3% |
| Other | 16 | 12% |
| Unknown | 31 | 23% |