rs1000083 - LIX1-AS1

Magnitude 4.5 · 1 study on file

Reported associations

• Variants in WFS1 and other Mendelian deafness genes are associated with cisplatin-associated ototoxicity - Unknown journal (n.d.) · Unknown authors · PubMed 28039263

  ABSTRACT: Purpose Cisplatin is one of the most commonly used chemotherapy drugs worldwide and one of the most ototoxic. We sought to identify genetic variants that modulate cisplatin-associated ototoxicity (CAO). Experimental Design We performed a genome-wide association study (GWAS) of CAO using quantitative audiometry (4-12 kHz) in 511 testicular cancer survivors of European genetic ancestry. We performed polygenic modeling and functional analyses using a variety of publicly available databases. We used an electronic health record cohort to replicate our top mechanistic finding. Results One SNP, rs62283056, in the first intron of Mendelian deafness gene WFS1 (wolframin ER transmembrane glycoprotein) and an expression quantitative trait locus (eQTL) for WFS1 met genome-wide significance

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