Testing for pharmacogenomic predictors of ppRNFL thinning in individuals exposed to vigabatrin.

Isabelle Boothman, Lisa M Clayton,Mark McCormack, Alexandra McKibben Driscoll,Remi Stevelink,Patrick Moloney,Roland Krause,Wolfram S Kunz,Sarah Diehl, Terence J O'Brien,Graeme J Sills,Gerrit-Jan de Haan,Federico Zara,Bobby P Koeleman,Chantal Depondt,Anthony G Marson, Hreinn Stefansson,Kari Stefansson,John Craig,Michael R Johnson,Pasquale Striano,Holger Lerche,Simon J Furney,Norman Delanty,Sanjay M Sisodiya,Gianpiero L Cavalleri

Frontiers in neuroscience（2023）

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摘要

We set out to identify common genetic predictors for VGB induced ppRNFL thinning. Results suggest that large-effect common genetic predictors are unlikely to exist for ppRNFL thinning (as a marker of VAVFL). Sample size was a limitation of this study. However, further recruitment is a challenge as VGB is rarely used today because of this adverse reaction. Rare variants may be predictors of this adverse drug reaction and were not studied here.

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关键词

adverse drug reaction, epilepsy, retina, genome wide association study, polygenic risk score

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