Jessica Trac, Jonguk Lee, Kai-Ho Fok, Brian Carrillo, Monica Farcas
Development of a synchronous motion-tracking and video capture tool for flexible ureteroscopy
Canadian Urological Association journal = Journal de l'Association des urologues du Canada
neurofilament heavychain gene nefh variants associated multiple neurodegenerative diseases however relationship als robustly explored still nefh commonly included genetic screening panels worldwide therefore aimed determine nefh variants modify als risk genetic data 11130 people als 7416 controls literature project mine analysed performed metaanalyses published casecontrol studies reporting nefh variants variant analysis nefh project mine wholegenome sequencing data fixedeffects metaanalysis found rare maf 1 missense variants tail domain nefh increase als risk 455 95 ci 213971 p 00001 project mine ultrarare nefh variants increased als risk 137 95 ci 114163 p 00007 rod domain variants mostly intronic appearing drive association 145 95 ci 118177 pmadsenbrowning 00007 pskato 0003 tail domain ultrarare maf 01 pathogenic missense variants also associated higher risk als 194 95 ci 086437 pmadsenbrowning 0039 supporting metaanalysis results finally several tail inframe deletions also found affect disease risk however protective pathogenic deletions found domain highlighting intricated architecture requires investigation showed nefh tail missense inframe deletion variants intronic rod variants risk factors als however variants large effect functional impact needs clarified studies therefore inclusion routine genetic screening panels reconsidered