Fig. 1: Rare variant association analysis to analyse enrichment of putative loss of function rare variants in disease-associated gene groupings.
From: Contribution of rare variant associations to neurodegenerative disease presentation
Multinomial logistic regressions adjusted for age, sex, and disease prevalence were performed to analyse enrichment of putative loss of function variants (including stop-gain, stop-loss, frameshift, splice acceptor, and splice donor sequence ontologies) identified in the 80 genes encompassed by the ONDRISeq panel, which were binned into four disease-associated gene groupings across the ONDRI cohorts compared to the control cohort. Only ancestry-matched participants were included in the analyses. The brglm2 R package was used to fit the regression model and apply a mean bias reduction accounting for the low variant-positive counts. *p < 0.05. Abbreviations: AD Alzheimer’s disease, ALS amyotrophic lateral sclerosis, CVD cerebrovascular disease, FTD frontotemporal dementia, LOF loss of function, MCI mild cognitive impairment, ONDRI Ontario Neurodegenerative Disease Research Initiative, PD Parkinson’s disease.
