Table 4 Gene-based rare variant association analyses using Firth logistic regression comparing rare variant enrichment between the individual ONDRI cohorts, in genes identified as having differing enrichment by SKAT-O.

From: Contribution of rare variant associations to neurodegenerative disease presentation

  1. Due to limitations of SKAT-O and to account for the effects of age and sex, a Firth logistic regression was performed on each gene identified by SKAT-O to compare the enrichment of rare variants between the individual ONDRI disease cohorts. Only ancestry-matched participants were included in the analyses. Genes that had total rare variant counts <5, or with zero rare variants in one of the cohorts were excluded from analyses. Statistical analyses were performed using the R statistical software 3.6.0 in R Studio 1.1.463. *p < 0.05; **p < 0.005; ***p < 0.0005. Abbreviations: AD Alzheimer’s disease, ALS amyotrophic lateral sclerosis, CI confidence interval, CVD cerebrovascular disease, FTD frontotemporal dementia, MCI mild cognitive impairment, ONDRI Ontario Neurodegenerative Disease Research Initiative, PD Parkinson’s disease, SKAT-O the optimal unified Sequence Kernel Association Test.
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