Table 3 Gene-based rare variant association analyses using Firth logistic regression comparing rare variant enrichment in the ONDRI cohorts compared to the control cohort, 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 in the respective ONDRI cohorts in comparison to a cognitively normal control cohort. 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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