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Table 2 Variants significantly associated with age at onset or survival after onset

From: Genetic modifiers in carriers of repeat expansions in the C9ORF72 gene

Variant (gene/disease group) Number of patients with each genotypea Model Association measure (95% CI) P-value
Age at onset (overall)    Regression coefficient  
rs7018487 (UBAP1) 122 / 96 / 23 Additive −2.62 (−4.36, −0.89) 0.003
rs6052771 (PRNP) 92 / 104 / 46 Recessive 4.42 (1.51, 7.32) 0.003
rs7403881 (MT-Ie) 65 / 118 / 60 Dominant 3.95 (1.36, 6.54) 0.003
Survival after onset (overall)    Relative risk  
rs5848 (GRN) 116 / 86 / 19 Additive 1.64 (1.22, 2.22) 0.001
Survival after onset (disease subgroups)   Relative risk  
rs7403881 (MT-Ie): FTD 13 / 31 / 14 Recessiveb 3.81 (1.71, 8.46) 0.001
rs13268953 (ELP3): FTD 16 / 31 / 11 Recessive 3.65 (1.56, 8.55) 0.003
Epsilon 4 (APOE): FTD 42 / 13 / 2 Dominant 3.13 (1.45, 6.74) 0.004
rs12608932 (UNC13A): MND 44 / 40 / 23 Recessiveb 5.65 (1.82, 17.58) 0.003
rs1800435 (ALAD): MND 88 / 18 / 1 Dominant N/Ac 0.003
  1. Association measure = regression coefficient (age at onset analysis) and relative risk (survival after onset analysis); CI = confidence interval. Additive models, dominant models, and recessive models were utilized. We adjusted for multiple testing using a false discovery rate (FDR) of 10%. aOrder of genotypes: major-major/major-minor/minor-minor. bIndicates that the variant was also significantly associated with the given outcome under an additive model. cFor rs1800435, none of the 19 MND patients (0.0%) who carried the minor allele died as compared to 14 of 78 MND patients (15.9%) who did not carry the minor allele; the p-value of 0.003 results from a log-rank test. The strongest association with the given outcome is displayed in this table; other associations are shown in Additional file 1: Table S2 (age at onset) and Additional file 1: Table S3 (survival after onset).