The authors sequenced the PRPH gene in a cohort of 30 ALS patients, one of these (caucasian) was identified as homozygous for this variant. It was not seen in 100 caucasian control individuals.
Unsure how to calculate significance; the Fisher’s Exact test for case+: 2, case-: 58, control+: 0, control-: 200 is p=0.0526. However because the chances of both case+ occurring in the same individual out of 30 cases is much lower the significance is higher — perhaps (1 / 30) times the p-value = 0.00175.
The authors report that, in experiments with a transfected cell line with the D141Y variant gene, mutant peripherin was prone to form aggregates in