The KLC1 56836CC variant proved to exert a significant protective effect on the occurrence of MS (2.0% vs. 9.7%, P < 0.02; crude OR: 0.19, 95% CI: 0.04-0.82, P < 0.05; adjusted OR: 0.21, 95% CI: 0.018-0.88, P < 0.05).
To further assess KNS2 as a susceptibility gene for AD we analyzed 802 patients with sporadic AD and 286 controls, 134 longitudinally followed patients with mild cognitive impairment (MCI) and 39 cognitively stable controls for the rs8702 polymorphism.
Based on recombination and the absence of mutations in the coding region of KLC1, this gene can be excluded as a candidate gene in our mouse mutation and, where we have investigated, it is normal in human familial MND.
To investigate the role of KLC1 in a mouse motor neuron degeneration mutant that we are studying, we have identified mouse Klc1 gene sequences and mapped them with respect to our mutant locus.