Residual association at C9orf72 suggests an alternative amyotrophic lateral sclerosis-causing hexanucleotide repeat.
Bottom Line: Single-nucleotide polymorphism rs3849942 is associated with ALS, tagging a hexanucleotide repeat mutation in the C9orf72 gene.Genome-wide association testing was performed first using all samples, and then restricting the analysis to samples not carrying the mutation. rs3849942 and rs903603 were strongly associated with ALS when all samples were included (rs3849942, p = [3 × 2] × 10(-6), rank 7/442,057; rs903603, p = [7 × 6] × 10(-8), rank 2/442,057).These results indicate residual association at the C9orf72 locus suggesting a second disease-causing repeat mutation.
Affiliation: King's College London, Institute of Psychiatry, Department of Clinical Neuroscience, London, UK.Show MeSH
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Affiliation: King's College London, Institute of Psychiatry, Department of Clinical Neuroscience, London, UK.