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Sporadic ALS and rs12608932

Sporadic ALS and rs12608932. Amyotrophic lateral sclerosis Spoardic ALS estimated heritability: 0.35-0.85 . Located in intron of UNC13A gene on chromosome 19 Major allele: A Minor (risk) allele: C Unc13a Protein. Synaptic Vesicle. Neurotransmitter. www.alsa.org.

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Sporadic ALS and rs12608932

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  1. Sporadic ALS and rs12608932 Amyotrophic lateral sclerosis • Spoardic ALS estimated heritability: 0.35-0.85 • Located in intron of UNC13A gene on chromosome 19 • Major allele: A Minor (risk) allele: C Unc13a Protein Synaptic Vesicle Neurotransmitter www.alsa.org Broadie, K.S., et al. 2002.

  2. Two-stage GWAS Phase I: Genome wide study Phase II: Replication European ancestry Cases: 2,323 Controls: 9,013 Identified 58 SNPs with P<1.0x10-4 • Including rs12608932 (P =1.30x10-9, OR=1.25) European ancestry Cases: 2,532 Controls: 5,940 rs12608932 P= 1.86x10-6, OR=1.20 Combined P=2.50x10-14 Van Es, M., et al. 2009.

  3. Replication Studies French population (2010) 285 Cases and 285 Controls rs12608932 : P = 0.85 rs12608932 • Significant association not seen in all replication studies • Sample size too small (?) • Population dependence (?) East Asian population(2011) Japanese 1179 Cases and 1645 Controls P=0.67 Odds ratio = 1.02 Chinese 684 Cases and 830 Controls P=0.73 Odds ratio = 1.02 Association with Survivability (2012) • Monitored survivability of Dutch, Swedish, Belgian ancestry • Recessive model Patients with CC exhibited 5-10 months shorter survivability (than those with AC or AA) Daoud, H., et al. 2010 Iida, A., et al. 2011.

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