GENE OVERVIEW OF KEY PUBLISHED STUDIES FOR ALS


GeneUNC13A
Other namesKIAA1032; Munc13-1; UNC13A
Gene nameprotein unc-13 homolog A
Gene inheritanceSALS genes
Discovery methodGWAS
Category 
Chromosome19p13.12
GRCh37 (hg19)Chr19:17712137-17799008 ( -)
GRCh38 (hg38)Chr19:17601328-17688314(-)
BackgroundThe aim of this study is to investigate the variant as a possible risk factor for developing ALS in a French population.
ResultA 2 test on basic allele counts showed no significant association between sporadic ALS and the rs12608932 variant (P = .85).
Mutations0
Patients0

BIOINFORMATICS

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Gen2Phen   LOVD   Orphanet Human Proteome Map Proteomics DB ALS Data Browser

TOP META-ANALYSIS RESULT FROM ALSGENE

For more details on this and other meta-analysis results in this region please visit the ALSGene database

ANIMAL MODELS

                               

KEY PUBLICATIONS (6)

First_AuthorYearTitlePaper
Chio2009A two-stage genome-wide association study of sporadic amyotrophic lateral sclerosisFull_Paper
Daoud2010Analysis of the UNC13A gene as a risk factor for sporadic amyotrophic lateral sclerosisFull_Paper
Daoud2010Resequencing of 29 Candidate Genes in Patients With Familial and Sporadic Amyotrophic Lateral SclerosisFull_Paper
Iida2011Replication analysis of SNPs on 9p212 and 19p133 with amyotrophic lateral sclerosis in East AsiansFull_Paper
Shatunov2010Chromosome 9p21 in sporadic amyotrophic lateral sclerosis in the UK and seven other countries: a genome-wide association studyFull_Paper
van Es2009Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosisFull_Paper

GENETIC VARIATIONS

SNP (rs)BasepairpvalueAuthorYearTermPaper
 1260893217752689 Chio2009GRCh37A two-stage genome-wide association study of sporadic amyotrophic lateral sclerosis
 1260893217752689 Daoud2010GRCh37Resequencing of 29 Candidate Genes in Patients With Familial and Sporadic Amyotrophic Lateral Sclerosis
 1260893217752689 Iida2011GRCh37Replication analysis of SNPs on 9p212 and 19p133 with amyotrophic lateral sclerosis in East Asians
 1260893217752689 Shatunov2010GRCh37Chromosome 9p21 in sporadic amyotrophic lateral sclerosis in the UK and seven other countries: a genome-wide association study
 12608932177526892.53E-14van Es2009GRCh37Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis