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Mutation analysis of GLT8D1 and ARPP21 genes in amyotrophic lateral sclerosis patients from mainland China

Authors :
Jinchen Li
Jie Ni
Liangjuan Fang
Lu Shen
Yanchun Yuan
Weining Sun
Junling Wang
Wanzhen Li
Yiting Hu
Bin Jiao
Beisha Tang
Zhen Liu
Source :
Neurobiology of aging. 85
Publication Year :
2019

Abstract

Variants in exon 4 of gene encoding GLT8D1 (glycosyltransferase 8 domain containing 1) gene have recently been suggested as a novel cause of amyotrophic lateral sclerosis (ALS). In addition, there is a synergism between GLT8D1 and ARPP21 (cAMP Regulated Phosphoprotein 21) variants for ALS. However, this observation has not been validated in other ALS cohorts. In this study, we analyzed the rare pathogenic variants in GLT8D1 and ARPP21 genes in a cohort of 512 ALS patients and 3210 healthy controls from mainland China. A total of 25 rare variants in ARPP21 were identified in the patients and controls, but we did not find rare variants in exon 4 of GLT8D1 in the patients. By using Fisher's exact test, we did not find significant association between ALS and GLT8D1 or ARPP21. Therefore, GLT8D1 and ARPP21 are not likely the causative genes for ALS in mainland China.

Details

ISSN :
15581497
Volume :
85
Database :
OpenAIRE
Journal :
Neurobiology of aging
Accession number :
edsair.doi.dedup.....0336e5d8e47c049fa180196075db2898