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

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.

journal_name

Neurobiol Aging

journal_title

Neurobiology of aging

authors

Li W,Liu Z,Sun W,Yuan Y,Hu Y,Ni J,Jiao B,Fang L,Li J,Shen L,Tang B,Wang J

doi

10.1016/j.neurobiolaging.2019.09.013

subject

Has Abstract

pub_date

2020-01-01 00:00:00

pages

156.e1-156.e4

eissn

0197-4580

issn

1558-1497

pii

S0197-4580(19)30334-3

journal_volume

85

pub_type

杂志文章

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