Back to Search
Start Over
Mutation analysis of GLT8D1 and ARPP21 genes in amyotrophic lateral sclerosis patients from mainland China
- 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.
- Subjects :
- 0301 basic medicine
Aging
China
Biology
03 medical and health sciences
Exon
0302 clinical medicine
Exome Sequencing
medicine
Amyotrophic lateral sclerosis
CAMP-Regulated Phosphoprotein 21
Gene
Exome sequencing
Genetics
General Neuroscience
Amyotrophic Lateral Sclerosis
Glycosyltransferases
medicine.disease
Phosphoproteins
Exact test
030104 developmental biology
Cohort
Mutation
Mutation testing
Neurology (clinical)
Geriatrics and Gerontology
Negative Results
030217 neurology & neurosurgery
Developmental Biology
Subjects
Details
- ISSN :
- 15581497
- Volume :
- 85
- Database :
- OpenAIRE
- Journal :
- Neurobiology of aging
- Accession number :
- edsair.doi.dedup.....0336e5d8e47c049fa180196075db2898