Copy number variations in multiple sclerosis
Year: 2014
Type: article
Study design: Observational Study
Abstract: Current SNP genotyping arrays for genome wide association studies (GWA) are used to study both SNPs and CNVs. We conducted a GWA study for multiple sclerosis (MS) using 68 distantly related MS cases from Finnish subisolate with high risk for MS in Southern Ostrobotnia and the Illumina HumanHap300 chip. We identified 106 CNV regions in the MS cases with QuantiSNP v1.0 software, and confirmed the data by visual inspection of the BeadStudio intensity data. Common pathways were searched for genes mapping to or near the identified CNV regions. We found one pathway involving five genes, ERBB4, NRG3, DLG2, UTRN and LARGE, regulating oligodendrocyte development and survival. An in house-built genotyping method was used to genotype three of the deletions in the pathway in a large nation-wide sample set of both cases and controls. Evidence for association was not found.
Source: Työväentutkimus Vuosikirja
Author: Sulonen, Anna-Maija
Language: English
Subfield: Clinical Neurology
Field: Medicine
Domain: Health Sciences
Open Access status: green
OpenAlex ID: W2748940347