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http://purl.uniprot.org/citations/26362888http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/26362888http://www.w3.org/2000/01/rdf-schema#comment"

Background

In search of the missing heritability in multiple sclerosis (MS), additional approaches adding to the genetic discoveries of large genome-wide association studies are warranted.

Objective

The objective of this research paper is to search for rare genetic MS risk variants in the genetically homogenous population of the isolated Faroe Islands.

Methods

Twenty-nine Faroese MS cases and 28 controls were genotyped with the HumanOmniExpressExome-chip. The individuals make up 1596 pair-combinations in which we searched for identical-by-descent shared segments using the PLINK-program.

Results

A segment spanning 63 SNPs with excess case-case-pair sharing was identified (0.00173 < p > 0.00212). A haplotype consisting of 42 of the 63 identified SNPs which spanned the entire the Sortilin-related vacuolar protein sorting 10 domain containing receptor 3 (SORCS3) gene had a carrier frequency of 0.34 in cases but was not present in any controls (p = 0.0008).

Conclusion

This study revealed an oversharing in case-case-pairs of a segment spanning 63 SNPs and the entire SORCS3. While not previously associated with MS, SORCS3 appears to be important in neuronal plasticity through its binding of neurotrophin factors and involvement in glutamate homeostasis. Although additional work is needed to scrutinise the genetic effect of the SORCS3-covering haplotype, this study suggests that SORCS3 may also be important in MS pathogenesis."xsd:string
http://purl.uniprot.org/citations/26362888http://purl.org/dc/terms/identifier"doi:10.1177/1352458515602338"xsd:string
http://purl.uniprot.org/citations/26362888http://purl.uniprot.org/core/author"Hillert J."xsd:string
http://purl.uniprot.org/citations/26362888http://purl.uniprot.org/core/author"Kyvik K.O."xsd:string
http://purl.uniprot.org/citations/26362888http://purl.uniprot.org/core/author"Binzer M."xsd:string
http://purl.uniprot.org/citations/26362888http://purl.uniprot.org/core/author"Imrell K."xsd:string
http://purl.uniprot.org/citations/26362888http://purl.uniprot.org/core/author"Stenager E."xsd:string
http://purl.uniprot.org/citations/26362888http://purl.uniprot.org/core/author"Binzer S."xsd:string
http://purl.uniprot.org/citations/26362888http://purl.uniprot.org/core/date"2016"xsd:gYear
http://purl.uniprot.org/citations/26362888http://purl.uniprot.org/core/name"Mult Scler"xsd:string
http://purl.uniprot.org/citations/26362888http://purl.uniprot.org/core/pages"733-740"xsd:string
http://purl.uniprot.org/citations/26362888http://purl.uniprot.org/core/title"Genetic analysis of the isolated Faroe Islands reveals SORCS3 as a potential multiple sclerosis risk gene."xsd:string
http://purl.uniprot.org/citations/26362888http://purl.uniprot.org/core/volume"22"xsd:string
http://purl.uniprot.org/citations/26362888http://www.w3.org/2004/02/skos/core#exactMatchhttp://purl.uniprot.org/pubmed/26362888
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