Exome sequencing identifies a novel multiple sclerosis susceptibility variant in the TYK2 gene.

Journal article

OBJECTIVE: To identify rare variants contributing to multiple sclerosis (MS) susceptibility in a family we have previously reported with up to 15 individuals affected across 4 generations. METHODS: We performed exome sequencing in a subset of affected individuals to identify novel variants contributing to MS risk within this unique family. The candidate variant was genotyped in a validation cohort of 2,104 MS trio families. RESULTS: Four family members with MS were sequenced and 21,583 varia...

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Authors: Dyment, D; Cader, M; Chao, M; Lincoln, MR; Morrison, K

• Publication status: Published
• Journal: Neurology
• Volume: 79
• Issue: 5
• Pages: 406-411
• Publication date: 2012-07-01
• DOI: 10.1212/wnl.0b013e3182616fc4
• EISSN: 1526-632X
• ISSN: 0028-3878
• Language: English
• Keywords: TYK2 Kinase; Adolescent; Male; Base Sequence; Genetic Linkage; Genome-Wide Association Study; Female; Exome; Chi-Square Distribution; Middle Aged; Genetic Predisposition to Disease; Genotype; DNA Mutational Analysis; Family Health; Multiple Sclerosis; Genetic Variation; Young Adult; Humans; Adult