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

Neurology

Volumn 79, Issue 5, 2012, Pages 406-411

  Dyment, David A ^a   Cader, M Zameel ^b,c   Chao, Michael J ^c,d   Lincoln, Matthew R ^d   Morrison, Katie M ^c,d   Disanto, Giulio ^c,d   Morahan, Julia M ^c,d   De Luca, Gabriele C ^c,d   Sadovnick, A Dessa ^e   Lepage, Pierre ^f   Montpetit, Alexandre ^f   Ebers, George C ^c,d   Ramagopalan, Sreeram V ^c,d  

^a UNIVERSITY OF OTTAWA   (Canada)

^b UNIVERSITY OF OXFORD   (United Kingdom)

^c UNIVERSITY OF OXFORD   (United Kingdom)

^d UNIVERSITY OF OXFORD   (United Kingdom)

^e UNIVERSITY OF BRITISH COLUMBIA   (Canada)

^f MCGILL UNIVERSITY   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

CD40 ANTIGEN; CD6 ANTIGEN; INTERFERON CONSENSUS SEQUENCE BINDING PROTEIN; INTERLEUKIN 2 RECEPTOR ALPHA; INTERLEUKIN 7 RECEPTOR; LYMPHOCYTE FUNCTION ASSOCIATED ANTIGEN 3; PROTEIN KINASE TYK2; STAT3 PROTEIN; TUMOR NECROSIS FACTOR RELATED APOPTOSIS INDUCING LIGAND RECEPTOR;

ADOLESCENT; ADULT; ARTICLE; EXOME; GENE EXPRESSION; GENE MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; GENOTYPE; HAPLOTYPE; HUMAN; LOSS OF FUNCTION MUTATION; MISSENSE MUTATION; MULTIPLE SCLEROSIS; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM;

EID: 84866053994     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/WNL.0b013e3182616fc4     Document Type: Article

References (24)

1. Ascherio A, Munger KL. Environmental risk factors for multiple sclerosis: part I: the role of infection. Ann Neurol 2007;61:288 -299.
2. Ascherio A, Munger KL. Environmental risk factors for multiple sclerosis: part II: noninfectious factors. Ann Neurol 2007;61:504 -513.
3. Ebers GC, Koopman WJ, Hader W, et al. The natural history of multiple sclerosis: a geographically based study: 8: familial multiple sclerosis. Brain 2000;123:641- 649.
4. Willer CJ, Dyment DA, Risch NJ, Sadovnick AD, Ebers GC. Twin concordance and sibling recurrence rates in multiple sclerosis. Proc Natl Acad Sci USA 2003;100: 12877-12882.
5. Dyment DA, Cader MZ, Willer CJ, Risch N, Sadovnick AD, Ebers GC. A multigenerational family with multiple sclerosis. Brain 2002;125:1474 -1482.
6. Dyment DA, Cader MZ, Herrera BM, et al. A genome scan in a single pedigree with a high prevalence of multiple sclerosis. J Neurol Neurosurg Psychiatry 2008;79:158-162.
7. Ng SB, Turner EH, Robertson PD, et al. Targeted capture and massively parallel sequencing of 12 human exomes. Nature 2009;461:272-276.
8. Langmead B, Trapnell C, Pop M, Salzberg SL. Ultrafast and memory-efficient alignment of short DNA sequences to the human genome. Genome Biol 2009;10:R25.
9. Li H, Handsaker B, Wysoker A, et al. The Sequence Alignment/ Map format and SAMtools. Bioinformatics 2009; 25:2078 -2079.
10. Ewing B, Green P. Base-calling of automated sequencer traces using phred II: error probabilities. Genome Res 1998;8:186 -194.
11. Adzhubei IA, Schmidt S, Peshkin L, et al. A method and server for predicting damaging missense mutations. Nat Methods 2010;7:248 -249.
12. Li H, Durbin R. Fast and accurate short read alignment with Burrows-Wheeler transform. Bioinformatics 2009; 25:1754 -1760.
13. Mukhopadhyay N, Almasy L, Schroeder M, Mulvihill WP, Weeks DE. Mega2: data-handling for facilitating genetic linkage and association analyses. Bioinformatics 2005;21:2556 -2557.
14. Sobel E, Lange K. Descent graphs in pedigree analysis: applications to haplotyping, location scores, and markersharing statistics. Am J Hum Genet 1996;58:1323-1337.
15. Kumar P, Henikoff S, Ng PC. Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm. Nat Protoc 2009;4:1073-1081.
16. Sobreira NL, Cirulli ET, Avramopoulos D, et al. Wholegenome sequencing of a single proband together with linkage analysis identifies a Mendelian disease gene. PLoS Genet 2010;6:e1000991.
17. Mero IL, Lorentzen AR, Ban M, et al. A rare variant of the TYK2 gene is confirmed to be associated with multiple sclerosis. Eur J Hum Genet 2010;18:502-504.
18. Ban M, Goris A, Lorentzen AR, et al. Replication analysis identifies TYK2 as a multiple sclerosis susceptibility factor. Eur J Hum Genet 2009;17:1309 -1313.
19. Johnson BA, Wang J, Taylor EM, et al. Multiple sclerosis susceptibility alleles in African Americans. Genes Immun 2010;11:343-350.
20. Cooper GM, Goode DL, Ng SB, et al. Single nucleotide evolutionary constraint scores highlight disease-causing mutations. Nat Methods 2010;7:250 -251.
21. Couturier N, Bucciarelli F, Nurtdinov RN, et al. Tyrosine kinase 2 variant influences T lymphocyte polarization and multiple sclerosis susceptibility. Brain 2011;134:693-703.
22. Szklarczyk D, Franceschini A, Kuhn M, et al. The STRING database in 2011: functional interaction networks of proteins, globally integrated and scored. Nucleic Acids Res 2011;39:D561-D568.
23. Ramagopalan SV, Morris AP, Dyment DA, et al. The inheritance of resistance alleles in multiple sclerosis. PLOS Genet 2007;9:1607-1613.
24. Cirulli ET, Goldstein DB. Uncovering the roles of rare variants in common disease through whole-genome sequencing. Nat Rev Genet 2010;11:415- 425.