A rare variant of the TYK2 gene is confirmed to be associated with multiple sclerosis

Inger-Lise Mero; Aslaug R Lorentzen; Maria Ban; Cathrine Smestad; Elisabeth G Celius; Jan H Aarseth; Kjell-Morten Myhr; Jenny Link; Jan Hillert; Tomas Olsson; Ingrid Kockum; Thomas Masterman; Annette Bang Oturai; Helle Bach Søndergaard; Finn Sellebjerg; Janna Saarela; Anu Kemppinen; Irina Elovaara; Anne Spurkland; Frank Dudbridge; Benedicte A Lie; Hanne F Harbo

doi:http://dx.doi.org/10.1038/ejhg.2009.195

A rare variant of the TYK2 gene is confirmed to be associated with multiple sclerosis

Inger-Lise Mero, Aslaug R Lorentzen, Maria Ban, Cathrine Smestad, Elisabeth G Celius, Jan H Aarseth, Kjell-Morten Myhr, Jenny Link, Jan Hillert, Tomas Olsson, Ingrid Kockum, Thomas Masterman, Annette Bang Oturai, Helle Bach Søndergaard, Finn Sellebjerg, Janna Saarela, Anu Kemppinen, Irina Elovaara, Anne Spurkland, Frank DudbridgeBenedicte A Lie, Hanne F Harbo

Institut for Klinisk Medicin

50 Citationer (Scopus)

Abstract

A rare functional variant within the TYK2 gene (rs34536443) has been reported as protective in multiple sclerosis (MS) in recent studies. However, because of the low frequency of the minor allele (minor allele frequency0.04), genome-wide significant association has been hard to establish. We genotyped 5429 Nordic MS cases and 6167 healthy controls for this TYK2 non-synonymous single-nucleotide polymorphism (ns-SNP), and combined the Nordic genotype data with raw genotypes from previous studies. The combined Nordic analysis showed significant association with MS (P5 × 10 4, odds ratio (OR) 0.78), and by mega-analysis of 10 642 MS patients, 10 620 controls and 2110 MS trios, the association at genome-wide significance level (P5.08 × 10 9, OR 0.77) was shown.

Originalsprog	Engelsk
Tidsskrift	European Journal of Human Genetics
Vol/bind	18
Udgave nummer	4
Sider (fra-til)	502-4
Antal sider	3
ISSN	1018-4813
DOI	https://doi.org/10.1038/ejhg.2009.195
Status	Udgivet - 1 apr. 2010

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http://dx.doi.org/10.1038/ejhg.2009.195

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Mero, I-L., Lorentzen, A. R., Ban, M., Smestad, C., Celius, E. G., Aarseth, J. H., Myhr, K-M., Link, J., Hillert, J., Olsson, T., Kockum, I., Masterman, T., Oturai, A. B., Søndergaard, H. B., Sellebjerg, F., Saarela, J., Kemppinen, A., Elovaara, I., Spurkland, A., ... Harbo, H. F. (2010). A rare variant of the TYK2 gene is confirmed to be associated with multiple sclerosis. European Journal of Human Genetics, 18(4), 502-4. https://doi.org/10.1038/ejhg.2009.195

Mero, I-L, Lorentzen, AR, Ban, M, Smestad, C, Celius, EG, Aarseth, JH, Myhr, K-M, Link, J, Hillert, J, Olsson, T, Kockum, I, Masterman, T, Oturai, AB, Søndergaard, HB, Sellebjerg, F, Saarela, J, Kemppinen, A, Elovaara, I, Spurkland, A, Dudbridge, F, Lie, BA & Harbo, HF 2010, 'A rare variant of the TYK2 gene is confirmed to be associated with multiple sclerosis', European Journal of Human Genetics, bind 18, nr. 4, s. 502-4. https://doi.org/10.1038/ejhg.2009.195

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title = "A rare variant of the TYK2 gene is confirmed to be associated with multiple sclerosis",

abstract = "A rare functional variant within the TYK2 gene (rs34536443) has been reported as protective in multiple sclerosis (MS) in recent studies. However, because of the low frequency of the minor allele (minor allele frequency0.04), genome-wide significant association has been hard to establish. We genotyped 5429 Nordic MS cases and 6167 healthy controls for this TYK2 non-synonymous single-nucleotide polymorphism (ns-SNP), and combined the Nordic genotype data with raw genotypes from previous studies. The combined Nordic analysis showed significant association with MS (P5 × 10 4, odds ratio (OR) 0.78), and by mega-analysis of 10 642 MS patients, 10 620 controls and 2110 MS trios, the association at genome-wide significance level (P5.08 × 10 9, OR 0.77) was shown.",

author = "Inger-Lise Mero and Lorentzen, {Aslaug R} and Maria Ban and Cathrine Smestad and Celius, {Elisabeth G} and Aarseth, {Jan H} and Kjell-Morten Myhr and Jenny Link and Jan Hillert and Tomas Olsson and Ingrid Kockum and Thomas Masterman and Oturai, {Annette Bang} and S{\o}ndergaard, {Helle Bach} and Finn Sellebjerg and Janna Saarela and Anu Kemppinen and Irina Elovaara and Anne Spurkland and Frank Dudbridge and Lie, {Benedicte A} and Harbo, {Hanne F}",

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doi = "http://dx.doi.org/10.1038/ejhg.2009.195",

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T1 - A rare variant of the TYK2 gene is confirmed to be associated with multiple sclerosis

AU - Mero, Inger-Lise

AU - Lorentzen, Aslaug R

AU - Ban, Maria

AU - Smestad, Cathrine

AU - Celius, Elisabeth G

AU - Aarseth, Jan H

AU - Myhr, Kjell-Morten

AU - Link, Jenny

AU - Hillert, Jan

AU - Olsson, Tomas

AU - Kockum, Ingrid

AU - Masterman, Thomas

AU - Oturai, Annette Bang

AU - Søndergaard, Helle Bach

AU - Sellebjerg, Finn

AU - Saarela, Janna

AU - Kemppinen, Anu

AU - Elovaara, Irina

AU - Spurkland, Anne

AU - Dudbridge, Frank

AU - Lie, Benedicte A

AU - Harbo, Hanne F

PY - 2010/4/1

Y1 - 2010/4/1

N2 - A rare functional variant within the TYK2 gene (rs34536443) has been reported as protective in multiple sclerosis (MS) in recent studies. However, because of the low frequency of the minor allele (minor allele frequency0.04), genome-wide significant association has been hard to establish. We genotyped 5429 Nordic MS cases and 6167 healthy controls for this TYK2 non-synonymous single-nucleotide polymorphism (ns-SNP), and combined the Nordic genotype data with raw genotypes from previous studies. The combined Nordic analysis showed significant association with MS (P5 × 10 4, odds ratio (OR) 0.78), and by mega-analysis of 10 642 MS patients, 10 620 controls and 2110 MS trios, the association at genome-wide significance level (P5.08 × 10 9, OR 0.77) was shown.

AB - A rare functional variant within the TYK2 gene (rs34536443) has been reported as protective in multiple sclerosis (MS) in recent studies. However, because of the low frequency of the minor allele (minor allele frequency0.04), genome-wide significant association has been hard to establish. We genotyped 5429 Nordic MS cases and 6167 healthy controls for this TYK2 non-synonymous single-nucleotide polymorphism (ns-SNP), and combined the Nordic genotype data with raw genotypes from previous studies. The combined Nordic analysis showed significant association with MS (P5 × 10 4, odds ratio (OR) 0.78), and by mega-analysis of 10 642 MS patients, 10 620 controls and 2110 MS trios, the association at genome-wide significance level (P5.08 × 10 9, OR 0.77) was shown.

U2 - http://dx.doi.org/10.1038/ejhg.2009.195

DO - http://dx.doi.org/10.1038/ejhg.2009.195

M3 - Journal article

SN - 1018-4813

VL - 18

SP - 502

EP - 504

JO - European Journal of Human Genetics

JF - European Journal of Human Genetics

IS - 4

ER -

A rare variant of the TYK2 gene is confirmed to be associated with multiple sclerosis

Abstract

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