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Genome-wide significant association with seven novel multiple sclerosis risk loci

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Genome-wide significant association with seven novel multiple sclerosis risk loci. / Lill, Christina M; Luessi, Felix; Alcina, Antonio; Sokolova, Ekaterina A; Ugidos, Nerea; de la Hera, Belén; Guillot-Noël, Léna; Malhotra, Sunny; Reinthaler, Eva; Schjeide, Brit-Maren M; Mescheriakova, Julia Y; Mashychev, Andriy; Wohlers, Inken; Akkad, Denis A; Aktas, Orhan; Alloza, Iraide; Antigüedad, Alfredo; Arroyo, Rafa; Astobiza, Ianire; Blaschke, Paul; Boyko, Alexei N; Buttmann, Mathias; Chan, Andrew; Dörner, Thomas; Epplen, Joerg T; Favorova, Olga O; Fedetz, Maria; Fernández, Oscar; García-Martínez, Angel; Gerdes, Lisa-Ann; Graetz, Christiane; Hartung, Hans-Peter; Hoffjan, Sabine; Izquierdo, Guillermo; Korobko, Denis S; Kroner, Antje; Kubisch, Christian; Kümpfel, Tania; Leyva, Laura; Lohse, Peter; Malkova, Nadezhda A; Montalban, Xavier; Popova, Ekaterina V; Rieckmann, Peter; Rozhdestvenskii, Alexei S; Schmied, Christiane; Smagina, Inna V; Tsareva, Ekaterina Y; Winkelmann, Alexander; Zettl, Uwe K; Binder, Harald; Cournu-Rebeix, Isabelle; Hintzen, Rogier; Zimprich, Alexander; Comabella, Manuel; Fontaine, Bertrand; Urcelay, Elena; Vandenbroeck, Koen; Filipenko, Maxim; Matesanz, Fuencisla; Zipp, Frauke; Bertram, Lars.

in: J MED GENET, Jahrgang 52, Nr. 12, 12.2015, S. 848-855.

Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung

Harvard

Lill, CM, Luessi, F, Alcina, A, Sokolova, EA, Ugidos, N, de la Hera, B, Guillot-Noël, L, Malhotra, S, Reinthaler, E, Schjeide, B-MM, Mescheriakova, JY, Mashychev, A, Wohlers, I, Akkad, DA, Aktas, O, Alloza, I, Antigüedad, A, Arroyo, R, Astobiza, I, Blaschke, P, Boyko, AN, Buttmann, M, Chan, A, Dörner, T, Epplen, JT, Favorova, OO, Fedetz, M, Fernández, O, García-Martínez, A, Gerdes, L-A, Graetz, C, Hartung, H-P, Hoffjan, S, Izquierdo, G, Korobko, DS, Kroner, A, Kubisch, C, Kümpfel, T, Leyva, L, Lohse, P, Malkova, NA, Montalban, X, Popova, EV, Rieckmann, P, Rozhdestvenskii, AS, Schmied, C, Smagina, IV, Tsareva, EY, Winkelmann, A, Zettl, UK, Binder, H, Cournu-Rebeix, I, Hintzen, R, Zimprich, A, Comabella, M, Fontaine, B, Urcelay, E, Vandenbroeck, K, Filipenko, M, Matesanz, F, Zipp, F & Bertram, L 2015, 'Genome-wide significant association with seven novel multiple sclerosis risk loci', J MED GENET, Jg. 52, Nr. 12, S. 848-855. https://doi.org/10.1136/jmedgenet-2015-103442

APA

Lill, C. M., Luessi, F., Alcina, A., Sokolova, E. A., Ugidos, N., de la Hera, B., Guillot-Noël, L., Malhotra, S., Reinthaler, E., Schjeide, B-M. M., Mescheriakova, J. Y., Mashychev, A., Wohlers, I., Akkad, D. A., Aktas, O., Alloza, I., Antigüedad, A., Arroyo, R., Astobiza, I., ... Bertram, L. (2015). Genome-wide significant association with seven novel multiple sclerosis risk loci. J MED GENET, 52(12), 848-855. https://doi.org/10.1136/jmedgenet-2015-103442

Vancouver

Lill CM, Luessi F, Alcina A, Sokolova EA, Ugidos N, de la Hera B et al. Genome-wide significant association with seven novel multiple sclerosis risk loci. J MED GENET. 2015 Dez;52(12):848-855. https://doi.org/10.1136/jmedgenet-2015-103442

Bibtex

@article{b4836c6a05fe4480b660e947c3e0cd5b,
title = "Genome-wide significant association with seven novel multiple sclerosis risk loci",
abstract = "OBJECTIVE: A recent large-scale study in multiple sclerosis (MS) using the ImmunoChip platform reported on 11 loci that showed suggestive genetic association with MS. Additional data in sufficiently sized and independent data sets are needed to assess whether these loci represent genuine MS risk factors.METHODS: The lead SNPs of all 11 loci were genotyped in 10 796 MS cases and 10 793 controls from Germany, Spain, France, the Netherlands, Austria and Russia, that were independent from the previously reported cohorts. Association analyses were performed using logistic regression based on an additive model. Summary effect size estimates were calculated using fixed-effect meta-analysis.RESULTS: Seven of the 11 tested SNPs showed significant association with MS susceptibility in the 21 589 individuals analysed here. Meta-analysis across our and previously published MS case-control data (total sample size n=101 683) revealed novel genome-wide significant association with MS susceptibility (p<5×10(-8)) for all seven variants. This included SNPs in or near LOC100506457 (rs1534422, p=4.03×10(-12)), CD28 (rs6435203, p=1.35×10(-9)), LPP (rs4686953, p=3.35×10(-8)), ETS1 (rs3809006, p=7.74×10(-9)), DLEU1 (rs806349, p=8.14×10(-12)), LPIN3 (rs6072343, p=7.16×10(-12)) and IFNGR2 (rs9808753, p=4.40×10(-10)). Cis expression quantitative locus effects were observed in silico for rs6435203 on CD28 and for rs9808753 on several immunologically relevant genes in the IFNGR2 locus.CONCLUSIONS: This study adds seven loci to the list of genuine MS genetic risk factors and further extends the list of established loci shared across autoimmune diseases.",
author = "Lill, {Christina M} and Felix Luessi and Antonio Alcina and Sokolova, {Ekaterina A} and Nerea Ugidos and {de la Hera}, Bel{\'e}n and L{\'e}na Guillot-No{\"e}l and Sunny Malhotra and Eva Reinthaler and Schjeide, {Brit-Maren M} and Mescheriakova, {Julia Y} and Andriy Mashychev and Inken Wohlers and Akkad, {Denis A} and Orhan Aktas and Iraide Alloza and Alfredo Antig{\"u}edad and Rafa Arroyo and Ianire Astobiza and Paul Blaschke and Boyko, {Alexei N} and Mathias Buttmann and Andrew Chan and Thomas D{\"o}rner and Epplen, {Joerg T} and Favorova, {Olga O} and Maria Fedetz and Oscar Fern{\'a}ndez and Angel Garc{\'i}a-Mart{\'i}nez and Lisa-Ann Gerdes and Christiane Graetz and Hans-Peter Hartung and Sabine Hoffjan and Guillermo Izquierdo and Korobko, {Denis S} and Antje Kroner and Christian Kubisch and Tania K{\"u}mpfel and Laura Leyva and Peter Lohse and Malkova, {Nadezhda A} and Xavier Montalban and Popova, {Ekaterina V} and Peter Rieckmann and Rozhdestvenskii, {Alexei S} and Christiane Schmied and Smagina, {Inna V} and Tsareva, {Ekaterina Y} and Alexander Winkelmann and Zettl, {Uwe K} and Harald Binder and Isabelle Cournu-Rebeix and Rogier Hintzen and Alexander Zimprich and Manuel Comabella and Bertrand Fontaine and Elena Urcelay and Koen Vandenbroeck and Maxim Filipenko and Fuencisla Matesanz and Frauke Zipp and Lars Bertram",
note = "Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions.",
year = "2015",
month = dec,
doi = "10.1136/jmedgenet-2015-103442",
language = "English",
volume = "52",
pages = "848--855",
journal = "J MED GENET",
issn = "0022-2593",
publisher = "BMJ PUBLISHING GROUP",
number = "12",

}

RIS

TY - JOUR

T1 - Genome-wide significant association with seven novel multiple sclerosis risk loci

AU - Lill, Christina M

AU - Luessi, Felix

AU - Alcina, Antonio

AU - Sokolova, Ekaterina A

AU - Ugidos, Nerea

AU - de la Hera, Belén

AU - Guillot-Noël, Léna

AU - Malhotra, Sunny

AU - Reinthaler, Eva

AU - Schjeide, Brit-Maren M

AU - Mescheriakova, Julia Y

AU - Mashychev, Andriy

AU - Wohlers, Inken

AU - Akkad, Denis A

AU - Aktas, Orhan

AU - Alloza, Iraide

AU - Antigüedad, Alfredo

AU - Arroyo, Rafa

AU - Astobiza, Ianire

AU - Blaschke, Paul

AU - Boyko, Alexei N

AU - Buttmann, Mathias

AU - Chan, Andrew

AU - Dörner, Thomas

AU - Epplen, Joerg T

AU - Favorova, Olga O

AU - Fedetz, Maria

AU - Fernández, Oscar

AU - García-Martínez, Angel

AU - Gerdes, Lisa-Ann

AU - Graetz, Christiane

AU - Hartung, Hans-Peter

AU - Hoffjan, Sabine

AU - Izquierdo, Guillermo

AU - Korobko, Denis S

AU - Kroner, Antje

AU - Kubisch, Christian

AU - Kümpfel, Tania

AU - Leyva, Laura

AU - Lohse, Peter

AU - Malkova, Nadezhda A

AU - Montalban, Xavier

AU - Popova, Ekaterina V

AU - Rieckmann, Peter

AU - Rozhdestvenskii, Alexei S

AU - Schmied, Christiane

AU - Smagina, Inna V

AU - Tsareva, Ekaterina Y

AU - Winkelmann, Alexander

AU - Zettl, Uwe K

AU - Binder, Harald

AU - Cournu-Rebeix, Isabelle

AU - Hintzen, Rogier

AU - Zimprich, Alexander

AU - Comabella, Manuel

AU - Fontaine, Bertrand

AU - Urcelay, Elena

AU - Vandenbroeck, Koen

AU - Filipenko, Maxim

AU - Matesanz, Fuencisla

AU - Zipp, Frauke

AU - Bertram, Lars

N1 - Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions.

PY - 2015/12

Y1 - 2015/12

N2 - OBJECTIVE: A recent large-scale study in multiple sclerosis (MS) using the ImmunoChip platform reported on 11 loci that showed suggestive genetic association with MS. Additional data in sufficiently sized and independent data sets are needed to assess whether these loci represent genuine MS risk factors.METHODS: The lead SNPs of all 11 loci were genotyped in 10 796 MS cases and 10 793 controls from Germany, Spain, France, the Netherlands, Austria and Russia, that were independent from the previously reported cohorts. Association analyses were performed using logistic regression based on an additive model. Summary effect size estimates were calculated using fixed-effect meta-analysis.RESULTS: Seven of the 11 tested SNPs showed significant association with MS susceptibility in the 21 589 individuals analysed here. Meta-analysis across our and previously published MS case-control data (total sample size n=101 683) revealed novel genome-wide significant association with MS susceptibility (p<5×10(-8)) for all seven variants. This included SNPs in or near LOC100506457 (rs1534422, p=4.03×10(-12)), CD28 (rs6435203, p=1.35×10(-9)), LPP (rs4686953, p=3.35×10(-8)), ETS1 (rs3809006, p=7.74×10(-9)), DLEU1 (rs806349, p=8.14×10(-12)), LPIN3 (rs6072343, p=7.16×10(-12)) and IFNGR2 (rs9808753, p=4.40×10(-10)). Cis expression quantitative locus effects were observed in silico for rs6435203 on CD28 and for rs9808753 on several immunologically relevant genes in the IFNGR2 locus.CONCLUSIONS: This study adds seven loci to the list of genuine MS genetic risk factors and further extends the list of established loci shared across autoimmune diseases.

AB - OBJECTIVE: A recent large-scale study in multiple sclerosis (MS) using the ImmunoChip platform reported on 11 loci that showed suggestive genetic association with MS. Additional data in sufficiently sized and independent data sets are needed to assess whether these loci represent genuine MS risk factors.METHODS: The lead SNPs of all 11 loci were genotyped in 10 796 MS cases and 10 793 controls from Germany, Spain, France, the Netherlands, Austria and Russia, that were independent from the previously reported cohorts. Association analyses were performed using logistic regression based on an additive model. Summary effect size estimates were calculated using fixed-effect meta-analysis.RESULTS: Seven of the 11 tested SNPs showed significant association with MS susceptibility in the 21 589 individuals analysed here. Meta-analysis across our and previously published MS case-control data (total sample size n=101 683) revealed novel genome-wide significant association with MS susceptibility (p<5×10(-8)) for all seven variants. This included SNPs in or near LOC100506457 (rs1534422, p=4.03×10(-12)), CD28 (rs6435203, p=1.35×10(-9)), LPP (rs4686953, p=3.35×10(-8)), ETS1 (rs3809006, p=7.74×10(-9)), DLEU1 (rs806349, p=8.14×10(-12)), LPIN3 (rs6072343, p=7.16×10(-12)) and IFNGR2 (rs9808753, p=4.40×10(-10)). Cis expression quantitative locus effects were observed in silico for rs6435203 on CD28 and for rs9808753 on several immunologically relevant genes in the IFNGR2 locus.CONCLUSIONS: This study adds seven loci to the list of genuine MS genetic risk factors and further extends the list of established loci shared across autoimmune diseases.

U2 - 10.1136/jmedgenet-2015-103442

DO - 10.1136/jmedgenet-2015-103442

M3 - SCORING: Journal article

C2 - 26475045

VL - 52

SP - 848

EP - 855

JO - J MED GENET

JF - J MED GENET

SN - 0022-2593

IS - 12

ER -