Literature DB >> 26497834

Successful Replication of GWAS Hits for Multiple Sclerosis in 10,000 Germans Using the Exome Array.

Theresa Dankowski1, Dorothea Buck2, Till F M Andlauer3, Gisela Antony4, Antonios Bayas5, Lukas Bechmann6,7, Achim Berthele2, Thomas Bettecken3, Andrew Chan8, Andre Franke9, Ralf Gold8, Christiane Graetz10, Jürgen Haas11, Michael Hecker12, Stefan Herms13,14,15,16, Carmen Infante-Duarte17, Karl-Heinz Jöckel18, Bernd C Kieseier19, Benjamin Knier2, Matthias Knop20, Tania Kümpfel21, Peter Lichtner22,23, Wolfgang Lieb24, Christina M Lill10,25, Volker Limmroth26, Ralf A Linker27, Verena Loleit2, Sven G Meuth28, Susanne Moebus18, Bertram Müller-Myhsok3, Sandra Nischwitz20, Markus M Nöthen13,14, Friedemann Paul17,29, Michael Pütz30, Tobias Ruck28, Anke Salmen8, Martin Stangel31, Jan-Patrick Stellmann32, Konstantin Strauch33,34, Klarissa H Stürner32, Björn Tackenberg30, Florian Then Bergh35, Hayrettin Tumani36, Melanie Waldenberger37,38, Frank Weber20,39, Heinz Wiendl28, Brigitte Wildemann11, Uwe K Zettl12, Ulf Ziemann40, Frauke Zipp10, Bernhard Hemmer2,41, Andreas Ziegler1,42,43.   

Abstract

Genome-wide association studies (GWAS) successfully identified various chromosomal regions to be associated with multiple sclerosis (MS). The primary aim of this study was to replicate reported associations from GWAS using an exome array in a large German study. German MS cases (n = 4,476) and German controls (n = 5,714) were genotyped using the Illumina HumanExome v1-Chip. Genotype calling was performed with the Illumina Genome Studio(TM) Genotyping Module, followed by zCall. Single-nucleotide polymorphisms (SNPs) in seven regions outside the human leukocyte antigen (HLA) region showed genome-wide significant associations with MS (P values < 5 × 10(-8) ). These associations have been reported previously. In addition, SNPs in three previously reported regions outside the HLA region yielded P values < 10(-5) . The effect of nine SNPs in the HLA region remained (P < 10(-5) ) after adjustment for other significant SNPs in the HLA region. All of these findings have been reported before or are driven by known risk loci. In summary, findings from previous GWAS for MS could be successfully replicated. We conclude that the regions identified in previous GWAS are also associated in the German population. This reassures the need for detailed investigations of the functional mechanisms underlying the replicated associations.
© 2015 WILEY PERIODICALS, INC.

Entities:  

Keywords:  ANKRD55 gene; HLA-DPB2 gene; Illumina exome array; MMEL1 gene; genome-wide association study; multiple sclerosis

Mesh:

Substances:

Year:  2015        PMID: 26497834     DOI: 10.1002/gepi.21933

Source DB:  PubMed          Journal:  Genet Epidemiol        ISSN: 0741-0395            Impact factor:   2.135


  5 in total

1.  Multiple sclerosis in families: risk factors beyond known genetic polymorphisms.

Authors:  Denis A Akkad; De-Hyung Lee; Kathrin Bruch; Aiden Haghikia; Jörg T Epplen; Sabine Hoffjan; Ralf A Linker
Journal:  Neurogenetics       Date:  2016-02-11       Impact factor: 2.660

2.  A survey of endogenous retrovirus (ERV) sequences in the vicinity of multiple sclerosis (MS)-associated single nucleotide polymorphisms (SNPs).

Authors:  Christine Brütting; Alexander Emmer; Malte Kornhuber; Martin S Staege
Journal:  Mol Biol Rep       Date:  2016-05-12       Impact factor: 2.316

3.  A nonsynonymous mutation in PLCG2 reduces the risk of Alzheimer's disease, dementia with Lewy bodies and frontotemporal dementia, and increases the likelihood of longevity.

Authors:  Sven J van der Lee; Olivia J Conway; Iris Jansen; Minerva M Carrasquillo; Luca Kleineidam; Erik van den Akker; Isabel Hernández; Kristel R van Eijk; Najada Stringa; Jason A Chen; Anna Zettergren; Till F M Andlauer; Monica Diez-Fairen; Javier Simon-Sanchez; Alberto Lleó; Henrik Zetterberg; Marianne Nygaard; Cornelis Blauwendraat; Jeanne E Savage; Jonas Mengel-From; Sonia Moreno-Grau; Michael Wagner; Juan Fortea; Michael J Keogh; Kaj Blennow; Ingmar Skoog; Manuel A Friese; Olga Pletnikova; Miren Zulaica; Carmen Lage; Itziar de Rojas; Steffi Riedel-Heller; Ignacio Illán-Gala; Wei Wei; Bernard Jeune; Adelina Orellana; Florian Then Bergh; Xue Wang; Marc Hulsman; Nina Beker; Niccolo Tesi; Christopher M Morris; Begoña Indakoetxea; Lyduine E Collij; Martin Scherer; Estrella Morenas-Rodríguez; James W Ironside; Bart N M van Berckel; Daniel Alcolea; Heinz Wiendl; Samantha L Strickland; Pau Pastor; Eloy Rodríguez Rodríguez; Bradley F Boeve; Ronald C Petersen; Tanis J Ferman; Jay A van Gerpen; Marcel J T Reinders; Ryan J Uitti; Lluís Tárraga; Wolfgang Maier; Oriol Dols-Icardo; Amit Kawalia; Maria Carolina Dalmasso; Mercè Boada; Uwe K Zettl; Natasja M van Schoor; Marian Beekman; Mariet Allen; Eliezer Masliah; Adolfo López de Munain; Alexander Pantelyat; Zbigniew K Wszolek; Owen A Ross; Dennis W Dickson; Neill R Graff-Radford; David Knopman; Rosa Rademakers; Afina W Lemstra; Yolande A L Pijnenburg; Philip Scheltens; Thomas Gasser; Patrick F Chinnery; Bernhard Hemmer; Martijn A Huisman; Juan Troncoso; Fermin Moreno; Ellen A Nohr; Thorkild I A Sørensen; Peter Heutink; Pascual Sánchez-Juan; Danielle Posthuma; Jordi Clarimón; Kaare Christensen; Nilüfer Ertekin-Taner; Sonja W Scholz; Alfredo Ramirez; Agustín Ruiz; Eline Slagboom; Wiesje M van der Flier; Henne Holstege
Journal:  Acta Neuropathol       Date:  2019-05-27       Impact factor: 17.088

4.  Sunlight exposure exerts immunomodulatory effects to reduce multiple sclerosis severity.

Authors:  Patrick Ostkamp; Anke Salmen; Béatrice Pignolet; Dennis Görlich; Till F M Andlauer; Andreas Schulte-Mecklenbeck; Gabriel Gonzalez-Escamilla; Florence Bucciarelli; Isabelle Gennero; Johanna Breuer; Gisela Antony; Tilman Schneider-Hohendorf; Nadine Mykicki; Antonios Bayas; Florian Then Bergh; Stefan Bittner; Hans-Peter Hartung; Manuel A Friese; Ralf A Linker; Felix Luessi; Klaus Lehmann-Horn; Mark Mühlau; Friedemann Paul; Martin Stangel; Björn Tackenberg; Hayrettin Tumani; Clemens Warnke; Frank Weber; Brigitte Wildemann; Uwe K Zettl; Ulf Ziemann; Bertram Müller-Myhsok; Tania Kümpfel; Luisa Klotz; Sven G Meuth; Frauke Zipp; Bernhard Hemmer; Reinhard Hohlfeld; David Brassat; Ralf Gold; Catharina C Gross; Carsten Lukas; Sergiu Groppa; Karin Loser; Heinz Wiendl; Nicholas Schwab
Journal:  Proc Natl Acad Sci U S A       Date:  2021-01-05       Impact factor: 11.205

5.  Low-Frequency and Rare-Coding Variation Contributes to Multiple Sclerosis Risk.

Authors: 
Journal:  Cell       Date:  2018-10-18       Impact factor: 41.582

  5 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.