Literature DB >> 20508602

The autoimmune disease-associated KIF5A, CD226 and SH2B3 gene variants confer susceptibility for multiple sclerosis.

A Alcina1, K Vandenbroeck, D Otaegui, A Saiz, J R Gonzalez, O Fernandez, M L Cavanillas, M C Cénit, R Arroyo, I Alloza, M García-Barcina, A Antigüedad, L Leyva, G Izquierdo, M Lucas, M Fedetz, M J Pinto-Medel, J Olascoaga, Y Blanco, M Comabella, X Montalban, E Urcelay, F Matesanz.   

Abstract

Genome-wide association studies (GWAS) have revealed that different diseases share susceptibility variants. Twelve single-nucleotide polymorphisms (SNPs) previously associated with different immune-mediated diseases in GWAS were genotyped in a Caucasian Spanish population of 2864 multiple sclerosis (MS) patients and 2930 controls. Three SNPs were found to be associated with MS: rs1678542 in KIF5A (P=0.001, odds ratio (OR)=1.13, 95% confidence interval (CI)=1.05-1.23); rs3184504 in SH2B3 (P=0.00001, OR=1.19, 95% CI=1.10-1.27) and rs763361 in CD226 (P=0.00007, OR=1.16, 95%CI=1.08-1.25). These variants have previously been associated with rheumatoid arthritis and type 1 diabetes. The SH2B3 polymorphism has additionally been associated with systemic lupus erythematosus. Our results, in addition to validating some of these loci as risk factors for MS, are consistent with shared genetic mechanisms underlying different immune-mediated diseases. These data may help to shape the contribution of each pathway to different disorders.

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Year:  2010        PMID: 20508602     DOI: 10.1038/gene.2010.30

Source DB:  PubMed          Journal:  Genes Immun        ISSN: 1466-4879            Impact factor:   2.676


  36 in total

1.  A genome- and phenome-wide association study to identify genetic variants influencing platelet count and volume and their pleiotropic effects.

Authors:  Khader Shameer; Joshua C Denny; Keyue Ding; Hayan Jouni; David R Crosslin; Mariza de Andrade; Christopher G Chute; Peggy Peissig; Jennifer A Pacheco; Rongling Li; Lisa Bastarache; Abel N Kho; Marylyn D Ritchie; Daniel R Masys; Rex L Chisholm; Eric B Larson; Catherine A McCarty; Dan M Roden; Gail P Jarvik; Iftikhar J Kullo
Journal:  Hum Genet       Date:  2013-09-12       Impact factor: 4.132

Review 2.  Over 1000 genetic loci influencing blood pressure with multiple systems and tissues implicated.

Authors:  Claudia P Cabrera; Fu Liang Ng; Hannah L Nicholls; Ajay Gupta; Michael R Barnes; Patricia B Munroe; Mark J Caulfield
Journal:  Hum Mol Genet       Date:  2019-11-21       Impact factor: 6.150

3.  Reply to Liu et al.: Haplotype matters: CD226 polymorphism as a potential trigger for impaired immune regulation in multiple sclerosis.

Authors:  Catharina C Gross; Gerd Meyer Zu Hörste; Andreas Schulte-Mecklenbeck; Luisa Klotz; Sven G Meuth; Heinz Wiendl
Journal:  Proc Natl Acad Sci U S A       Date:  2017-01-30       Impact factor: 11.205

4.  Genome-wide association study identified the human leukocyte antigen region as a novel locus for plasma beta-2 microglobulin.

Authors:  Adrienne Tin; Brad C Astor; Eric Boerwinkle; Ron C Hoogeveen; Josef Coresh; Wen Hong Linda Kao
Journal:  Hum Genet       Date:  2013-02-16       Impact factor: 4.132

5.  Impaired NK-mediated regulation of T-cell activity in multiple sclerosis is reconstituted by IL-2 receptor modulation.

Authors:  Catharina C Gross; Andreas Schulte-Mecklenbeck; Anna Rünzi; Tanja Kuhlmann; Anita Posevitz-Fejfár; Nicholas Schwab; Tilman Schneider-Hohendorf; Sebastian Herich; Kathrin Held; Matea Konjević; Marvin Hartwig; Klaus Dornmair; Reinhard Hohlfeld; Tjalf Ziemssen; Luisa Klotz; Sven G Meuth; Heinz Wiendl
Journal:  Proc Natl Acad Sci U S A       Date:  2016-05-09       Impact factor: 11.205

Review 6.  The role of LNK/SH2B3 genetic alterations in myeloproliferative neoplasms and other hematological disorders.

Authors:  N Maslah; B Cassinat; E Verger; J-J Kiladjian; L Velazquez
Journal:  Leukemia       Date:  2017-05-09       Impact factor: 11.528

Review 7.  Single nucleotide polymorphisms in multiple sclerosis: disease susceptibility and treatment response biomarkers.

Authors:  Vera Pravica; Dusan Popadic; Emina Savic; Milos Markovic; Jelena Drulovic; Marija Mostarica-Stojkovic
Journal:  Immunol Res       Date:  2012-04       Impact factor: 2.829

8.  Genetic loss of SH2B3 in acute lymphoblastic leukemia.

Authors:  Arianne Perez-Garcia; Alberto Ambesi-Impiombato; Michael Hadler; Isaura Rigo; Charles A LeDuc; Kara Kelly; Chaim Jalas; Elisabeth Paietta; Janis Racevskis; Jacob M Rowe; Martin S Tallman; Maddalena Paganin; Giuseppe Basso; Wei Tong; Wendy K Chung; Adolfo A Ferrando
Journal:  Blood       Date:  2013-08-01       Impact factor: 22.113

9.  Defective negative regulation of Toll-like receptor signaling leads to excessive TNF-α in myeloproliferative neoplasm.

Authors:  Hew Yeng Lai; Stefan A Brooks; Brianna M Craver; Sarah J Morse; Thanh Kim Nguyen; Nahideh Haghighi; Michael R Garbati; Angela G Fleischman
Journal:  Blood Adv       Date:  2019-01-22

Review 10.  12q24 locus association with type 1 diabetes: SH2B3 or ATXN2?

Authors:  Georg Auburger; Suzana Gispert; Suna Lahut; Ozgür Omür; Ewa Damrath; Melanie Heck; Nazlı Başak
Journal:  World J Diabetes       Date:  2014-06-15
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