A non-synonymous SNP within membrane metalloendopeptidase-like 1 (MMEL1) is associated with multiple sclerosis

被引：23

作者：

Ban, M. ^{[1
]}

McCauley, J. L. ^{[2
]}

Zuvich, R. ^{[3
]}

Baker, A. ^{[1
]}

Bergamaschi, L. ^{[4
,5
]}

Cox, M. ^{[6
]}

Kemppinen, A. ^{[1
]}

D'Alfonso, S. ^{[4
,5
]}

Guerini, F. R. ^{[7
]}

Lechner-Scott, J. ^{[6
]}

Dudbridge, F. ^{[9
]}

Wason, J. ^{[9
]}

Robertson, N. P. ^{[8
]}

De Jager, P. L. ^{[10
,11
]}

Hafler, D. A. ^{[12
]}

Barcellos, L. F. ^{[13
]}

Ivinson, A. J. ^{[14
]}

Sexton, D. ^{[3
]}

Oksenberg, J. R. ^{[15
]}

Hauser, S. L. ^{[15
]}

Pericak-Vance, M. A. ^{[2
]}

Haines, J. ^{[3
]}

Compston, A. ^{[1
]}

Sawcer, S. ^{[1
]}

机构：

[1] Univ Cambridge, Addenbrookes Hosp, Dept Clin Neurosci, Cambridge CB2 2QQ, England

[2] Univ Miami, Sch Med, Miami Inst Human Genom, Miami, FL USA

[3] Vanderbilt Univ, Med Ctr, Ctr Human Genet Res, Nashville, TN USA

[4] Univ Piemonte Orientale, Dept Med Sci, Novara, Italy

[5] Univ Piemonte Orientale, Interdisciplinary Res Ctr Autoimmune Dis, Novara, Italy

[6] Univ Newcastle, John Hunter Hosp, Newcastle, NSW 2308, Australia

[7] Don C Gnocchi Fdn IRCCS, Lab Mol Med & Biotechnol, Milan, Italy

[8] Univ Wales Hosp, Dept Neurol, Cardiff CF4 4XW, S Glam, Wales

[9] MRC Biostat Unit, Cambridge, England

[10] Harvard Univ, Brigham & Womens Hosp, Sch Med, Program Translat NeuroPsychiat Genom,Ctr Neurol D, Boston, MA 02115 USA

[11] Broad Inst, Cambridge, MA USA

[12] Yale Univ, Sch Med, Dept Neurol, New Haven, CT USA

[13] Univ Calif Berkeley, Sch Publ Hlth, Div Epidemiol, Berkeley, CA 94720 USA

[14] Harvard Univ, Sch Med, Harvard NeuroDiscovery Ctr, Boston, MA USA

[15] Univ Calif San Francisco, Dept Neurol, San Francisco, CA 94143 USA

来源：

GENES AND IMMUNITY | 2010年 / 11卷 / 08期

基金：

英国惠康基金; 英国医学研究理事会;

关键词：

multiple sclerosis; MMEL1; genetics; GENOME-WIDE ASSOCIATION; SUSCEPTIBILITY LOCI; DIAGNOSTIC-CRITERIA; NEURODEGENERATION; GUIDELINES; VARIANTS; LINKAGE; PROTEIN; HUMANS; GENES;

D O I：

10.1038/gene.2010.36

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Several single-nucleotide polymorphism (SNP) genome-wide association studies (GWASs) have been completed in multiple sclerosis (MS). Follow-up studies of the variants with the most promising rankings, especially when supplemented by informed candidate gene selection, have proven to be extremely successful. In this study we report the results of a multi-stage replication analysis of the putatively associated SNPs identified in the Wellcome Trust Case Control Consortium non-synonymous SNP (nsSNP) screen. In total, the replication sample consisted of 3444 patients and 2595 controls. A combined analysis of the nsSNP screen and replication data provides evidence implicating a novel additional locus, rs3748816 in membrane metalloendopeptidase-like 1 (MMEL1; odds ratio = 1.16, P = 3.54 x 10(-6)) in MS susceptibility. Genes and Immunity (2010) 11, 660-664; doi: 10.1038/gene.2010.36; published online 24 June 2010

引用

页码：660 / 664

页数：5

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