@article{34748219db584a65a7926967e407151f,
title = "A non-synonymous SNP within membrane metalloendopeptidase-like 1 (MMEL1) is associated with multiple sclerosis",
abstract = "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 ratio1=16, P=3.54 × 10-6) in MS susceptibility.",
keywords = "MMEL1, genetics, multiple sclerosis",
author = "M. Ban and McCauley, {J. L.} and R. Zuvich and A. Baker and L. Bergamaschi and M. Cox and A. Kemppinen and S. D'Alfonso and Guerini, {F. R.} and J. Lechner-Scott and F. Dudbridge and J. Wason and Robertson, {N. P.} and {De Jager}, {P. L.} and Hafler, {D. A.} and Barcellos, {L. F.} and Ivinson, {A. J.} and D. Sexton and Oksenberg, {J. R.} and Hauser, {S. L.} and Pericak-Vance, {M. A.} and J. Haines and A. Compston and S. Sawcer",
note = "Funding Information: We thank the many multiple sclerosis patients and healthy individuals who participated in this study and the International Multiple Sclerosis Genetics Consortium (IMSGC, https://www.imsgc.org/) for providing the network through which we were able to collaborate. This work was supported by the Medical Research Council (G0700061) and MRC programme grant (U.1052.00.012.00001.01), the National Institute of Health (R01 NS049477 and NS032830) and the Cambridge NIHR Biomedical Research Centre. This study makes use of data generated by the Wellcome Trust Case Control Consortium. A full list of the investigators who contributed to the generation of the data is available from www.wtccc.org.uk. Funding for the project was provided by the Wellcome Trust under award 076113. We acknowledge the use of DNA from the British 1958 Birth Cohort collection, funded by the Medical Research Council Grant G0000934 and the Wellcome Trust Grant 068545/ Z/02. JLM was supported by a grant from the National Multiple Sclerosis Society (RG4201-A-1). PLD is a Harry Weaver Neuroscience Scholar of the National MS Society. LB is supported by a PhD Lagrange Fellowship. SD is supported by the FISM grant (2008/R/11).",
year = "2010",
month = dec,
doi = "10.1038/gene.2010.36",
language = "English",
volume = "11",
pages = "660--664",
journal = "Genes and Immunity",
issn = "1466-4879",
publisher = "Springer Nature",
number = "8",
}