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A non-synonymous SNP within membrane metalloendopeptidase-like 1 (MMEL1) is associated with multiple sclerosis
Several single nucleotide polymorphism (SNP) genome-wide association studies (GWAS) have been completed in multiple sclerosis. 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...
| Autores principales: | , , , , , , , , , , , , , , , , , , , , , , , |
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| Formato: | Texto |
| Lenguaje: | English |
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2010
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2946966/ https://www.ncbi.nlm.nih.gov/pubmed/20574445 http://dx.doi.org/10.1038/gene.2010.36 |
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| author | Ban, Maria McCauley, Jacob L. Zuvich, Rebecca Baker, Amie Bergamaschi, Laura Cox, Mathew Kemppinen, Anu D’Alfonso, Sandra Guerini, Franca R. Lechner-Scott, Jeannette Dudbridge, Frank Wason, James Robertson, Neil P. De Jager, Philip L. Hafler, David A. Barcellos, Lisa F. Ivinson, Adrian J. Sexton, David Oksenberg, Jorge R. Hauser, Stephen L. Pericak-Vance, Margaret A. Haines, Jonathan Compston, Alastair Sawcer, Stephen |
| author_facet | Ban, Maria McCauley, Jacob L. Zuvich, Rebecca Baker, Amie Bergamaschi, Laura Cox, Mathew Kemppinen, Anu D’Alfonso, Sandra Guerini, Franca R. Lechner-Scott, Jeannette Dudbridge, Frank Wason, James Robertson, Neil P. De Jager, Philip L. Hafler, David A. Barcellos, Lisa F. Ivinson, Adrian J. Sexton, David Oksenberg, Jorge R. Hauser, Stephen L. Pericak-Vance, Margaret A. Haines, Jonathan Compston, Alastair Sawcer, Stephen |
| author_sort | Ban, Maria |
| collection | PubMed |
| description | Several single nucleotide polymorphism (SNP) genome-wide association studies (GWAS) have been completed in multiple sclerosis. 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. We report here the results of a multi-stage replication analysis of the putatively associated SNPs identified in the Wellcome Trust Case-Control Consortium non-synonymous SNP 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 MMEL1 (OR=1.16, p=3.54×10(−6)) in multiple sclerosis susceptibility. |
| format | Text |
| id | pubmed-2946966 |
| institution | National Center for Biotechnology Information |
| language | English |
| publishDate | 2010 |
| record_format | MEDLINE/PubMed |
| spelling | pubmed-29469662011-06-01 A non-synonymous SNP within membrane metalloendopeptidase-like 1 (MMEL1) is associated with multiple sclerosis Ban, Maria McCauley, Jacob L. Zuvich, Rebecca Baker, Amie Bergamaschi, Laura Cox, Mathew Kemppinen, Anu D’Alfonso, Sandra Guerini, Franca R. Lechner-Scott, Jeannette Dudbridge, Frank Wason, James Robertson, Neil P. De Jager, Philip L. Hafler, David A. Barcellos, Lisa F. Ivinson, Adrian J. Sexton, David Oksenberg, Jorge R. Hauser, Stephen L. Pericak-Vance, Margaret A. Haines, Jonathan Compston, Alastair Sawcer, Stephen Genes Immun Article Several single nucleotide polymorphism (SNP) genome-wide association studies (GWAS) have been completed in multiple sclerosis. 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. We report here the results of a multi-stage replication analysis of the putatively associated SNPs identified in the Wellcome Trust Case-Control Consortium non-synonymous SNP 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 MMEL1 (OR=1.16, p=3.54×10(−6)) in multiple sclerosis susceptibility. 2010-06-24 2010-12 /pmc/articles/PMC2946966/ /pubmed/20574445 http://dx.doi.org/10.1038/gene.2010.36 Text en Users may view, print, copy, download and text and data- mine the content in such documents, for the purposes of academic research, subject always to the full Conditions of use: http://www.nature.com/authors/editorial_policies/license.html#terms |
| spellingShingle | Article Ban, Maria McCauley, Jacob L. Zuvich, Rebecca Baker, Amie Bergamaschi, Laura Cox, Mathew Kemppinen, Anu D’Alfonso, Sandra Guerini, Franca R. Lechner-Scott, Jeannette Dudbridge, Frank Wason, James Robertson, Neil P. De Jager, Philip L. Hafler, David A. Barcellos, Lisa F. Ivinson, Adrian J. Sexton, David Oksenberg, Jorge R. Hauser, Stephen L. Pericak-Vance, Margaret A. Haines, Jonathan Compston, Alastair Sawcer, Stephen A non-synonymous SNP within membrane metalloendopeptidase-like 1 (MMEL1) is associated with multiple sclerosis |
| title | A non-synonymous SNP within membrane metalloendopeptidase-like 1 (MMEL1) is associated with multiple sclerosis |
| title_full | A non-synonymous SNP within membrane metalloendopeptidase-like 1 (MMEL1) is associated with multiple sclerosis |
| title_fullStr | A non-synonymous SNP within membrane metalloendopeptidase-like 1 (MMEL1) is associated with multiple sclerosis |
| title_full_unstemmed | A non-synonymous SNP within membrane metalloendopeptidase-like 1 (MMEL1) is associated with multiple sclerosis |
| title_short | A non-synonymous SNP within membrane metalloendopeptidase-like 1 (MMEL1) is associated with multiple sclerosis |
| title_sort | non-synonymous snp within membrane metalloendopeptidase-like 1 (mmel1) is associated with multiple sclerosis |
| topic | Article |
| url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2946966/ https://www.ncbi.nlm.nih.gov/pubmed/20574445 http://dx.doi.org/10.1038/gene.2010.36 |
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