Meta-analysis of genome scans and replication identify CD6, IRF8 and TNFRSF1A as new multiple sclerosis susceptibility loci Export

@article{citeulike:4904129, abstract = {We report the results of a meta-analysis of genome-wide association scans for multiple sclerosis (MS) susceptibility that includes 2,624 subjects with MS and 7,220 control subjects. Replication in an independent set of 2,215 subjects with MS and 2,116 control subjects validates new MS susceptibility loci at TNFRSF1A (combined P = 1.59 10-11), IRF8 (P = 3.73 10-9) and CD6 (P = 3.79 10-9). TNFRSF1A harbors two independent susceptibility alleles: rs1800693 is a common variant with modest effect (odds ratio = 1.2), whereas rs4149584 is a nonsynonymous coding polymorphism of low frequency but with stronger effect (allele frequency = 0.02; odds ratio = 1.6). We also report that the susceptibility allele near IRF8, which encodes a transcription factor known to function in type I interferon signaling, is associated with higher mRNA expression of interferon-response pathway genes in subjects with MS.}, author = {De Jager, Philip L. and Jia, Xiaoming and Wang, Joanne and de Bakker, Paul I. W. and Ottoboni, Linda and Aggarwal, Neelum T. and Piccio, Laura and Raychaudhuri, Soumya and Tran, Dong and Aubin, Cristin and Briskin, Rebeccah and Romano, Susan and Baranzini, Sergio E. and McCauley, Jacob L. and Pericak-Vance, Margaret A. and Haines, Jonathan L. and Gibson, Rachel A. and Naeglin, Yvonne and Uitdehaag, Bernard and Matthews, Paul M. and Kappos, Ludwig and Polman, Chris and McArdle, Wendy L. and Strachan, David P. and Evans, Denis and Cross, Anne H. and Daly, Mark J. and Compston, Alastair and Sawcer, Stephen J. and Weiner, Howard L. and Hauser, Stephen L. and Hafler, David A. and Oksenberg, Jorge R.}, citeulike-article-id = {4904129}, citeulike-linkout-0 = {http://dx.doi.org/10.1038/ng.401}, citeulike-linkout-1 = {http://dx.doi.org/10.1038/ng.401}, citeulike-linkout-2 = {http://view.ncbi.nlm.nih.gov/pubmed/19525953}, citeulike-linkout-3 = {http://www.hubmed.org/display.cgi?uids=19525953}, day = {14}, doi = {10.1038/ng.401}, issn = {1061-4036}, journal = {Nature Genetics}, keywords = {cd6, gwas}, month = {June}, number = {7}, pages = {776--782}, posted-at = {2009-09-17 15:10:49}, priority = {2}, publisher = {Nature Publishing Group}, title = {Meta-analysis of genome scans and replication identify CD6, IRF8 and TNFRSF1A as new multiple sclerosis susceptibility loci}, url = {http://dx.doi.org/10.1038/ng.401}, volume = {41}, year = {2009} }

TY - JOUR ID - citeulike:4904129 L3 - citeulike-article-id:4904129 N2 - We report the results of a meta-analysis of genome-wide association scans for multiple sclerosis (MS) susceptibility that includes 2,624 subjects with MS and 7,220 control subjects. Replication in an independent set of 2,215 subjects with MS and 2,116 control subjects validates new MS susceptibility loci at TNFRSF1A (combined P = 1.59 10-11), IRF8 (P = 3.73 10-9) and CD6 (P = 3.79 10-9). TNFRSF1A harbors two independent susceptibility alleles: rs1800693 is a common variant with modest effect (odds ratio = 1.2), whereas rs4149584 is a nonsynonymous coding polymorphism of low frequency but with stronger effect (allele frequency = 0.02; odds ratio = 1.6). We also report that the susceptibility allele near IRF8, which encodes a transcription factor known to function in type I interferon signaling, is associated with higher mRNA expression of interferon-response pathway genes in subjects with MS. IS - 7 JF - Nature Genetics SN - 1061-4036 EP - 782 TI - Meta-analysis of genome scans and replication identify CD6, IRF8 and TNFRSF1A as new multiple sclerosis susceptibility loci PB - Nature Publishing Group VL - 41 SP - 776 KW - cd6 KW - gwas AU - De Jager, Philip AU - Jia, Xiaoming AU - Wang, Joanne AU - de Bakker, Paul AU - Ottoboni, Linda AU - Aggarwal, Neelum AU - Piccio, Laura AU - Raychaudhuri, Soumya AU - Tran, Dong AU - Aubin, Cristin AU - Briskin, Rebeccah AU - Romano, Susan AU - Baranzini, Sergio AU - McCauley, Jacob AU - Pericak-Vance, Margaret AU - Haines, Jonathan AU - Gibson, Rachel AU - Naeglin, Yvonne AU - Uitdehaag, Bernard AU - Matthews, Paul AU - Kappos, Ludwig AU - Polman, Chris AU - McArdle, Wendy AU - Strachan, David AU - Evans, Denis AU - Cross, Anne AU - Daly, Mark AU - Compston, Alastair AU - Sawcer, Stephen AU - Weiner, Howard AU - Hauser, Stephen AU - Hafler, David AU - Oksenberg, Jorge PY - 2009/06/14/ UR - http://dx.doi.org/10.1038/ng.401 ER -