Georgios M Hadjigeorgiou1, Persia-Maria Kountra2, Georgios Koutsis3, Vana Tsimourtou2, Vasileios Siokas2, Maria Dardioti2, Dimitrios Rikos2, Chrysoula Marogianni2, Athina-Maria Aloizou2, Georgia Karadima3, Styliani Ralli2, Nikolaos Grigoriadis4, Dimitrios Bogdanos5, Marios Panas3, Efthimios Dardiotis2. 1. Department of Neurology, Medical School, University of Cyprus, Nicosia, Cyprus. hadjigeorgiou.georgios@ucy.ac.cy. 2. Department of Neurology, Laboratory of Neurogenetics, University Hospital of Larissa, University of Thessaly, Larissa, Greece. 3. Neurogenetics Unit, 1st Department of Neurology, Eginition Hospital, University of Athens, Medical School, Athens, Greece. 4. Laboratory of Experimental Neurology and Neuroimmunology, B' Department of Neurology, AHEPA University Hospital, Aristotle University of Thessaloniki, Thessaloniki, Greece. 5. Cellular Immunotherapy & Molecular Immunodiagnostics, Biomedical Section, Centre for Research and Technology-Hellas (CERTH), Institute for Research and Technology-Thessaly (IRETETH), Larissa, Greece.
Abstract
OBJECTIVES: To validate in an ethnically homogeneous Greek multiple sclerosis (MS) cohort, genetic risk factors for the disease, identified through a number of previous multi-ethnic genome-wide association studies (GWAS). METHODS: A total of 1228 MS cases and 1014 controls were recruited in the study, from 3 MS centers in Greece. We genotyped 35 susceptibility SNPs that emerged from previous GWAS or meta-analyses of GWAS. Allele and genotype single locus regression analysis, adjusted for gender and site, was performed. Permutation testing was applied to all analyses. RESULTS: Six polymorphisms reached statistical significance (permutation p value < 0.05). In particular, rs2760524 of LOC105371664, near RGS1 (permutation p value 0.001), rs3129889 of HLA-DRA, near HLA-DRB1 (permutation p value < 1.00e-04), rs1738074 of TAGAP (permutation p value 0.007), rs703842 of METTL1/CYP27B1 (permutation p value 0.008), rs9596270 of DLEU1 (permutation p value < 1.00e-04), and rs17445836 of LincRNA, near IRF8 (permutation p value 0.001) were identified as susceptibility risk factors in our group. CONCLUSION: The current study replicated a number of GWAS susceptibility SNPs, which implies that some similarities between the examined Greek population and the MS genetic architecture of the GWAS populations do exist.
OBJECTIVES: To validate in an ethnically homogeneous Greek multiple sclerosis (MS) cohort, genetic risk factors for the disease, identified through a number of previous multi-ethnic genome-wide association studies (GWAS). METHODS: A total of 1228 MS cases and 1014 controls were recruited in the study, from 3 MS centers in Greece. We genotyped 35 susceptibility SNPs that emerged from previous GWAS or meta-analyses of GWAS. Allele and genotype single locus regression analysis, adjusted for gender and site, was performed. Permutation testing was applied to all analyses. RESULTS: Six polymorphisms reached statistical significance (permutation p value < 0.05). In particular, rs2760524 of LOC105371664, near RGS1 (permutation p value 0.001), rs3129889 of HLA-DRA, near HLA-DRB1 (permutation p value < 1.00e-04), rs1738074 of TAGAP (permutation p value 0.007), rs703842 of METTL1/CYP27B1 (permutation p value 0.008), rs9596270 of DLEU1 (permutation p value < 1.00e-04), and rs17445836 of LincRNA, near IRF8 (permutation p value 0.001) were identified as susceptibility risk factors in our group. CONCLUSION: The current study replicated a number of GWAS susceptibility SNPs, which implies that some similarities between the examined Greek population and the MS genetic architecture of the GWAS populations do exist.
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