TY - JOUR
TI - Replication study of GWAS risk loci in Greek multiple sclerosis patients
AU - Hadjigeorgiou, G.M.
AU - Kountra, P.-M.
AU - Koutsis, G.
AU - Tsimourtou, V.
AU - Siokas, V.
AU - Dardioti, M.
AU - Rikos, D.
AU - Marogianni, C.
AU - Aloizou, A.-M.
AU - Karadima, G.
AU - Ralli, S.
AU - Grigoriadis, N.
AU - Bogdanos, D.
AU - Panas, M.
AU - Dardiotis, E.
JO - Neurological Sciences
PY - 2019
VL - 40
TODO - 2
SP - 253-260
PB - Springer-Verlag Italia s.r.l.
SN - 1590-1874, 1590-3478
TODO - 10.1007/s10072-018-3617-6
TODO - cytochrome P450 family 27;  cytochrome p450 family 27b1;  deleted in lymphocytic leukemia 1 protein;  HLA DR antigen;  HLA DRB1 antigen;  interferon consensus sequence binding protein;  long untranslated RNA;  methyltransferase like protein 1;  protein;  unclassified drug, adult;  aged;  allele;  Article;  cohort analysis;  controlled study;  ethnic group;  female;  gender;  gene locus;  genetic risk;  genetic screening;  genetic susceptibility;  genome-wide association study;  genotype;  Greece;  human;  major clinical study;  male;  meta analysis;  multicenter study;  multiple sclerosis;  replication study;  retrospective study;  single nucleotide polymorphism;  Caucasian;  clinical trial;  ethnology;  genetic predisposition;  genetics;  genome-wide association study;  meta analysis (topic);  middle aged;  multiple sclerosis;  single nucleotide polymorphism;  young adult, Adult;  Aged;  Cohort Studies;  European Continental Ancestry Group;  Female;  Genetic Predisposition to Disease;  Genome-Wide Association Study;  Greece;  Humans;  Male;  Meta-Analysis as Topic;  Middle Aged;  Multiple Sclerosis;  Polymorphism, Single Nucleotide;  Young Adult
TODO - 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. © 2018, Springer-Verlag Italia S.r.l., part of Springer Nature.
ER -