Τίτλος:
Replication study of GWAS risk loci in Greek multiple sclerosis patients
Γλώσσες Τεκμηρίου:
Αγγλικά
Περίληψη:
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.
Συγγραφείς:
Hadjigeorgiou, G.M.
Kountra, P.-M.
Koutsis, G.
Tsimourtou, V.
Siokas, V.
Dardioti, M.
Rikos, D.
Marogianni, C.
Aloizou, A.-M.
Karadima, G.
Ralli, S.
Grigoriadis, N.
Bogdanos, D.
Panas, M.
Dardiotis, E.
Περιοδικό:
Neurological Sciences
Εκδότης:
Springer-Verlag Italia s.r.l.
Λέξεις-κλειδιά:
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
DOI:
10.1007/s10072-018-3617-6
