Τίτλος:
HLA-DRB1 differences in allelic distribution between familial and sporadic multiple sclerosis in a Hellenic cohort
Γλώσσες Τεκμηρίου:
Αγγλικά
Περίληψη:
Objective: Familial Multiple Sclerosis (fMS) is reported to have distinct clinical and imaging characteristics in comparison to the sporadic disease (sMS). Nevertheless, the genetic/immunogenetic profile of fMS has never been investigated in depth, so far. In this study, we examined differences of HLA-DRB1 allelic frequencies between 57 fMS and 141 sMS Hellenic patients, with reference to 246 previously genotyped healthy controls (HCs). Patients and Methods: All patients underwent medical interview and DRB1 genotyping, using a low-resolution SSOP technique. Statistical analyses were performed using SPSS v.21.0 software, with significance set at 0.05, and p value corrected according to the Benjamini–Yekutieli method. Results: 29 fMS cases had at least one 1st degree relative affected (fMS 1st), while the rest had at least one 2nd or 3rd degree relative affected (fMS 2nd/3rd). Parent-of-origin effects were observed, with the prevalence of maternal inheritance. Frequency of DRB1*15 was significantly increased in fMS and sMS, in comparison to HCs (p = 0.002 and <0.001, respectively). After fMS stratification, this result was mainly attributed to the fMS 2nd/3rd subgroup. DRB1*11 frequency was significantly decreased only in sMS (p < 0.001) with fMS approximating HCs’ frequency, especially for the fMS 1st subgroup. Heterozygosity was favored over homozygosity in all groups. Conclusion: We propose possible HLA-DRB1 allelic distribution differences between fMS and sMS, which become more apparent as proximity of affected relative/-es in fMS increases, supporting a rather degraded role of DRB1 alleles in fMS HLA/immunogenetics and indicating the concomitant implication of other HLA and non-HLA polymorphisms. © 2019, © 2019 Informa UK Limited, trading as Taylor & Francis Group.
Συγγραφείς:
Katsavos, S.
Artemiadis, A.
Gontika, M.
Skarlis, C.
Markoglou, N.
Davaki, P.
Stamboulis, E.
Kilindireas, K.
Stefanis, L.
Anagnostouli, M.
Περιοδικό:
Journal of Postgraduate Medicine
Εκδότης:
Taylor and Francis Inc.
Λέξεις-κλειδιά:
HLA DRB1 antigen; HLA DRB1 antigen, adult; allele; Article; case control study; cohort analysis; controlled study; disease duration; DNA extraction; DNA polymorphism; ethnicity; familial disease; female; gene frequency; gene locus; genetic analysis; genetic risk; genotype; geographic distribution; Greek (citizen); heterozygosity; heterozygote; homozygosity; homozygote; human; immunogenetics; inheritance; major clinical study; male; multiple sclerosis; oligonucleotide probe; phenotype; polymerase chain reaction; sequence specific oligonucleotide probe; family; gene frequency; genetic predisposition; genetics; Greece; middle aged; multiple sclerosis; young adult, Adult; Family; Female; Gene Frequency; Genetic Predisposition to Disease; Genotype; Greece; HLA-DRB1 Chains; Humans; Male; Middle Aged; Multiple Sclerosis; Phenotype; Young Adult
DOI:
10.1080/00325481.2019.1655382
