@article{3121899,
    title = "HLA-DRB1 differences in allelic distribution between familial and sporadic multiple sclerosis in a Hellenic cohort",
    author = "Katsavos, S. and Artemiadis, A. and Gontika, M. and Skarlis, C. and Markoglou, N. and Davaki, P. and Stamboulis, E. and Kilindireas, K. and Stefanis, L. and Anagnostouli, M.",
    journal = "Journal of Postgraduate Medicine",
    year = "2019",
    volume = "131",
    number = "7",
    pages = "490-495",
    publisher = "Taylor and Francis Inc.",
    issn = "0022-3859",
    doi = "10.1080/00325481.2019.1655382",
    keywords = "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",
    abstract = "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."
}