Streptococcal infections are suggested as a risk factor for narcolepsy. This hypothesis is supported by the presence of anti-streptolysin antibodies in 65% of patients with narcolepsy. These infections are associated with the activation of general immunity and concomitant increased permeability of blood-brain barrier after T cell activation during inflammation and fever. It has also been shown ...

BACKGROUND SNP rs5770917 located between CPT1B and CHKB, and HLA-DRB1*1501-DQB1*0602 haplotype were previously identified as susceptibility loci for narcolepsy with cataplexy. This study was conducted in order to investigate whether these genetic markers are associated with Japanese CNS hypersomnias (essential hypersomnia: EHS) other than narcolepsy with cataplexy. PRINCIPAL FINDINGS EHS was ...

OBJECTIVE The aim of this study was to determine the frequency of HLA DR-DQ haplotypes in children with type 1 diabetes mellitus (T1DM) in the Southeast Region of Turkey. METHODS Eighty children and adolescents with T1DM and eighty control subjects participated in the study. HLA-DR, DQ was typed using polymerase chain reaction and sequence-specific priming technique. RESULTS HLA DRB1*03 all...

Narcolepsy type 1 (NC1) is a neurologic sleep disorder caused by the loss of hypothalamic neurons that produce the sleep–wake regulating neuropeptides, the hypocretins (orexins). The pathogenesis is believed to be mainly autoimmune, based on the observation of a 95% to 100% association with the HLA-DQB1*06:02 allele, and on the recent strong indication of antigen presentation to T cells as cent...

This is the first genetic anthropology study on Arabs in MENA (Middle East and North Africa) region. The present meta-analysis included 100 populations from 36 Arab and non-Arab communities, comprising 16,006 individuals, and evaluates the genetic profile of Arabs using HLA class I (A, B) and class II (DRB1, DQB1) genes. A total of 56 Arab populations comprising 10,283 individuals were selected...

Hypersensitivity reactions are the most frequent dose-limiting adverse reactions to Escherichia coli-derived asparaginase in pediatric acute lymphoblastic leukemia (ALL) patients. The aim of the present study was to identify associations between sequence-based Human Leukocyte Antigen Class II region alleles and asparaginase hypersensitivity in a Hungarian ALL population. Four-digit typing of HL...

OBJECTIVE We report here the human leukocyte antigen (HLA) allelic variety and haplotype composition in a cohort of the Taiwanese Chinese population and their patterns of linkage disequilibria on HLA-B: HLA-C alleles and HLA-DRB1: HLA-DQB1 alleles at a high-resolution level. MATERIALS AND METHODS Peripheral whole blood from 11,423 Taiwanese Chinese unrelated individuals was collected in acid ...

HLA-DQA1*0102-DQB1*0602 is associated with protection against type 1 diabetes (T1D). A similar allele, HLA-DQA1*0102-DQB1*0604, contributes to T1D susceptibility in certain populations but differs only at seven amino acids from HLA-DQA1*0102-DQB1*0602. Five of these polymorphisms are found within the peptide-binding groove, suggesting that differences in peptide binding contribute to the mechan...

OBJECTIVE Ketosis-prone diabetes (KPD) comprises four subgroups based on the presence or absence of beta-cell autoantibodies (A+ or A-) and beta-cell functional reserve (beta+ or beta-). Genetic factors could contribute to their distinctive phenotypes. Our aim was to specify the role of HLA class II alleles associated with susceptibility or resistance to autoimmune type 1 diabetes in determinin...

Aims/hypothesis: WHO considers an etiological classification of diabetes to be essential. To evaluate whether HLA-DQB1 genotypes facilitates the classification of diabetes as compared with islet antibodies, young adult diabetic patients were investigated. Methods: Blood samples were available at diagnosis from 1872 (90%) of the 2077 young adult patients (15-34 years old) during a five-year peri...