title: Distribution of HLA-DQB1 in Czech Patients with Central Hypersomnias.
abstract: The aim of our study was to analyze the distribution of HLA-DQB1 in Czech patients with central hypersomnias and differences between diagnostic groups of narcolepsy type 1 (NT1), type 2 (NT2), idiopathic hypersomnia (IH) and no central hypersomnia subjects (no-CH). Statistical analysis of DQB1 genotyping was performed on the cohort of 716 patients (375 men, 341 women) with reported excessive daytime sleepiness. DQB1*06:02 allele was present in 94% of the NT1 patients. The decrease of DQB1*06:03 allele was also confirmed. No other DQB1*06 allele nor any other DQB1 allele group was differently distributed in the NT1. In the cohort of NT2 patients DQB1*06:02 allele was present in 43%. Allele group DQB*05 was detected with a significantly higher frequency in this diagnostic unit. Any differences in presence of DQB1*05 alleles in NT2 patients were not reported so far. The cohort of patients with IH did not show any difference in allele distribution of DQB1 alleles/allele groups comparing to healthy controls. DQB1*06:02 allele was significantly increased in the no hypersomnia group. No other DQB1 allele/allele group had any difference in distribution in patients comparing to healthy controls. The different distribution of DQB1*06:02 and other DQB1 alleles/allele groups was detected in analyzed diagnostic groups. These results indicate that DQB1 contributes to the genetic predisposition to NT1, NT2, IH and no-CH in different manners.
authors.affiliation: HLA Department, Institute of Hematology and Blood Transfusion, U Nemocnice 1, 128 20, Prague 2, Czech Republic. milena.vrana@uhkt.cz.
authors.forename: Milena
authors.identifier: http://orcid.org/0000-0002-6905-6227
authors.initials: M
authors.lastname: Vrana
authors.affiliation: HLA Department, Institute of Hematology and Blood Transfusion, U Nemocnice 1, 128 20, Prague 2, Czech Republic.
authors.forename: Vera
authors.initials: V
authors.lastname: Siffnerova
authors.affiliation: HLA Department, Institute of Hematology and Blood Transfusion, U Nemocnice 1, 128 20, Prague 2, Czech Republic.
authors.forename: Pavla
authors.initials: P
authors.lastname: Pecherkova
authors.affiliation: HLA Department, Institute of Hematology and Blood Transfusion, U Nemocnice 1, 128 20, Prague 2, Czech Republic.
authors.forename: Eva
authors.initials: E
authors.lastname: Ratajova
authors.affiliation: HLA Department, Institute of Hematology and Blood Transfusion, U Nemocnice 1, 128 20, Prague 2, Czech Republic.|Department of Neurology and Center for Clinical Neuroscience, First Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic.
authors.forename: Karel
authors.initials: K
authors.lastname: Sonka
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000483:Alleles; D016022:Case-Control Studies; D002648:Child; D015331:Cohort Studies; D018153:Czech Republic; D006970:Disorders of Excessive Somnolence / Q000235:genetics; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D059866:HLA-DQ beta-Chains / Q000235:genetics*; D006801:Humans; D020177:Idiopathic Hypersomnia / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009290:Narcolepsy / Q000235:genetics*; D000068797:Orexins / Q000378:metabolism; D012890:Sleep; D007319:Sleep Initiation and Maintenance Disorders / Q000235:genetics; D014851:Wakefulness
chemical_list: D059866:HLA-DQ beta-Chains; C069051:HLA-DQB1 antigen; D000068797:Orexins
keywords: Central hypersomnias; HLA-DQB1; Idiopathic hypersomnia; Narcolepsy