Vrana Milena, Siffnerova Vera, Pecherkova Pavla, Ratajova Eva, Sonka Karel
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.
Arch Immunol Ther Exp (Warsz). 2016 Dec;64(Suppl 1):89-98. doi: 10.1007/s00005-016-0435-5. Epub 2017 Jan 12.
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. DQB106:02 allele was present in 94% of the NT1 patients. The decrease of DQB106:03 allele was also confirmed. No other DQB106 allele nor any other DQB1 allele group was differently distributed in the NT1. In the cohort of NT2 patients DQB106:02 allele was present in 43%. Allele group DQB05 was detected with a significantly higher frequency in this diagnostic unit. Any differences in presence of DQB105 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. DQB106:02 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 DQB106:02 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.
我们研究的目的是分析HLA - DQB1在捷克中枢性睡眠增多症患者中的分布情况,以及发作性睡病1型(NT1)、2型(NT2)、特发性嗜睡症(IH)和无中枢性睡眠增多症受试者(无CH)各诊断组之间的差异。对716例报告有日间过度嗜睡的患者(375例男性,341例女性)进行了DQB1基因分型的统计分析。94%的NT1患者存在DQB106:02等位基因。DQB106:03等位基因的减少也得到了证实。在NT1中,没有其他DQB106等位基因或任何其他DQB1等位基因组的分布存在差异。在NT2患者队列中,43%的患者存在DQB106:02等位基因。在该诊断组中检测到DQB05等位基因组的频率显著更高。目前尚未报告NT2患者中DQB105等位基因存在的任何差异。与健康对照相比,IH患者队列在DQB1等位基因/等位基因组的等位基因分布上没有显示出任何差异。无嗜睡症组中DQB106:02等位基因显著增加。与健康对照相比,患者中没有其他DQB1等位基因/等位基因组在分布上有任何差异。在所分析的诊断组中检测到DQB106:02和其他DQB1等位基因/等位基因组的不同分布。这些结果表明,DQB1以不同方式促成了NT1、NT2、IH和无CH的遗传易感性。