CAJ | 학술논문

目的分析发作性睡病患者人类白细胞组织相容性抗原(HLA)-DQB1* 0602基因阳性率.方法 1998年8月至2011年7月在北京大学人民医院睡眠中心确诊的发作性睡病患者共1 223例,根据临床表现中有无典型猝倒将其分为猝倒组(1 132例)与非猝倒组(91例)2组,将其中发病年龄明确的1 218例患者根据发病年龄分为早发型组(发病年龄≤15岁,1 037例)和晚发型组(发病年龄＞15岁,181例).患者均进行特异性引物-聚合酶链反应技术测定HLA-DQB1* 0602基因型,其中156例进行了脑脊液下丘脑分泌素(hcrt)-1的测定,并据此分为hcrt缺失组(hcrt-1＜138 ng/L,115例)和hcrt正常组(hcrt-1≥138 ng/L,41例).另征集728名健康志愿者为对照组,对各组研究对象的HLA-DQB1*0602阳性情况进行调查分析.结果发作性睡病患者中男825例(67.5％),女398例(32.5％),就诊时平均年龄为(16.6±12.6)岁；对照组中男443名(60.9％),女285名(39.1％),平均年龄为(26.6±11.4)岁.患者总体HLA-DQB1* 0602阳性率为94.7％(1 158/1 223),其中猝倒组为97.0％(1 098/1 132),非猝倒组为65.9％ (60/91) (x2=155.4,P=0.000),三者均高于对照组的19.5％ (142/728).早发型患者阳性率为95.5％(990/1 037),晚发型患者为90.1％(163/181)(x2=9.25,P=0.010).hcrt缺失组阳性率为98.3％(113/115),hcrt正常组为25.6％(11/43)(x2=94.6,P=0.001).结论 HLA-DQB1* 0602在发作性睡病患者中阳性率高,伴有典型猝倒、早发以及hcrt缺失者阳性率更高.
목적 분석발작성수병환자인류백세포조직상용성항원(HLA)-DQB1* 0602기인양성솔.방법 1998년8월지2011년7월재북경대학인민의원수면중심학진적발작성수병환자공1 223례,근거림상표현중유무전형졸도장기분위졸도조(1 132례)여비졸도조(91례)2조,장기중발병년령명학적1 218례환자근거발병년령분위조발형조(발병년령≤15세,1 037례)화만발형조(발병년령＞15세,181례).환자균진행특이성인물-취합매련반응기술측정HLA-DQB1* 0602기인형,기중156례진행료뇌척액하구뇌분비소(hcrt)-1적측정,병거차분위hcrt결실조(hcrt-1＜138 ng/L,115례)화hcrt정상조(hcrt-1≥138 ng/L,41례).령정집728명건강지원자위대조조,대각조연구대상적HLA-DQB1*0602양성정황진행조사분석.결과 발작성수병환자중남825례(67.5％),녀398례(32.5％),취진시평균년령위(16.6±12.6)세；대조조중남443명(60.9％),녀285명(39.1％),평균년령위(26.6±11.4)세.환자총체HLA-DQB1* 0602양성솔위94.7％(1 158/1 223),기중졸도조위97.0％(1 098/1 132),비졸도조위65.9％ (60/91) (x2=155.4,P=0.000),삼자균고우대조조적19.5％ (142/728).조발형환자양성솔위95.5％(990/1 037),만발형환자위90.1％(163/181)(x2=9.25,P=0.010).hcrt결실조양성솔위98.3％(113/115),hcrt정상조위25.6％(11/43)(x2=94.6,P=0.001).결론 HLA-DQB1* 0602재발작성수병환자중양성솔고,반유전형졸도、조발이급hcrt결실자양성솔경고.
Objective To explore the association of narcolepsy with human leukocyte histocompatibility antigen (HLA)-DQB1 * 0602 allele in Chinese narcoleptic patients and examine its relationship with different phenotypes.Methods A total of 1 223 narcoleptic patients (NC,narcolepsy with typical cataplexy,n =1 132; NWC,narcolepsy without cataplexy,n =91) diagnosed at Sleep Center of Peking University People's Hospital from August 1998 to July 2011 were recruited into this retrospective study.According to the onset age,they were divided into early-onset group (onset age ≤ 15y,n =1 037) and late-onset group (onset age ＞ 15y,n =181).All of them underwent a polymerase chain reaction with specific sequence primer (PCR-SSP) HLA-DQB1 * 0602 typing.And the cerebrospinal fluid levels of hypocretin-1 (hcrt-1) were measured in 156 narcoleptic patients and they were divided into hcrt deficiency group (hcrt-1 ＜ 138 ng/L,n =115) and hcrt normal group (hcrt-1 ≥ 138 ng/L,n =41).And 728 healthy volunteers were selected as control group.The expression positivity of HLA-DQB1 * 0602 gene was analyzed for each group.Results There were 1 223 narcoleptic patients including 825 males (67.5％) and 398 females (32.5％) with an average age of (16.6 ± 12.6) years on visiting.There were 728 normal controls including 443 males (60.9％) and 285 females (39.1％) with an average age of (26.6 ± 11.4) years on blood sampling.The positive rate of HLA-DQB1 * 0602 in narcoleptic,NC and NWC groups was 94.7％ (1 158/1 223),97.0％ (1 098/1 132) and 65.9％ (60/91) respectively.NC group had a higher rate of HLA-DQB1 * 0602 positivity (x2 =155.4,P =0.000).Both groups were higher than that in control group of 19.5％ (142/728).The positive rate of HLA-DQB1 * 0602 in early-onset group was 95.5％ (990/1 037) versus 90.1％ (163/181) in late-onset group (x2 =9.25,P =0.010).Among those with hcrt-1 measurement,98.3％ (113/115) were HLA-DQB1 * 0602 positive in hcrt deficiency narcolepsy group versus 25.6％ (11/43) in hcrt non-deficiency group (x2 =94.6,P =0.001).Conclusions HLA-DQB1 * 0602 is an important marker in this large sample of Chinese patients with narcolepsy.Its frequency is much higher in patients with cataplexy,early-onset age and hcrt-1 deficiency.