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HLA-DQ association and allele competition in Chinese narcolepsy
Han, F.1; Lin, L.2; Li, J.1; Dong, S. X.1; An, P.1; Zhao, L.1; Liu, N. Y.1; Li, Q. Y.1; Yan, H.1; Gao, Z. C.1; Faraco, J.2; Strohl, K. P.3,4; Liu, X.5; Miyadera, H.6; Mignot, E.2
关键词DQB1*06:02 DRB1*15:01 human leucocyte antigen narcolepsy
刊名TISSUE ANTIGENS
2012-10-01
DOI10.1111/j.1399-0039.2012.01948.x
80期:4页:328-335
收录类别SCI
文章类型Article
WOS标题词Science & Technology
类目[WOS]Cell Biology ; Immunology ; Pathology
资助者National Science Foundation of China ; Sino-German Center for Research Promotion ; Beijing Municipal Science and Technology Commission ; US National Institute of Health ; National Science Foundation of China ; Sino-German Center for Research Promotion ; Beijing Municipal Science and Technology Commission ; US National Institute of Health
研究领域[WOS]Cell Biology ; Immunology ; Pathology
关键词[WOS]GENOME-WIDE ASSOCIATION ; CLASS-II ALLELES ; INVARIANT CHAIN ; ETHNIC-GROUPS ; CATAPLEXY ; HAPLOTYPES ; SUSCEPTIBILITY ; PREVALENCE ; POPULATION ; ONSET
英文摘要

In Japanese, Koreans and Caucasians, narcolepsy/hypocretin deficiency is tightly associated with the DRB1*15:01-DQA1*01:02-DQB1*06:02 haplotype. Studies in African-Americans suggest a primary effect of DQB1*06:02, but this observation has been difficult to confirm in other populations because of high linkage disequilibrium between DRB1*15:01/3 and DQB1*06:02 in most populations. In this study, we studied human leucocyte antigen (HLA) class II in 202 Chinese narcolepsy patients (11% from South China) and found all patients to be DQB1*06:02 positive. Comparing cases with 103 unselected controls, and 110 and 79 controls selected for the presence of DQB1*06:02 and DRB1*15:01, we found that the presence of DQB1*06:02 and not DRB1*15:01 was associated with narcolepsy. In particular, Southern Chinese haplotypes such as the DRB1*15:01-DQA1*01:02-DQB1*06:01 and DRB1*15:01-DQA1*01:02-DQB1*05 were not associated with narcolepsy. As reported in Japanese, Koreans, African-Americans and Caucasians, additional protective effects of DQA1*01 (non-DQA1*01:02) and susceptibility effects of DQB1*03:01 were observed. These results illustrate the extraordinary conservation of HLA class II effects in narcolepsy across populations and show that DRB1*15:01 has no effect on narcolepsy susceptibility in the absence of DQB1*06:02. The results are also in line with a previously proposed HLA-DQ allelic competition model that involves competition between non-DQA1*01:02, non-DQB1*06:02 competent (able to dimerize together) DQ1 alleles and the major DQa*01:02/ DQ beta*06:02 narcolepsy heterodimer to reduce susceptibility.

语种英语
所属项目编号81070069 ; GZ538 ; D1011000050010029 ; U01-NS073581 ; P50-NS23724
资助者National Science Foundation of China ; Sino-German Center for Research Promotion ; Beijing Municipal Science and Technology Commission ; US National Institute of Health ; National Science Foundation of China ; Sino-German Center for Research Promotion ; Beijing Municipal Science and Technology Commission ; US National Institute of Health
WOS记录号WOS:000308938000005
引用统计
被引频次:24[WOS]   [WOS记录]     [WOS相关记录]
文献类型期刊论文
条目标识符http://ir.bjmu.edu.cn/handle/400002259/65646
专题北京大学第二临床医学院_呼吸科
作者单位1.Stanford Ctr Sleep Sci & Med, Palo Alto, CA USA
2.Cleveland Louis Stokes VA Med Ctr, Cleveland, OH USA
3.BFR Diagnost LTD, Beijing, Peoples R China
4.Univ Tokyo, Dept Human Genet, Tokyo, Japan
5.Beijing Univ, Peoples Hosp, Dept Pulm Med, Beijing 100871, Peoples R China
6.Case Western Reserve Univ, Dept Med, Div Pulm Crit Care & Sleep Med, Cleveland, OH 44106 USA
推荐引用方式
GB/T 7714
Han, F.,Lin, L.,Li, J.,et al. HLA-DQ association and allele competition in Chinese narcolepsy[J]. TISSUE ANTIGENS,2012,80(4):328-335.
APA Han, F..,Lin, L..,Li, J..,Dong, S. X..,An, P..,...&Mignot, E..(2012).HLA-DQ association and allele competition in Chinese narcolepsy.TISSUE ANTIGENS,80(4),328-335.
MLA Han, F.,et al."HLA-DQ association and allele competition in Chinese narcolepsy".TISSUE ANTIGENS 80.4(2012):328-335.
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