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人类白细胞抗原与梦游的遗传易感性。

HLA and genetic susceptibility to sleepwalking.

作者信息

Lecendreux M, Bassetti C, Dauvilliers Y, Mayer G, Neidhart E, Tafti M

机构信息

Service de Psycopathologie de l'Enfant et de l'Adolescent, Hôpital Robert Dobré, Paris, France.

出版信息

Mol Psychiatry. 2003 Jan;8(1):114-7. doi: 10.1038/sj.mp.4001203.

Abstract

HLA-DQB1 typing was performed in 60 Caucasian subjects with sleepwalking (SW) disorder and their families and 60 ethnically matched subjects without any diagnosed sleep disorder. A total of 21 sleepwalkers (35.0%) were DQB10501 positive vs eight (13.3%) controls (P = 0.0056; odds ratio = 3.5, 95% CI = 1.4-8.7). The family data for all HLA subtypes were further assessed for allelic association with SW using the transmission-disequilibrium test. A significant excess transmission was observed for DQB105 and 04 alleles in familial cases, strongly suggesting that a DQB1 polymorphic amino acid might be more tightly associated than any single allele. Sequence screening revealed that Ser74 in the second exon shared by all DQB105 and *04 was 20 times transmitted against 4 times non-transmitted (P = 0.001) in familial cases of SW. Thus, together with narcolepsy and REM sleep behavior disorder, these findings suggest that specific DQB1 genes are implicated in disorders of motor control during sleep.

摘要

对60名患有梦游(SW)障碍的白种人受试者及其家属,以及60名种族匹配、未被诊断出患有任何睡眠障碍的受试者进行了HLA - DQB1分型。共有21名梦游者(35.0%)DQB10501呈阳性,而对照组中有8名(13.3%)呈阳性(P = 0.0056;优势比 = 3.5,95%置信区间 = 1.4 - 8.7)。使用传递不平衡检验进一步评估了所有HLA亚型的家族数据与SW的等位基因关联。在家族性病例中,观察到DQB105和04等位基因有显著的过度传递,强烈表明DQB1多态性氨基酸可能比任何单个等位基因的关联更紧密。序列筛查显示,在家族性梦游病例中,所有DQB105和*04共有的第二外显子中的Ser74传递了20次,未传递4次(P = 0.001)。因此,连同发作性睡病和快速眼动睡眠行为障碍一起,这些发现表明特定的DQB1基因与睡眠期间的运动控制障碍有关。

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