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EIF3G is associated with narcolepsy across ethnicities
Holm, Anja1,2; Lin, Ling3,4; Faraco, Juliette3,4; Mostafavi, Sara5; Battle, Alexis5; Zhu, Xiaowei6; Levinson, Douglas F.6; Han, Fang7; Gammeltoft, Steen1; Jennum, Poul2; Mignot, Emmanuel3,4; Kornum, Birgitte R.1
刊名EUROPEAN JOURNAL OF HUMAN GENETICS
2015-10-01
DOI10.1038/ejhg.2015.4
23期:11页:1573-1580
收录类别SCI
文章类型Article
WOS标题词Science & Technology
类目[WOS]Biochemistry & Molecular Biology ; Genetics & Heredity
资助者Lundbeck Foundation ; NIH ; Lundbeck Foundation ; NIH
研究领域[WOS]Biochemistry & Molecular Biology ; Genetics & Heredity
关键词[WOS]WHOLE-GENOME ASSOCIATION ; PROTEIN-SYNTHESIS ; SUBUNIT ; VIRUS
英文摘要

Type 1 narcolepsy, an autoimmune disease affecting hypocretin (orexin) neurons, is strongly associated with HLA-DQB1(star)06:02. Among polymorphisms associated with the disease is single-nucleotide polymorphism rs2305795 (c.(star)638G>A) located within the P2RY11 gene. P2RY11 is in a region of synteny conserved in mammals and zebrafish containing PPAN, EIF3G and DNMT1 (DNA methyltransferase 1). As mutations in DNMT1 cause a rare dominant form of narcolepsy in association with deafness, cerebellar ataxia and dementia, we questioned whether the association with P2RY11 in sporadic narcolepsy could be secondary to linkage disequilibrium with DNMT1. Based on genome-wide association data from two cohorts of European and Chinese ancestry, we found that the narcolepsy association signal drops sharply between P2RY11/EIF3G and DNMT1, suggesting that the association with narcolepsy does not extend into the DNMT1 gene region. Interestingly, using transethnic mapping, we identified a novel single-nucleotide polymorphism rs3826784 (c.596-260A>G) in the EIF3G gene also associated with narcolepsy. The disease-associated allele increases EIF3G mRNA expression. EIF3G is located in the narcolepsy risk locus and EIF3G expression correlates with PPAN and P2RY11 expression. This suggests shared regulatory mechanisms that might be affected by the polymorphism and are of relevance to narcolepsy.

语种英语
所属项目编号P50 NS23724
资助者Lundbeck Foundation ; NIH ; Lundbeck Foundation ; NIH
WOS记录号WOS:000362916200024
引用统计
被引频次:5[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/400002259/59624
专题北京大学第二临床医学院
作者单位1.Stanford Univ, Dept Comp Sci, Palo Alto, CA 94304 USA
2.Stanford Univ, Sch Med, Dept Psychiat, Palo Alto, CA 94304 USA
3.Glostrup Univ Hosp, Dept Diagnost, Mol Sleep Lab, DK-2600 Glostrup, Denmark
4.Univ Copenhagen, Glostrup Hosp, Dept Neurophysiol, Danish Ctr Sleep Med, Glostrup, Denmark
5.Stanford Univ, Sch Med, Ctr Sleep Sci Med, Palo Alto, CA 94304 USA
6.Stanford Univ, Dept Psychiat & Behav Sci, Palo Alto, CA 94304 USA
7.Peking Univ, Peoples Hosp, Dept Pulm, Crit Care Med, Beijing 100871, Peoples R China
推荐引用方式
GB/T 7714
Holm, Anja,Lin, Ling,Faraco, Juliette,et al. EIF3G is associated with narcolepsy across ethnicities[J]. EUROPEAN JOURNAL OF HUMAN GENETICS,2015,23(11):1573-1580.
APA Holm, Anja.,Lin, Ling.,Faraco, Juliette.,Mostafavi, Sara.,Battle, Alexis.,...&Kornum, Birgitte R..(2015).EIF3G is associated with narcolepsy across ethnicities.EUROPEAN JOURNAL OF HUMAN GENETICS,23(11),1573-1580.
MLA Holm, Anja,et al."EIF3G is associated with narcolepsy across ethnicities".EUROPEAN JOURNAL OF HUMAN GENETICS 23.11(2015):1573-1580.
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