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学科主题: 临床医学
题名:
EIF3G is associated with narcolepsy across ethnicities
作者: 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
发表日期: 2015-10-01
DOI: 10.1038/ejhg.2015.4
卷: 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
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
项目资助者: Lundbeck Foundation ; NIH
WOS记录号: WOS:000362916200024
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/59624
Appears in Collections:北京大学第二临床医学院_期刊论文

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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

Recommended Citation:
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.
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