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学科主题: 医学信息学
题名:
Genome-Wide Analysis of Human SNPs at Long Intergenic Noncoding RNAs
作者: Chen, Geng1; Qiu, Chengxiang1,2; Zhang, Qipeng1; Liu, Bing2; Cui, Qinghua1,3,4
关键词: long intergenic noncoding RNA ; SNP ; Alzheimer disease ; brain
刊名: HUMAN MUTATION
发表日期: 2013-02-01
DOI: 10.1002/humu.22239
卷: 34, 期:2, 页:338-344
收录类别: SCI
文章类型: Article
WOS标题词: Science & Technology
类目[WOS]: Genetics & Heredity
研究领域[WOS]: Genetics & Heredity
关键词[WOS]: MICRORNA TARGET SITES ; BIRTH-WEIGHT ; POLYMORPHISMS ; GENES ; IDENTIFICATION ; DATABASE ; H19 ; ASSOCIATION ; CANCER ; RISK
英文摘要:

Long intergenic noncoding RNAs (lincRNAs) represent a large portion of the noncoding genes in mammals and other eukaryotes but remains among the least well-understood of genetic factors to date. Here, we systematically analyzed the human SNPs of lincRNAs at a genome level. We found a significantly lower SNP density in lincRNA regions than both their upstream and downstream flanking regions. Functional regions show lower SNP density than other regions in lincRNAs. We revealed that lincRNAs with higher expression levels and broader expression spectrum have significantly lower SNP density. Moreover, we identified lincRNAs that are under recent positive selection and revealed that these lincRNAs show distinct SNP density, expression level, and tissue specificity. Importantly, we identified a genetic variant (rs7990916:T>C) under recent positive selection at a brain-specific lincRNA that significantly affects the structure of normal brain. Analysis of brain magnetic resonance images showed that individuals with CC genotype have significant bigger regional gray matter volume than individuals with TT genotype. Moreover, the genotype of this SNP shows different distribution in normal elders, mild cognitive impairment, and Alzheimer disease subjects, suggesting that this lincRNA may have a role in physiology and pathophysiology of human brain.

语种: 英语
所属项目编号: 2012CB517500 ; 31000585 ; 81000582
项目资助者: National Basic Research program of China ; Natural Science Foundation of China
WOS记录号: WOS:000314477700011
Citation statistics:
内容类型: 期刊论文
版本: 出版稿
URI标识: http://ir.bjmu.edu.cn/handle/400002259/54339
Appears in Collections:基础医学院_医学信息学系_期刊论文

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作者单位: 1.Peking Univ, Inst Syst Biomed, Beijing 100191, Peoples R China
2.Peking Univ, Sch Basic Med Sci, Dept Biomed Informat, Beijing 100191, Peoples R China
3.Chinese Acad Sci, LIAMA Ctr Computat Med, Natl Lab Pattern Recognit, Inst Automat, Beijing 100190, Peoples R China
4.Peking Univ, MOE Key Lab Mol Cardiovasc Sci, Beijing 100191, Peoples R China

Recommended Citation:
Chen, Geng,Qiu, Chengxiang,Zhang, Qipeng,et al. Genome-Wide Analysis of Human SNPs at Long Intergenic Noncoding RNAs[J]. HUMAN MUTATION,2013,34(2):338-344.
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