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学科主题医学信息学
Genome-Wide Analysis of Human SNPs at Long Intergenic Noncoding RNAs
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
2013-02-01
DOI10.1002/humu.22239
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
资助者National Basic Research program of China ; Natural Science Foundation of China ; National Basic Research program of China ; Natural Science Foundation of China
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
资助者National Basic Research program of China ; Natural Science Foundation of China ; National Basic Research program of China ; Natural Science Foundation of China
WOS记录号WOS:000314477700011
Citation statistics
Cited Times:18[WOS]   [WOS Record]     [Related Records in WOS]
文献类型期刊论文
版本出版稿
条目标识符http://ir.bjmu.edu.cn/handle/400002259/54339
Collection北京大学基础医学院_医学信息学系
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
GB/T 7714
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.
APA Chen, Geng,Qiu, Chengxiang,Zhang, Qipeng,Liu, Bing,&Cui, Qinghua.(2013).Genome-Wide Analysis of Human SNPs at Long Intergenic Noncoding RNAs.HUMAN MUTATION,34(2),338-344.
MLA Chen, Geng,et al."Genome-Wide Analysis of Human SNPs at Long Intergenic Noncoding RNAs".HUMAN MUTATION 34.2(2013):338-344.
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