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Genome-Wide Analysis of Human SNPs at Long Intergenic Noncoding RNAs

文献类型：期刊论文

作者Chen, Geng1; Qiu, Chengxiang1,2; Zhang, Qipeng1; Liu, Bing2; Cui, Qinghua1,3,4
刊名HUMAN MUTATION
出版日期2013-02-01
卷号34期号:2页码:338-344
关键词long intergenic noncoding RNA SNP Alzheimer disease brain
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.
WOS标题词Science & Technology ; Life Sciences & Biomedicine
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
收录类别SCI
语种英语
WOS记录号WOS:000314477700011
源URL[http://ir.ia.ac.cn/handle/173211/3205]  
专题自动化研究所_脑网络组研究中心
作者单位1.Peking Univ, Sch Basic Med Sci, Dept Biomed Informat, Beijing 100191, Peoples R China
2.Chinese Acad Sci, LIAMA Ctr Computat Med, Natl Lab Pattern Recognit, Inst Automat, Beijing 100190, Peoples R China
3.Peking Univ, Inst Syst Biomed, Beijing 100191, Peoples R China
4.Peking Univ, MOE Key Lab Mol Cardiovasc Sci, Beijing 100191, Peoples R China
推荐引用方式
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.

入库方式： OAI收割

来源：自动化研究所

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