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首页> 外文期刊>Annals of Human Genetics >Genome‐wide association study of lncRNA polymorphisms with bone mineral density
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Genome‐wide association study of lncRNA polymorphisms with bone mineral density

机译：骨密度LNCRNA多态性的基因组 - 型缔合物研究

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摘要

Abstract Recent studies suggested that long noncoding RNAs (lncRNAs) were widely transcribed in the genome, but their potential roles in the genetic complexity of human disorders required further exploration. The purpose of the present study was to explore genetic polymorphisms of lncRNAs associated with bone mineral density (BMD) and its potential value. Based on the lncRNASNP database, 55,906 lncSNPs were selected to conduct a genome‐wide association study meta‐analysis among 11,140 individuals of seven independent studies for BMDs at femoral neck (FN), lumbar spine, and total hip (HIP). Promising results were replicated in Genetic Factors for Osteoporosis Consortium (GEFOS Sequencing, n ?=?32,965). We found two lncRNA loci that were significantly associated with BMD. MEF2C antisense RNA 1 ( MEF2C ‐AS1) located at 5q14.3 was significantly associated with FN‐BMD after Bonferroni correction, and the strongest association signal was detected at rs6894139 ( P ?=?3.03?×?10 ?9 ). LOC100506136 rs6465531 located at 7q21.3 showed significant association with HIP‐BMD ( P ?=?7.43?×?10 ?7 ). MEF2C ‐AS1 rs6894139 was replicated in GEFOS Sequencing with P ‐value of 1.43?×?10 ?23 . Our results illustrated the important role of polymorphisms in lncRNAs in determining variations of BMD and provided justification and evidence for subsequent functional studies.
机译：摘要最近的研究表明，长期非编码RNA（LNCRNA）在基因组中广泛转录，但它们在人类疾病遗传复杂性中的潜在作用需要进一步探索。本研究的目的是探讨与骨矿物密度（BMD）相关的LNCRNA的遗传多态性及其潜在价值。基于LNCRNASNP数据库，选择55,906LNCSNPS进行基因组 - 宽协会研究，在股骨颈（FN），腰椎和总髋部（臀部）的BMDS中的七项独立研究中的11,140个个体中。有希望的结果被复制在骨质疏松联盟联盟的遗传因素中（GEFOS测序，N？= 32,965）。我们发现两种LNCRNA基因座与BMD显着相关。在Bonferroni校正之后，位于5Q14.3的MEF2C反义RNA 1（MEF2C -AS1）与FN-BMD显着相关，并且在RS6894139检测到最强的关联信号（P？= 3.03？×10？9）。 LOC100506136 RS6465531 RS6465531位于7Q21.3显示出与HIP-BMD的显着关联（P？= 7.43？×10？7）。 MEF2C -AS1 RS6894139在GEFOS测序中复制，P-value为1.43？×10？23。我们的结果说明了多态性在LNCRNA在确定BMD的变化中的重要作用，并为后续功能研究提供了理由和证据。

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  • 来源
    《Annals of Human Genetics》 |2018年第5期|共10页
  • 作者

    Zeng Qin; Wu Ke‐Hao; Liu Kun; Hu Yuan; Chen Xiang‐Ding; Zhang Lei; Shen Hui; Tian Qin; Zhao Lan‐Juan; Deng Hong‐Wen; Tan Li‐Jun;

  • 作者单位

    Laboratory of Molecular and Statistical Genetics College of Life SciencesHunan Normal;

    Laboratory of Molecular and Statistical Genetics College of Life SciencesHunan Normal;

    Laboratory of Molecular and Statistical Genetics College of Life SciencesHunan Normal;

    Laboratory of Molecular and Statistical Genetics College of Life SciencesHunan Normal;

    Laboratory of Molecular and Statistical Genetics College of Life SciencesHunan Normal;

    Center of Bioinformatics and Genomics School of Public Health and Tropical MedicineTulane;

    Center of Bioinformatics and Genomics School of Public Health and Tropical MedicineTulane;

    Center of Bioinformatics and Genomics School of Public Health and Tropical MedicineTulane;

    Center of Bioinformatics and Genomics School of Public Health and Tropical MedicineTulane;

    Laboratory of Molecular and Statistical Genetics College of Life SciencesHunan Normal;

    Laboratory of Molecular and Statistical Genetics College of Life SciencesHunan Normal;

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  • 原文格式 PDF
  • 正文语种 eng
  • 中图分类 医学遗传学;
  • 关键词

    Bone mineral density; Genome‐wide association study; Long noncoding RNAs; Meta‐analysis;

    机译：骨矿物密度;基因组 - 宽协会研究;长度非编码RNA;META分析;

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