• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利:CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

文献检索

告别复杂PubMed语法,用中文像聊天一样搜索,搜遍4000万医学文献。AI智能推荐,让科研检索更轻松。

立即免费搜索

文件翻译

保留排版,准确专业,支持PDF/Word/PPT等文件格式,支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述,25分钟生成高质量综述,智能提取关键信息,辅助科研写作。

立即免费体验

基于家系设计的全基因组关联研究分析:一种通用、稳健的分析方法及其在四项全基因组关联研究中的应用。

On the analysis of genome-wide association studies in family-based designs: a universal, robust analysis approach and an application to four genome-wide association studies.

机构信息

Department of Statistics, Chung-Ang University, Seoul, Korea.

出版信息

PLoS Genet. 2009 Nov;5(11):e1000741. doi: 10.1371/journal.pgen.1000741. Epub 2009 Nov 26.

DOI:10.1371/journal.pgen.1000741
PMID:19956679
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC2777973/
Abstract

For genome-wide association studies in family-based designs, we propose a new, universally applicable approach. The new test statistic exploits all available information about the association, while, by virtue of its design, it maintains the same robustness against population admixture as traditional family-based approaches that are based exclusively on the within-family information. The approach is suitable for the analysis of almost any trait type, e.g. binary, continuous, time-to-onset, multivariate, etc., and combinations of those. We use simulation studies to verify all theoretically derived properties of the approach, estimate its power, and compare it with other standard approaches. We illustrate the practical implications of the new analysis method by an application to a lung-function phenotype, forced expiratory volume in one second (FEV1) in 4 genome-wide association studies.

摘要

对于基于家族设计的全基因组关联研究,我们提出了一种新的、普遍适用的方法。新的检验统计量利用了与关联有关的所有可用信息,同时,由于其设计,它保持了与传统仅基于家族内信息的基于家族的方法相同的抗群体混合能力。该方法适用于分析几乎任何性状类型,例如二项、连续、发病时间、多变量等,以及它们的组合。我们使用模拟研究来验证该方法所有理论上推导的性质,估计其功效,并与其他标准方法进行比较。我们通过对 4 项全基因组关联研究中的一个肺功能表型(一秒用力呼气量 FEV1)的应用来说明新分析方法的实际意义。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4aa6/2777973/23d2500c333a/pgen.1000741.g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4aa6/2777973/0de855f26d5e/pgen.1000741.g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4aa6/2777973/b6c0c4ef5e72/pgen.1000741.g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4aa6/2777973/23d2500c333a/pgen.1000741.g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4aa6/2777973/0de855f26d5e/pgen.1000741.g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4aa6/2777973/b6c0c4ef5e72/pgen.1000741.g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4aa6/2777973/23d2500c333a/pgen.1000741.g003.jpg

相似文献

1
On the analysis of genome-wide association studies in family-based designs: a universal, robust analysis approach and an application to four genome-wide association studies.基于家系设计的全基因组关联研究分析:一种通用、稳健的分析方法及其在四项全基因组关联研究中的应用。
PLoS Genet. 2009 Nov;5(11):e1000741. doi: 10.1371/journal.pgen.1000741. Epub 2009 Nov 26.
2
Maximizing the Power of Genome-Wide Association Studies: A Novel Class of Powerful Family-Based Association Tests.最大化全基因组关联研究的效能:一类新型的强大的基于家系的关联检验
Stat Biosci. 2009 Nov;1(2):125-143. doi: 10.1007/s12561-009-9016-z.
3
On the genome-wide analysis of copy number variants in family-based designs: methods for combining family-based and population-based information for testing dichotomous or quantitative traits, or completely ascertained samples.在基于家系设计的全基因组拷贝数变异分析中:用于联合基于家系和基于群体信息检测二分类或定量性状,或完全确定样本的方法。
Genet Epidemiol. 2010 Sep;34(6):582-90. doi: 10.1002/gepi.20515.
4
On genome-wide association studies for family-based designs: an integrative analysis approach combining ascertained family samples with unselected controls.基于家系设计的全基因组关联研究:一种整合分析方法,将已确定的家系样本与未经选择的对照相结合。
Am J Hum Genet. 2010 Apr 9;86(4):573-80. doi: 10.1016/j.ajhg.2010.02.019. Epub 2010 Mar 25.
5
On the meta-analysis of genome-wide association studies: a robust and efficient approach to combine population and family-based studies.关于全基因组关联研究的荟萃分析:一种整合人群研究和家系研究的稳健且高效的方法。
Hum Hered. 2012;73(1):35-46. doi: 10.1159/000331219. Epub 2012 Jan 18.
6
Two-stage testing strategies for genome-wide association studies in family-based designs.基于家系设计的全基因组关联研究的两阶段检验策略。
Methods Mol Biol. 2010;620:485-96. doi: 10.1007/978-1-60761-580-4_17.
7
An efficient genome-wide association test for mixed binary and continuous phenotypes with applications to substance abuse research.一种针对二元和连续混合表型的高效全基因组关联测试及其在药物滥用研究中的应用。
Stat Methods Med Res. 2018 Mar;27(3):905-919. doi: 10.1177/0962280216647422. Epub 2016 May 22.
8
A general framework for two-stage analysis of genome-wide association studies and its application to case-control studies.全基因组关联研究两阶段分析的一般框架及其在病例对照研究中的应用。
Am J Hum Genet. 2012 May 4;90(5):760-73. doi: 10.1016/j.ajhg.2012.03.007.
9
A modified two-stage approach for family-based genome-wide association studies.一种用于基于家系的全基因组关联研究的改良两阶段方法。
Eur J Hum Genet. 2014 Jan;22(1):148-51. doi: 10.1038/ejhg.2013.105. Epub 2013 May 22.
10
Heritability of pulmonary function estimated from genome-wide SNPs in healthy Japanese adults.基于健康日本成年人全基因组单核苷酸多态性估计的肺功能遗传度。
Respir Investig. 2015 Mar;53(2):60-7. doi: 10.1016/j.resinv.2014.10.004. Epub 2014 Nov 14.

引用本文的文献

1
A unifying framework for rare variant association testing in family-based designs, including higher criticism approaches, SKATs, and burden tests.基于家系设计的罕见变异关联测试的统一框架,包括高等批评方法、序列核关联检验(SKATs)和负担检验。
Bioinformatics. 2021 Apr 1;36(22-23):5432-5438. doi: 10.1093/bioinformatics/btaa1055.
2
Statistical Methods and Software for Substance Use and Dependence Genetic Research.物质使用与依赖遗传研究的统计方法与软件
Curr Genomics. 2019 Apr;20(3):172-183. doi: 10.2174/1389202920666190617094930.
3
Effect of population stratification on SNP-by-environment interaction.

本文引用的文献

1
Screening and replication using the same data set: testing strategies for family-based studies in which all probands are affected.使用相同数据集进行筛查和复制:针对所有先证者均患病的家系研究的检验策略。
PLoS Genet. 2008 Sep 19;4(9):e1000197. doi: 10.1371/journal.pgen.1000197.
2
Simple association analysis combining data from trios/sibships and unrelated controls.结合三联体/同胞对数据和无关对照数据的简单关联分析。
Genet Epidemiol. 2008 Sep;32(6):520-7. doi: 10.1002/gepi.20325.
3
A unified association analysis approach for family and unrelated samples correcting for stratification.
人群分层对 SNP-环境交互作用的影响。
Genet Epidemiol. 2019 Dec;43(8):1046-1055. doi: 10.1002/gepi.22250. Epub 2019 Aug 20.
4
A multiple regression method for genomewide association studies using only linkage information.一种仅使用连锁信息进行全基因组关联研究的多元回归方法。
J Genet. 2018 Jun;97(2):477-482.
5
On the association analysis of CNV data: a fast and robust family-based association method.关于拷贝数变异(CNV)数据的关联分析:一种快速且稳健的基于家系的关联方法。
BMC Bioinformatics. 2017 Apr 18;18(1):217. doi: 10.1186/s12859-017-1622-z.
6
Fast Genome-Wide QTL Association Mapping on Pedigree and Population Data.基于系谱和群体数据的快速全基因组QTL关联图谱分析
Genet Epidemiol. 2017 Apr;41(3):174-186. doi: 10.1002/gepi.21988. Epub 2016 Dec 12.
7
Relevance of the COPI complex for Alzheimer's disease progression in vivo.COPI复合体在体内对阿尔茨海默病进展的相关性。
Proc Natl Acad Sci U S A. 2016 May 10;113(19):5418-23. doi: 10.1073/pnas.1604176113. Epub 2016 Apr 25.
8
Family-based association analyses of imputed genotypes reveal genome-wide significant association of Alzheimer's disease with OSBPL6, PTPRG, and PDCL3.基于家系的推算基因型关联分析揭示了阿尔茨海默病与OSBPL6、PTPRG和PDCL3在全基因组范围内存在显著关联。
Mol Psychiatry. 2016 Nov;21(11):1608-1612. doi: 10.1038/mp.2015.218. Epub 2016 Feb 2.
9
Family-based association analysis: a fast and efficient method of multivariate association analysis with multiple variants.基于家系的关联分析:一种针对多个变异体进行多变量关联分析的快速有效方法。
BMC Bioinformatics. 2015 Feb 15;16:46. doi: 10.1186/s12859-015-0484-5.
10
PLD3 gene variants and Alzheimer's disease.磷脂酶D3基因变异与阿尔茨海默病。
Nature. 2015 Apr 2;520(7545):E7-8. doi: 10.1038/nature14040.
一种针对家族样本和无关样本校正分层的统一关联分析方法。
Am J Hum Genet. 2008 Feb;82(2):352-65. doi: 10.1016/j.ajhg.2007.10.009.
4
Family-based association tests for genomewide association scans.用于全基因组关联研究的基于家系的关联检验
Am J Hum Genet. 2007 Nov;81(5):913-26. doi: 10.1086/521580. Epub 2007 Sep 18.
5
Genomewide weighted hypothesis testing in family-based association studies, with an application to a 100K scan.基于家系的关联研究中的全基因组加权假设检验及其在100K扫描中的应用。
Am J Hum Genet. 2007 Sep;81(3):607-14. doi: 10.1086/519748. Epub 2007 Jul 17.
6
Genomewide rapid association using mixed model and regression: a fast and simple method for genomewide pedigree-based quantitative trait loci association analysis.使用混合模型和回归进行全基因组快速关联分析:一种基于家系的全基因组数量性状位点关联分析的快速简便方法。
Genetics. 2007 Sep;177(1):577-85. doi: 10.1534/genetics.107.075614. Epub 2007 Jul 29.
7
No gene is an island: the flip-flop phenomenon.没有哪个基因是一座孤岛:基因的激活与抑制现象。
Am J Hum Genet. 2007 Mar;80(3):531-8. doi: 10.1086/512133. Epub 2007 Jan 22.
8
Principal components analysis corrects for stratification in genome-wide association studies.主成分分析可校正全基因组关联研究中的分层现象。
Nat Genet. 2006 Aug;38(8):904-9. doi: 10.1038/ng1847. Epub 2006 Jul 23.
9
Improving the power of association tests for quantitative traits in family studies.提高家系研究中数量性状关联检验的效能。
Genet Epidemiol. 2006 May;30(4):301-13. doi: 10.1002/gepi.20145.
10
Family-based association test for time-to-onset data with time-dependent differences between the hazard functions.基于家系的发病时间数据关联检验,其风险函数存在时间依赖性差异。
Genet Epidemiol. 2006 Feb;30(2):124-32. doi: 10.1002/gepi.20132.