• 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

遗传率缺失问题的三条腿。

Three legs of the missing heritability problem.

机构信息

Columbia University, The Hastings Center, USA.

University of Virginia, USA.

出版信息

Stud Hist Philos Sci. 2022 Jun;93:183-191. doi: 10.1016/j.shpsa.2022.04.004. Epub 2022 May 6.

DOI:10.1016/j.shpsa.2022.04.004
PMID:35533541
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9172633/
Abstract

The so-called 'missing heritability problem' is often characterized by behavior geneticists as a numerical discrepancy between alternative kinds of heritability. For example, while 'traditional heritability' derived from twin and family studies indicates that approximately ∼50% of variation in intelligence is attributable to genetics, 'SNP heritability' derived from genome-wide association studies indicates that only ∼10% of variation in intelligence is attributable to genetics. This 40% gap in variance accounted for by alternative kinds of heritability is frequently referred to as what's "missing." Philosophers have picked up on this reading, suggesting that "dissolving" the missing heritability problem is merely a matter of closing the numerical gap between traditional and molecular kinds of heritability. We argue that this framing of the problem undervalues the severity of the many challenges to scientific understanding of the "heritability" of human behavior. On our view, resolving the numerical discrepancies between alternative kinds of heritability will do little to advance scientific explanation and understanding of behavior genetics. Thus, we propose a new conceptual framework of the missing heritability problem that comprises three independent methodological and explanatory challenges: the numerical gap, the prediction gap, and the mechanism gap.

摘要

所谓的“遗传缺失问题”通常被行为遗传学家描述为不同类型遗传率之间的数值差异。例如,虽然来自双胞胎和家庭研究的“传统遗传率”表明,智力的大约 50%可归因于遗传,但来自全基因组关联研究的“SNP 遗传率”表明,智力的只有大约 10%可归因于遗传。这种由不同类型遗传率解释的方差差异约为 40%,通常被称为“缺失”的部分。哲学家们注意到了这种解读,认为“解决”遗传缺失问题仅仅是缩小传统和分子遗传率之间的数值差距的问题。我们认为,这种对问题的表述低估了科学理解人类行为“遗传性”所面临的许多挑战的严重性。在我们看来,解决不同类型遗传率之间的数值差异对推进行为遗传学的科学解释和理解几乎没有帮助。因此,我们提出了一个新的遗传缺失问题的概念框架,其中包括三个独立的方法学和解释性挑战:数值差距、预测差距和机制差距。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ad1c/9172633/d6ca4769f97a/nihms-1805205-f0001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ad1c/9172633/d6ca4769f97a/nihms-1805205-f0001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ad1c/9172633/d6ca4769f97a/nihms-1805205-f0001.jpg

相似文献

1
Three legs of the missing heritability problem.遗传率缺失问题的三条腿。
Stud Hist Philos Sci. 2022 Jun;93:183-191. doi: 10.1016/j.shpsa.2022.04.004. Epub 2022 May 6.
2
Childhood behaviour problems show the greatest gap between DNA-based and twin heritability.儿童行为问题在基于 DNA 的遗传率和双胞胎遗传率之间存在最大差距。
Transl Psychiatry. 2017 Dec 12;7(12):1284. doi: 10.1038/s41398-017-0046-x.
3
Assumptions and properties of limiting pathway models for analysis of epistasis in complex traits.连锁不平衡模型在复杂性状上位性分析中的假设和性质。
PLoS One. 2013 Jul 30;8(7):e68913. doi: 10.1371/journal.pone.0068913. Print 2013.
4
Explaining the influence of non-shared environment (NSE) on symptoms of behaviour problems from preschool to adulthood: mind the missing NSE gap.解释非共享环境(NSE)对从学前到成年期行为问题症状的影响:注意缺失的 NSE 差距。
J Child Psychol Psychiatry. 2023 May;64(5):747-757. doi: 10.1111/jcpp.13729. Epub 2022 Nov 27.
5
Heritability jointly explained by host genotype and microbiome: will improve traits prediction?由宿主基因型和微生物组共同解释的遗传力:是否会提高性状预测?
Brief Bioinform. 2021 May 20;22(3). doi: 10.1093/bib/bbaa175.
6
Missing heritability and strategies for finding the underlying causes of complex disease.复杂疾病遗传率缺失及其潜在病因的研究策略。
Nat Rev Genet. 2010 Jun;11(6):446-50. doi: 10.1038/nrg2809.
7
Dominant Genetic Variation and Missing Heritability for Human Complex Traits: Insights from Twin versus Genome-wide Common SNP Models.人类复杂性状的显性遗传变异与缺失遗传力:来自双胞胎与全基因组常见单核苷酸多态性模型的见解
Am J Hum Genet. 2015 Nov 5;97(5):708-14. doi: 10.1016/j.ajhg.2015.10.004.
8
Twins and the mystery of missing heritability: the contribution of gene-environment interactions.双胞胎与遗传缺失之谜:基因-环境相互作用的贡献。
J Intern Med. 2012 Nov;272(5):440-8. doi: 10.1111/j.1365-2796.2012.02587.x. Epub 2012 Oct 11.
9
Quantitative genetics: heritability is not always missing.数量遗传学:遗传率并非总是缺失的。
Curr Biol. 2013 Apr 8;23(7):R276-8. doi: 10.1016/j.cub.2013.02.040.
10
Elements of 'missing heritability'.“遗传缺失”的要素。
Curr Opin Cardiol. 2012 May;27(3):197-201. doi: 10.1097/HCO.0b013e328352707d.

引用本文的文献

1
Clustering of lymphoid neoplasms by cell of origin, somatic mutation and drug usage profiles: a multi-trait genome-wide association study.基于起源细胞、体细胞突变和药物使用谱对淋巴肿瘤进行聚类分析:一项多性状全基因组关联研究。
Blood Cancer J. 2025 Aug 29;15(1):147. doi: 10.1038/s41408-025-01351-4.
2
Transcripts of splicing factors with time-varying associations with survival outcomes in colorectal cancer.在结直肠癌中,剪接因子转录本与生存结果的时间变化关联。
Am J Cancer Res. 2025 Jul 15;15(7):3128-3141. doi: 10.62347/DWPA1730. eCollection 2025.
3
BIGFAM - variance components analysis from relatives without genotype.

本文引用的文献

1
Low and differential polygenic score generalizability among African populations due largely to genetic diversity.由于遗传多样性,非洲人群中的低和差异多基因评分普遍适用性在很大程度上受到影响。
HGG Adv. 2023 Feb 13;4(2):100184. doi: 10.1016/j.xhgg.2023.100184. eCollection 2023 Apr 13.
2
Stability of polygenic scores across discovery genome-wide association studies.全基因组关联研究发现中多基因评分的稳定性。
HGG Adv. 2022 Jan 21;3(2):100091. doi: 10.1016/j.xhgg.2022.100091. eCollection 2022 Apr 14.
3
Half a century later and we're back where we started: How the problem of locality turned in to the problem of portability.
BIGFAM - 无基因型亲属的方差成分分析
Nat Commun. 2025 Jul 1;16(1):5476. doi: 10.1038/s41467-025-60502-0.
4
A mathematical framework for the quantitative analysis of genetic buffering.用于基因缓冲定量分析的数学框架。
PLoS Genet. 2025 Jun 10;21(6):e1011730. doi: 10.1371/journal.pgen.1011730. eCollection 2025 Jun.
5
Genomics and psychiatric nosology: avoiding hype, maintaining hope.基因组学与精神疾病分类学:避免炒作,保持希望。
World Psychiatry. 2025 Jun;24(2):190-191. doi: 10.1002/wps.21301.
6
Integration of GWAS, QTLs and keratinocyte functional assays reveals molecular mechanisms of atopic dermatitis.全基因组关联研究(GWAS)、数量性状基因座(QTL)与角质形成细胞功能分析的整合揭示了特应性皮炎的分子机制。
Nat Commun. 2025 Apr 1;16(1):3101. doi: 10.1038/s41467-025-58310-7.
7
Shared Genetic Architecture Between COVID-19 Severity and Alzheimer's Disease Across European and African Ancestries.欧洲和非洲血统人群中新冠病毒疾病严重程度与阿尔茨海默病之间的共享遗传结构
Res Sq. 2024 Dec 24:rs.3.rs-5619229. doi: 10.21203/rs.3.rs-5619229/v1.
8
Infrastructuring Educational Genomics: Associations, Architectures, and Apparatuses.构建教育基因组学:关联、架构与器具
Postdigit Sci Educ. 2024;6(4):1143-1172. doi: 10.1007/s42438-023-00451-3. Epub 2024 Feb 3.
9
How to Diagnose Abhorrent Science.如何诊断不良科学。
Hastings Cent Rep. 2024 Nov;54(6):18-29. doi: 10.1002/hast.4946.
10
The Geneticization of Education and Its Bioethical Implications.教育的基因化及其生物伦理意义。
Camb Q Healthc Ethics. 2024 Nov 7:1-17. doi: 10.1017/S096318012400046X.
半个世纪过去了,我们又回到了原点:局部性问题如何演变成可移植性问题。
Stud Hist Philos Sci. 2022 Feb;91:1-9. doi: 10.1016/j.shpsa.2021.10.021. Epub 2021 Nov 12.
4
Polygenic scores: prediction versus explanation.多基因评分:预测与解释。
Mol Psychiatry. 2022 Jan;27(1):49-52. doi: 10.1038/s41380-021-01348-y. Epub 2021 Oct 22.
5
A Polygenic Risk Score to Predict Future Adult Short Stature Among Children.一种预测儿童未来成年矮身材的多基因风险评分。
J Clin Endocrinol Metab. 2021 Jun 16;106(7):1918-1928. doi: 10.1210/clinem/dgab215.
6
Use of SNP chips to detect rare pathogenic variants: retrospective, population based diagnostic evaluation.使用 SNP 芯片检测罕见的致病性变异:回顾性、基于人群的诊断评估。
BMJ. 2021 Feb 15;372:n214. doi: 10.1136/bmj.n214.
7
Polygenic Scores for Height in Admixed Populations.混合人群中身高的多基因评分
G3 (Bethesda). 2020 Nov 5;10(11):4027-4036. doi: 10.1534/g3.120.401658.
8
Genetic Causation in Complex Regulatory Systems: An Integrative Dynamic Perspective.复杂调控系统中的遗传因果关系:一种综合动态视角
Bioessays. 2020 Jun;42(6):e1900226. doi: 10.1002/bies.201900226.
9
Variable prediction accuracy of polygenic scores within an ancestry group.群体内多基因评分的预测准确性存在差异。
Elife. 2020 Jan 30;9:e48376. doi: 10.7554/eLife.48376.
10
Predicting educational achievement from genomic measures and socioeconomic status.从基因组测量和社会经济地位预测教育成就。
Dev Sci. 2020 May;23(3):e12925. doi: 10.1111/desc.12925. Epub 2019 Dec 18.