文献检索文档翻译深度研究
Suppr Zotero 插件Zotero 插件
邀请有礼套餐&价格历史记录

新学期,新优惠

限时优惠:9月1日-9月22日

30天高级会员仅需29元

1天体验卡首发特惠仅需5.99元

了解详情
不再提醒
插件&应用
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
高级版
套餐订阅购买积分包
AI 工具
文献检索文档翻译深度研究
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 @ 2025

常见的单核苷酸多态性解释了人类身高遗传的很大一部分。

Common SNPs explain a large proportion of the heritability for human height.

机构信息

Queensland Institute of Medical Research, Brisbane, Queensland, Australia.

出版信息

Nat Genet. 2010 Jul;42(7):565-9. doi: 10.1038/ng.608. Epub 2010 Jun 20.


DOI:10.1038/ng.608
PMID:20562875
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3232052/
Abstract

SNPs discovered by genome-wide association studies (GWASs) account for only a small fraction of the genetic variation of complex traits in human populations. Where is the remaining heritability? We estimated the proportion of variance for human height explained by 294,831 SNPs genotyped on 3,925 unrelated individuals using a linear model analysis, and validated the estimation method with simulations based on the observed genotype data. We show that 45% of variance can be explained by considering all SNPs simultaneously. Thus, most of the heritability is not missing but has not previously been detected because the individual effects are too small to pass stringent significance tests. We provide evidence that the remaining heritability is due to incomplete linkage disequilibrium between causal variants and genotyped SNPs, exacerbated by causal variants having lower minor allele frequency than the SNPs explored to date.

摘要

全基因组关联研究 (GWAS) 发现的单核苷酸多态性 (SNP) 仅占人类群体中复杂性状遗传变异的一小部分。其余的遗传率在哪里?我们使用线性模型分析,对 3925 名无亲缘关系个体中 294831 个 SNP 的基因型进行了分析,估计了人类身高的方差比例,并基于观察到的基因型数据进行了模拟验证。我们表明,同时考虑所有 SNP 可以解释 45%的方差。因此,大部分遗传率并没有缺失,只是以前没有被检测到,因为个体效应太小,无法通过严格的显著性检验。我们提供的证据表明,剩余的遗传率是由于因果变异与已检测 SNP 之间不完全连锁不平衡所致,这是由因果变异的次要等位基因频率低于迄今为止探索的 SNP 所加剧的。

相似文献

[1]
Common SNPs explain a large proportion of the heritability for human height.

Nat Genet. 2010-6-20

[2]
Methodological Considerations in Estimation of Phenotype Heritability Using Genome-Wide SNP Data, Illustrated by an Analysis of the Heritability of Height in a Large Sample of African Ancestry Adults.

PLoS One. 2015-6-30

[3]
A commentary on 'common SNPs explain a large proportion of the heritability for human height' by Yang et al. (2010).

Twin Res Hum Genet. 2010-12

[4]
Analysis of the genetic architecture of susceptibility to cervical cancer indicates that common SNPs explain a large proportion of the heritability.

Carcinogenesis. 2015-9

[5]
Hints of hidden heritability in GWAS.

Nat Genet. 2010-7

[6]
Ubiquitous polygenicity of human complex traits: genome-wide analysis of 49 traits in Koreans.

PLoS Genet. 2013-3-7

[7]
Estimation and partition of heritability in human populations using whole-genome analysis methods.

Annu Rev Genet. 2013-8-22

[8]
Genome-wide compound heterozygote analysis highlights alleles associated with adult height in Europeans.

Hum Genet. 2017-11

[9]
Assessing the contribution of rare variants to complex trait heritability from whole-genome sequence data.

Nat Genet. 2022-3

[10]
Estimation and partitioning of polygenic variation captured by common SNPs for Alzheimer's disease, multiple sclerosis and endometriosis.

Hum Mol Genet. 2012-11-28

引用本文的文献

[1]
MIXED MODELING APPROACH FOR CHARACTERIZING THE GENETIC EFFECTS IN A LONGITUDINAL PHENOTYPE.

Ann Appl Stat. 2025-9

[2]
Single-variant genome-wide association study and regional heritability mapping of protein efficiency and performance traits in Large White pigs.

Genet Sel Evol. 2025-8-14

[3]
Heritability and genetic contribution analysis of structural-functional coupling in human brain.

Imaging Neurosci (Camb). 2024-10-30

[4]
The proteogenomic landscape of the human kidney and implications for cardio-kidney-metabolic health.

Nat Med. 2025-8-12

[5]
Mutations of short tandem repeats explain abundant trait heritability in Arabidopsis.

Genome Biol. 2025-8-12

[6]
Principled measures and estimates of trait polygenicity.

bioRxiv. 2025-7-15

[7]
Patterns and drivers of 43,617 mosaic chromosomal alterations in blood.

medRxiv. 2025-7-30

[8]
Estimation of Genetic Parameters for Carcass and Meat Quality Traits Using Genomic Information in Yorkshire Pigs.

Animals (Basel). 2025-7-14

[9]
Dysregulated Gene Expression: A Candidate Mechanism for Anxiety Disorders.

J Psychiatr Brain Sci. 2025

[10]
Gene-environment interactions contribute to blood pressure variation across global populations.

medRxiv. 2025-7-3

本文引用的文献

[1]
Finding the missing heritability of complex diseases.

Nature. 2009-10-8

[2]
Common polygenic variation contributes to risk of schizophrenia and bipolar disorder.

Nature. 2009-8-6

[3]
Assessing the impact of transgenerational epigenetic variation on complex traits.

PLoS Genet. 2009-6

[4]
Potential etiologic and functional implications of genome-wide association loci for human diseases and traits.

Proc Natl Acad Sci U S A. 2009-6-9

[5]
Mapping genes for complex traits in domestic animals and their use in breeding programmes.

Nat Rev Genet. 2009-6

[6]
Epigenetic inheritance and the missing heritability problem.

Genetics. 2009-7

[7]
Human genetic variation and its contribution to complex traits.

Nat Rev Genet. 2009-4

[8]
A fast algorithm for BayesB type of prediction of genome-wide estimates of genetic value.

Genet Sel Evol. 2009-1-5

[9]
Geographical structure and differential natural selection among North European populations.

Genome Res. 2009-5

[10]
Increased accuracy of artificial selection by using the realized relationship matrix.

Genet Res (Camb). 2009-2

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

推荐工具

医学文档翻译智能文献检索