Human height: a model common complex trait.

IF 1.2 4区 医学 Q2 ANTHROPOLOGY Annals of Human Biology Pub Date : 2023-02-01 DOI:10.1080/03014460.2023.2215546
Mitchell Conery, Struan F A Grant
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Abstract

Context: Like other complex phenotypes, human height reflects a combination of environmental and genetic factors, but is notable for being exceptionally easy to measure. Height has therefore been commonly used to make observations later generalised to other phenotypes though the appropriateness of such generalisations is not always considered.

Objectives: We aimed to assess height's suitability as a model for other complex phenotypes and review recent advances in height genetics with regard to their implications for complex phenotypes more broadly.

Methods: We conducted a comprehensive literature search in PubMed and Google Scholar for articles relevant to the genetics of height and its comparatibility to other phenotypes.

Results: Height is broadly similar to other phenotypes apart from its high heritability and ease of measurment. Recent genome-wide association studies (GWAS) have identified over 12,000 independent signals associated with height and saturated height's common single nucleotide polymorphism based heritability of height within a subset of the genome in individuals similar to European reference populations.

Conclusions: Given the similarity of height to other complex traits, the saturation of GWAS's ability to discover additional height-associated variants signals potential limitations to the omnigenic model of complex-phenotype inheritance, indicating the likely future power of polygenic scores and risk scores, and highlights the increasing need for large-scale variant-to-gene mapping efforts.

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人类身高:一个典型的共同复杂特征。
背景:与其他复杂表型一样,人类身高反映了环境和遗传因素的结合,但值得注意的是,它非常容易测量。因此,身高通常被用来进行观察,后来被推广到其他表型,尽管这种推广的适当性并不总是被考虑在内。目的:我们旨在评估身高作为其他复杂表型模型的适用性,并综述身高遗传学的最新进展及其对更广泛复杂表型的影响。方法:我们在PubMed和Google Scholar上进行了全面的文献检索,寻找与身高遗传学及其与其他表型的可比性相关的文章。结果:身高除了遗传力高和易于测量外,与其他表型大致相似。最近的全基因组关联研究(GWAS)已经确定了12000多个与身高和饱和身高相关的独立信号,在与欧洲参考人群相似的个体的基因组亚群中,基于单核苷酸多态性的身高遗传力是常见的。结论:考虑到身高与其他复杂性状的相似性,GWAS发现额外身高相关变异的能力饱和,标志着复杂表型遗传的全基因模型的潜在局限性,表明多基因评分和风险评分可能在未来发挥作用,并突出了对大规模变异到基因图谱工作的日益需要。
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来源期刊
Annals of Human Biology
Annals of Human Biology 生物-公共卫生、环境卫生与职业卫生
CiteScore
3.40
自引率
5.90%
发文量
46
审稿时长
1 months
期刊介绍: Annals of Human Biology is an international, peer-reviewed journal published six times a year in electronic format. The journal reports investigations on the nature, development and causes of human variation, embracing the disciplines of human growth and development, human genetics, physical and biological anthropology, demography, environmental physiology, ecology, epidemiology and global health and ageing research.
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