人类身高的遗传学研究进展

doi:10.16288/j.yczz.15-082

遗传 ›› 2015, Vol. 37 ›› Issue (8): 741-755.doi: 10.16288/j.yczz.15-082

人类身高的遗传学研究进展

陈开旭¹, 王为兰¹, 张富春¹, 郑秀芬^{1, 2, 3}

1. 新疆大学生命科学与技术学院,新疆生物资源基因工程重点实验室,乌鲁木齐 830046;
2. 加拿大西安大略大学病理科,伦敦,N6A5A5;
3. 加拿大劳森健康研究所,伦敦,N6A5A5

收稿日期:2015-02-13 修回日期:2015-04-20 出版日期:2015-08-20 发布日期:2015-08-20
通讯作者: 张富春,教授,博士,研究方向：分子生物学。E-mail: zfcxj@sina.com
郑秀芬,教授,博士,研究方向：群体遗传学。E-mail: zhengxf007@gmail.com
作者简介:陈开旭,在读博士研究生,研究方向：群体遗传学。E-mail: chenkaixu@126.com
基金资助:
国家自然科学基金项目(编号：31260267),新疆大学天山学者特聘教授科研项目(编号：0306407)和新疆生物资源基因工程重点实验室开放课题(编号：XJDX020-2012-040080)资助

Progress in genetic research of human height

Kaixu Chen¹, Weilan Wang¹, Fuchun Zhang¹, Xiufen Zheng^{1, 2, 3}

1. Key Laboratory of Biological Resources and Genetic Engineering, College of Life Science and Technology, Xinjiang University, Urumgi 830046, China;
2. Department of Pathology, Western University, London, N6A5A5, Canada;
3. Lawson Health Research Institute, London, N6A5A5, Canada

Received:2015-02-13 Revised:2015-04-20 Online:2015-08-20 Published:2015-08-20

摘要/Abstract

摘要： 人类身高是由环境和遗传因素共同决定的,遗传学研究发现遗传因素对身高差异的影响更大。身高是典型的多基因遗传性状,科研人员试图运用传统的连锁分析和关联分析寻找和发现对人类身高具有显著影响的常见DNA序列变异,但进展缓慢。近年来,随着基因分型和DNA测序技术的发展,人类身高的遗传学研究取得了很多突破性进展。全基因组关联分析(GWAS)的应用,发现和证实了上百个与人类身高相关的单核苷酸多态性位点(SNPs),拓展了人们对人类生长和发育的相关遗传学认识,同时也为研究人类其他复杂性状提供了理论依据和借鉴。本文综述了人类身高的遗传学研究进展,探讨了目前该研究领域所存在的问题和未来发展方向,以期为今后人类身高相关的遗传学研究提供参考和借鉴。

关键词: 人类身高, 连锁分析, 关联分析, 全基因组关联研究

Abstract: It is well known that both environmental and genetic factors contribute to adult height variation in general population. However, heritability studies have shown that the variation in height is more affected by genetic factors. Height is a typical polygenic trait which has been studied by traditional linkage analysis and association analysis to identify common DNA sequence variation associated with height, but progress has been slow. More recently, with the development of genotyping and DNA sequencing technologies, tremendous achievements have been made in genetic research of human height. Hundreds of single nucleotide polymorphisms (SNPs) associated with human height have been identified and validated with the application of genome-wide association studies (GWAS) methodology, which deepens our understanding of the genetics of human growth and development and also provides theoretic basis and reference for studying other complex human traits. In this review, we summarize recent progress in genetic research of human height and discuss problems and prospects in this research area which may provide some insights into future genetic studies of human height.

Key words: human height, linkage analysis, association analysis, genome-wide association study

陈开旭, 王为兰, 张富春, 郑秀芬. 人类身高的遗传学研究进展[J]. 遗传, 2015, 37(8): 741-755.

Kaixu Chen, Weilan Wang, Fuchun Zhang, Xiufen Zheng. Progress in genetic research of human height[J]. HEREDITAS(Beijing), 2015, 37(8): 741-755.

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人类身高的遗传学研究进展

Progress in genetic research of human height

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