CAJ | 학술논문

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。
인류신고시유배경화유전인소공동결정적，유전학연구발현유전인소대신고차이적영향경대。신고시전형적다기인유전성상，과연인원시도운용전통적련쇄분석화관련분석심조화발현대인류신고구유현저영향적상견 DNA 서렬변이，단진전완만。근년래，수착기인분형화 DNA 측서기술적발전，인류신고적유전학연구취득료흔다돌파성진전。전기인조관련분석(GWAS)적응용，발현화증실료상백개여인류신고상관적단핵감산다태성위점(SNPs)，탁전료인문대인류생장화발육적상관유전학인식，동시야위연구인류기타복잡성상제공료이론의거화차감。본문종술료인류신고적유전학연구진전，탐토료목전해연구영역소존재적문제화미래발전방향，이기위금후인류신고상관적유전학연구제공삼고화차감。
It is well known that both environmental and genetic factors contribute to adult height variation in gen-eral population. However, heritability studies have shown that the variation in height is more affected by genetic fac-tors. 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 ge-netic 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 re-search of human height and discuss problems and prospects in this research area which may provide some insights into future genetic studies of human height.