整合eQTL和GWAS数据识别潜在功能基因位点在动物遗传育种中的研究进展

doi:10.11843/j.issn.0366-6964.2025.10.001

畜牧兽医学报 ›› 2025, Vol. 56 ›› Issue (10): 4759-4773.doi: 10.11843/j.issn.0366-6964.2025.10.001

整合eQTL和GWAS数据识别潜在功能基因位点在动物遗传育种中的研究进展

曹雨¹(), 周铂涵¹, 许琦¹, 袁子翱¹, 苏蕊¹, 吕琦¹, 李金泉¹^,², 张燕军¹, 王瑞军¹, 王志英¹^,³^,*()

1. 内蒙古农业大学动物科学学院, 呼和浩特 010018
2. 农业农村部肉羊遗传育种重点实验室, 呼和浩特 010018
3. 内蒙古自治区羊遗传育种与繁殖重点实验室, 呼和浩特 010018

收稿日期:2025-03-14 出版日期:2025-10-23 发布日期:2025-11-01
通讯作者: 王志英 E-mail:1825948624@qq.com;wzhy0321@126.com
作者简介:曹雨(2001-)，女，四川资阳人，硕士生，主要从事羊遗传资源保护与育种研究，E-mail: 1825948624@qq.com
基金资助:
2030科技创新-重大项目(2023ZD0405102)；内蒙古自治区科技计划(2023KYPT0021)；内蒙古自治区教育厅一流学科科研专项重点项目(YLXKZX-NND-007)；2024鄂尔多斯市标志性创新团队(TD20240001)；财政部和农业农村部: 国家绒毛用羊产业技术体系(CARS-39)；羊遗传资源保护与创新利用(BR251201)

Research Progress on Integrated eQTL-GWAS Data Analysis for Potential Functional Genetic Loci Identification in Animal Breeding

CAO Yu¹(), ZHOU Bohan¹, XU Qi¹, YUAN Zi'ao¹, SU Rui¹, LÜ Qi¹, LI Jinquan¹^,², ZHANG Yanjun¹, WANG Ruijun¹, WANG Zhiying¹^,³^,*()

1. College of Animal Science, Inner Mongolia Agricultural University, Hohhot 010018, China
2. Key Laboratory of Meat Sheep Genetic Breeding of the Ministry of Agriculture and Rural Affairs, Hohhot 010018, China
3. Key Laboratory of Sheep Genetic Breeding and Reproduction in Inner Mongolia Autonomous Region, Hohhot 010018, China

Received:2025-03-14 Online:2025-10-23 Published:2025-11-01
Contact: WANG Zhiying E-mail:1825948624@qq.com;wzhy0321@126.com

摘要/Abstract

摘要：

精准识别与动物经济性状显著相关的潜在功能基因位点，对提升动物个体育种效果和改良生产性能具有重要的理论与实践意义。随着组学技术的发展，整合多组学数据已成为提高基因鉴定准确性的有效策略。其中，表达数量性状基因座(expression quantitative trait locus, eQTL)分析为解析基因型与经济性状的关联机制以及基因表达的遗传调控网络提供了新的研究视角，使其成为后全基因组关联分析(post-genome-wide association studies, Post-GWAS)时代的重要研究方向。本文首先介绍了eQTL分析的基本原理与方法，然后重点探讨了整合eQTL与GWAS数据提升功能基因位点鉴定效率的策略与方法及其在重要家畜(牛、猪、鸡、羊)遗传育种方面的应用。最后归纳总结了在应用过程中存在的问题，为深入解析动物复杂性状的遗传机制提供了理论依据，同时为推进动物生物育种技术创新、助力种业振兴奠定了重要基础。

关键词: eQTL, GWAS, 功能基因位点, 动物育种

Abstract:

Accurately identifying the potential functional genetic loci that significantly associated with animal economic traits holds both theoretical and practical significance for improving individual animal breeding outcomes and enhancing production performance. With the advancement of omics technologies, integrating multi-omics information has become an effective strategy to enhance the precision of genetic locus identification. Among these, expression quantitative trait locus (eQTL) analysis provides a new research perspective for analyzing the association mechanisms between genotypes and economic traits, as well as the genetic regulatory networks of gene expression, making it an important research direction in the post-genome-wide association study (Post-GWAS) era. This paper first introduces the basic principles and methods of eQTL analysis, then focuses on strategies and approaches for integrating eQTL and GWAS data to enhance the efficiency of functional genetic loci identification, as well as its applications in the genetic breeding of important livestock (cattle, pigs, chickens and sheep). Finally, it summarizes the problems that exist in practical implementation, which provides theoretical foundations for elucidating the genetic architecture of complex traits in animals and establishes a crucial basis for advancing innovative biobreeding technologies to revitalize the livestock breeding industry.

Key words: eQTL, GWAS, functional genetic loci, animal breeding

中图分类号:

S813.3

曹雨, 周铂涵, 许琦, 袁子翱, 苏蕊, 吕琦, 李金泉, 张燕军, 王瑞军, 王志英. 整合eQTL和GWAS数据识别潜在功能基因位点在动物遗传育种中的研究进展[J]. 畜牧兽医学报, 2025, 56(10): 4759-4773.

CAO Yu, ZHOU Bohan, XU Qi, YUAN Zi'ao, SU Rui, LÜ Qi, LI Jinquan, ZHANG Yanjun, WANG Ruijun, WANG Zhiying. Research Progress on Integrated eQTL-GWAS Data Analysis for Potential Functional Genetic Loci Identification in Animal Breeding[J]. Acta Veterinaria et Zootechnica Sinica, 2025, 56(10): 4759-4773.

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整合eQTL和GWAS数据识别潜在功能基因位点在动物遗传育种中的研究进展

Research Progress on Integrated eQTL-GWAS Data Analysis for Potential Functional Genetic Loci Identification in Animal Breeding

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