Bayesian fine-mapping and Mendelian randomization leveraging expression quantitative trait loci reveal novel candidate causal genes for body conformation traits in cattle

ABSTRACT: Cattle body size measurements constitute the conformation traits that facilitate their production, fertility, and longevity status. Prioritizing functional variants and causal genes of conformation traits is essential for understanding their genetic basis. In this study, we conducted singl...

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Main Authors: Jun Teng, Chongwei Duan, Xinyi Zhang, Zhujun Chen, Chao Ning, Rongling Li, Yundong Gao, Hongding Gao, Huiming Liu, Jianbin Li, Xiao Wang, Qin Zhang
Format: Article
Language:English
Published: Elsevier 2025-08-01
Series:Journal of Dairy Science
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Online Access:http://www.sciencedirect.com/science/article/pii/S0022030225003649
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author Jun Teng
Chongwei Duan
Xinyi Zhang
Zhujun Chen
Chao Ning
Rongling Li
Yundong Gao
Hongding Gao
Huiming Liu
Jianbin Li
Xiao Wang
Qin Zhang
author_facet Jun Teng
Chongwei Duan
Xinyi Zhang
Zhujun Chen
Chao Ning
Rongling Li
Yundong Gao
Hongding Gao
Huiming Liu
Jianbin Li
Xiao Wang
Qin Zhang
author_sort Jun Teng
collection DOAJ
description ABSTRACT: Cattle body size measurements constitute the conformation traits that facilitate their production, fertility, and longevity status. Prioritizing functional variants and causal genes of conformation traits is essential for understanding their genetic basis. In this study, we conducted single-trait and multitrait GWAS for 20 body conformation traits using imputed sequence data in 7,674 Chinese Holstein individuals and identified 27 QTL regions. Leveraging these QTL regions, we performed multitrait Bayesian fine-mapping to identify 30 independent credible sets of putative causal variants. Incorporating GWAS and cis-acting expression QTL data, Mendelian randomization was used to infer 153 putative causal gene-trait relationships. The previously reported genes, such as CCND2, TMTC2, and NRG3, were confirmed in our study. Of note, several novel candidate causal genes were also identified, such as C1R, RIMS1, SERPINB8, NETO2, TTYH3, TTC3, ANAPC4, and PSMD13. Our results provide new insights into the regulatory mechanisms of body conformation traits in cattle.
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institution Kabale University
issn 0022-0302
language English
publishDate 2025-08-01
publisher Elsevier
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series Journal of Dairy Science
spelling doaj-art-98a3813865ba4e3582d79f9b8903044d2025-08-20T03:55:48ZengElsevierJournal of Dairy Science0022-03022025-08-0110888637864710.3168/jds.2025-26361Bayesian fine-mapping and Mendelian randomization leveraging expression quantitative trait loci reveal novel candidate causal genes for body conformation traits in cattleJun Teng0Chongwei Duan1Xinyi Zhang2Zhujun Chen3Chao Ning4Rongling Li5Yundong Gao6Hongding Gao7Huiming Liu8Jianbin Li9Xiao Wang10Qin Zhang11Shandong Provincial Key Laboratory for Livestock Germplasm Innovation and Utilization, College of Animal Science and Technology, Shandong Agricultural University, Tai'an 271018, Shandong, ChinaShandong Provincial Key Laboratory for Livestock Germplasm Innovation and Utilization, College of Animal Science and Technology, Shandong Agricultural University, Tai'an 271018, Shandong, ChinaShandong Provincial Key Laboratory for Livestock Germplasm Innovation and Utilization, College of Animal Science and Technology, Shandong Agricultural University, Tai'an 271018, Shandong, ChinaShandong Provincial Key Laboratory for Livestock Germplasm Innovation and Utilization, College of Animal Science and Technology, Shandong Agricultural University, Tai'an 271018, Shandong, ChinaShandong Provincial Key Laboratory for Livestock Germplasm Innovation and Utilization, College of Animal Science and Technology, Shandong Agricultural University, Tai'an 271018, Shandong, ChinaInstitute of Animal Science and Veterinary Medicine, Shandong Academy of Agricultural Sciences, Jinan 250100, ChinaInstitute of Animal Science and Veterinary Medicine, Shandong Academy of Agricultural Sciences, Jinan 250100, ChinaNatural Resources Institute Finland (Luke), Jokioinen 31600, FinlandCenter for Quantitative Genetics and Genomics, Aarhus University, Aarhus 8000, DenmarkInstitute of Animal Science and Veterinary Medicine, Shandong Academy of Agricultural Sciences, Jinan 250100, ChinaInstitute of Animal Science and Veterinary Medicine, Shandong Academy of Agricultural Sciences, Jinan 250100, China; Corresponding authorsShandong Provincial Key Laboratory for Livestock Germplasm Innovation and Utilization, College of Animal Science and Technology, Shandong Agricultural University, Tai'an 271018, Shandong, China; Corresponding authorsABSTRACT: Cattle body size measurements constitute the conformation traits that facilitate their production, fertility, and longevity status. Prioritizing functional variants and causal genes of conformation traits is essential for understanding their genetic basis. In this study, we conducted single-trait and multitrait GWAS for 20 body conformation traits using imputed sequence data in 7,674 Chinese Holstein individuals and identified 27 QTL regions. Leveraging these QTL regions, we performed multitrait Bayesian fine-mapping to identify 30 independent credible sets of putative causal variants. Incorporating GWAS and cis-acting expression QTL data, Mendelian randomization was used to infer 153 putative causal gene-trait relationships. The previously reported genes, such as CCND2, TMTC2, and NRG3, were confirmed in our study. Of note, several novel candidate causal genes were also identified, such as C1R, RIMS1, SERPINB8, NETO2, TTYH3, TTC3, ANAPC4, and PSMD13. Our results provide new insights into the regulatory mechanisms of body conformation traits in cattle.http://www.sciencedirect.com/science/article/pii/S0022030225003649GWASBayesian fine-mappingMendelian randomizationbody conformation traitscattle
spellingShingle Jun Teng
Chongwei Duan
Xinyi Zhang
Zhujun Chen
Chao Ning
Rongling Li
Yundong Gao
Hongding Gao
Huiming Liu
Jianbin Li
Xiao Wang
Qin Zhang
Bayesian fine-mapping and Mendelian randomization leveraging expression quantitative trait loci reveal novel candidate causal genes for body conformation traits in cattle
Journal of Dairy Science
GWAS
Bayesian fine-mapping
Mendelian randomization
body conformation traits
cattle
title Bayesian fine-mapping and Mendelian randomization leveraging expression quantitative trait loci reveal novel candidate causal genes for body conformation traits in cattle
title_full Bayesian fine-mapping and Mendelian randomization leveraging expression quantitative trait loci reveal novel candidate causal genes for body conformation traits in cattle
title_fullStr Bayesian fine-mapping and Mendelian randomization leveraging expression quantitative trait loci reveal novel candidate causal genes for body conformation traits in cattle
title_full_unstemmed Bayesian fine-mapping and Mendelian randomization leveraging expression quantitative trait loci reveal novel candidate causal genes for body conformation traits in cattle
title_short Bayesian fine-mapping and Mendelian randomization leveraging expression quantitative trait loci reveal novel candidate causal genes for body conformation traits in cattle
title_sort bayesian fine mapping and mendelian randomization leveraging expression quantitative trait loci reveal novel candidate causal genes for body conformation traits in cattle
topic GWAS
Bayesian fine-mapping
Mendelian randomization
body conformation traits
cattle
url http://www.sciencedirect.com/science/article/pii/S0022030225003649
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