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Integrating large-scale meta-GWAS and PigGTEx resources to decipher the genetic basis of 232 complex traits in pigs

Title: Integrating large-scale meta-GWAS and PigGTEx resources to decipher the genetic basis of 232 complex traits in pigs
Authors: Xu, Zhiting; Lin, Qing; Cai, Xiaodian; Zhong, Zhanming; Teng, Jinyan; Li, Bingjie; Zeng, Haonan; Gao, Yahui; Cai, Zexi; Wang, Xiaoqing; Shi, Liangyu; Wang, Xue; Wang, Yi; Zhang, Zipeng; Lin, Yu; Liu, Shuliang; Yin, Hongwei; Bai, Zhonghao; Wei, Chen; Zhou, Jun; Zhang, Wenjing; Zhang, Xiaoke; Shi, Shaolei; Wu, Jun; Diao, Shuqi; Liu, Yuqiang; Pan, Xiangchun; Feng, Xueyan; Liu, Ruiqi; Su, Zhanqin; Chang, Chengjie; Zhu, Qianghui; Wu, Yuwei; Zhou, Zhongyin; Bai, Lijing; Li, Kui; Wang, Qishan; Pan, Yuchun; Xu, Zhong; Peng, Xianwen; Mei, Shuqi; Mo, Delin; Liu, Xiaohong; Zhang, Hao; Yuan, Xiaolong; Liu, Yang; Liu, George E.; Su, Guosheng; Sahana, Goutam; Sandø Lund, Mogens; Ma, Li; Xiang, Ruidong; Shen, Xia; Li, Pinghua; Huang, Ruihua; Ballester Devis, Maria; Crespo-Piazuelo, Daniel; Amills i Eras, Marcel; Clop, Alex; Karlskov-Mortensen, Peter; Fredholm, Merete; Tang, Guoqing; Li, Mingzhou; Li, Xuewei; Ding, Xiangdong; Li, Jiaqi; Chen, Yaosheng; Zhang, Qin; Zhao, Yunxiang; Zhao, Fuping; Fang, Lingzhao; Zhang, Zhe
Publication Year: 2025
Collection: Universitat Autònoma de Barcelona: Dipòsit Digital de Documents de la UAB
Subject Terms: PigGTEx; Complex traits; meta-GWAS; molQTL; Pig; SDG 3 - Good Health and Well-being
Description: Understanding the molecular and cellular mechanisms underlying complex traits in pigs is crucial for enhancing genetic gain via artificial selection and utilizing pigs as models for human disease and biology. Here, we conducted comprehensive genome-wide association studies (GWAS) followed by a cross-breed meta-analysis for 232 complex traits and a within-breed meta-analysis for 12 traits, using 28.3 million imputed sequence variants in 70 328 animals across 14 pig breeds. We identified 6878 quantitative trait loci (QTL) for 139 complex traits. Leveraging the Pig Genotype-Tissue Expression resource, we systematically investigated the biological context and regulatory mechanisms behind these trait-QTLs, ultimately prioritizing 14 829 variant-gene-tissue-trait regulatory circuits. For instance, rs344053754 regulates UGT2B31 expression in the liver and intestines, potentially by modulating enhancer activity, ultimately influencing litter weight at weaning in pigs. Furthermore, we observed conservation of certain genetic and regulatory mechanisms underlying complex traits between humans and pigs. Overall, our cross-breed meta-GWAS in pigs provides invaluable resources and novel insights into the genetic regulatory and evolutionary mechanisms of complex traits in mammals.
Document Type: article in journal/newspaper
File Description: application/pdf
Language: English
ISBN: 978-0-01-481091-8; 0-01-481091-3
ISSN: 2053714X
Relation: National science review; Vol. 12, Num. 5 (2025), art. nwaf048; https://ddd.uab.cat/record/325588; urn:10.1093/nsr/nwaf048; urn:oai:ddd.uab.cat:325588; urn:pure_id:522819105; urn:wos_id:001481091300001; urn:pmid:40330097; urn:pmcid:PMC12051865; urn:scopus_id:105004546106; urn:articleid:2053714Xv12n5anwaf048; urn:oai:pubmedcentral.nih.gov:12051865
Availability: https://ddd.uab.cat/record/325588
Rights: open access ; Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, la comunicació pública de l'obra i la creació d'obres derivades, fins i tot amb finalitats comercials, sempre i quan es reconegui l'autoria de l'obra original. ; https://creativecommons.org/licenses/by/4.0/
Accession Number: edsbas.863F69DF
Database: BASE