Genomic wide association study (GWAS) related to body conformation traits in different goat breeds

Document Type : Research Paper

Authors

1 MSc student animal breeding and genetics, Faculty of Agriculture and Natural Resources, Arak University, Arak, Iran.

2 Assistant Professor, Department of Animal Sciences, Faculty of Agriculture and Natural Resources, Arak University, Arak, Iran.

3 Associate Professor, Department of Animal Sciences, Faculty of Agriculture and Natural Resources, Arak University, Arak, Iran.

Abstract

The present study aimed to conduct a genome wide association studies based on Gene-set enrichment analysis for identifying the loci associated with conformation traits in some goat genotyped with the Caprine 50K SNP chip. For this purpose, phenotypes records related body length, body height, pubic bone length, heart girth and chest length were obtained. Genome wide association study was performed with conformation traits using GEMMA software. Using the biomaRt2 R package the SNP were assigned to genes if they were within the genomic sequence of the gene or within a flanking region of 15 kb up- and downstream of the gene. Finally, a gene enrichment analysis was performed with the KOBAS platform from online bioinformatics databases for the assignment of the genes to functional categories. In this research, genomic region related to conformation traits on chromosomes 1, 4, 5, 6, 10, 11, 16, 17, 22 and 27 were identified. Also, genes related to body conformations traits in our study included PDE5A, WDR1, ATF3, SIPA1L1, TMTC2, CHCHD3, SHROOM2, TBPL2, ADIPOQ, ASAH1 and LRPPRC. According to pathway analysis, 18 pathways from gene ontology and biological pathways were associated with the conformation traits. The results of our research can be used to understand the genetic mechanism controlling conformation traits and considering, this study supported previous results from GWAS of conformation traits, also revealed additional regions, using these findings could potentially be useful for genetic selection in goat.

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Main Subjects


Abdalla I.M., Hui J., Nazar M., Arbab A.A.I., Xu T., Abdu S.M.N., Mao Y., Yang Z. And Lu X. 2023. Identification of Candidate Genes and Functional Pathways Associated with Body Size Traits in Chinese Holstein Cattle Based on GWAS Analysis. Animals (Basel), 13(6), 992.
Bai Y., Li J., Zhu H., Liu J., Dong S., Li L., Qu L., Chen H., Song X. and Lan X. 2021. Deletion mutation within the goat PPP3CA gene identified by GWAS significantly affects litter size. Reproduction, Fertility and Development, 33, 476–483.
Bordbar F., Jensen J., Zhu B., Wang Z., Xu L. and Chang T. 2019. Identification of muscle specific candidate genes in Simmental beef cattle using imputed next generation sequencing. PLoS ONE, 14(10), e0223671.
Bu, D., Luo, H., Huo, P., Wang, Z., Zhang, S., He, Z., Wu, Y., Zhao, Liu, L. and Guo, J. 2021. KOBAS-i: intelligent prioritization and exploratory visualization of biological functions for gene enrichment analysis. Nucleic Acids Research, 49, 317–325.
Clancey, E., Kiser, J. N., Moraes, J. G. N., Dalton, J. C., Spencer, T. E. and Neibergs, H. L. 2019. Genome-wide association analysis and gene set enrichment analysis with SNP data identify genes associated with 305-day milk yield in Holstein dairy cows. Animal Genetics, (3), 254-258.
Chuluun-Erdene A., Sengeragchaa O., Altangerel T. A., Sanjmyatav P., Dagdan B., Battulga S., Enkhbat L., Byambasuren N., Malchinkhuu M. and Janlav M. 2020. Association of Candidate Gene Polymorphism with Metabolic Syndrome among Mongolian Subjects: A Case-Control Study. Medical Sciences (Basel), 8(3), 38.
Easa A. A., Selionova M., Aibazov M., Mamontova T., Sermyagin A., Belous A., Abdelmanova A., Deniskova T. and Zinovieva N. 2022. Identification of Genomic Regions and Candidate Genes Associated with Body Weight and Body Conformation Traits in Karachai Goats. Genes, 13, 1773.
Edgar, A. J., Birks, E. J., Yacoub, M. H. and Polak, J. M. 2001. Cloning of dexamethasone-induced transcript: A novel glucocorticoid-induced gene that is upregulated in emphysema. American Journal of Respiratory Cell and Molecular Biology, 25, 119–124.
Esmaeili-Fard, S. M., Gholizadeh, M., Hafezian, S. H. and R. Abdollahi-Arpanahi. 2021. Genome-wide association study and pathway analysis identify NTRK2 as a novel candidate gene for litter size in sheep. PLoS One, 16(1), e0244408.
Ghiasi, H. and Abdollahi-Arpanahi, R. 2021. The candidate genes and pathways affecting litter size in sheep. Small Ruminant Research, 205, 106546.
Guo J., Jiang R., Mao A., Liu G. E., Zhan S., Li L., Zhong T., Wang L., Cao J., Chen Y., Zhang G. and Zhang H. 2021. Genome-wide association study reveals 14 new SNPs and confirms two structural variants highly associated with the horned/polled phenotype in goats. BMC Genome, 22, 10.
Gu B., Sun R., Fang X., Zhang J., Zhao Z., Huang D., Zhao Y. and Zhao Y. 2022. Genome-Wide Association Study of Body Conformation Traits by Whole Genome Sequencing in Dazu Black Goats. Animals, 12, 548.
Hinrichs, A. L., Larkin, E. K. and Suarez, B. K. 2009. Population Stratification and Patterns of Linkage Disequilibrium. Genetic Epidemiology, 33, 88-92.
Johnston, S. E., McEwan, J. C., Pickering, N. K., Kijas, J. W., Beraldi, D., Pilkington, J. G., Pemberton, J. M. and J. Slate. 2011. Genome-wide association mapping identifies the genetic basis of discrete and quantitative variation in sexual weaponry in a wild sheep population. Molecular Ecology, 20, 2555–2566.
Jiang J., Cole J. B., Freebern E., Da Y., VanRaden P. M. and Ma L. 2019. Functional annotation and Bayesian fine-mapping reveals candidate genes for important agronomic traits in Holstein bulls. Communications Biology, 2, 212
Le T. H., Christensen O. F., Nielsen B. and Sahana G. 2017. Genome-wide association study for conformation traits in three Danish pig breeds. Genetic Selection Evolution, 49(1), 12. 
Luigi-Sierra M. G., Landi V., Guan D., Delgado J. V., Castelló A., Cabrera B., Mármol-Sánchez E., Alvarez J. F., Gómez-Carpio M., Martínez A., Such X., Jordana J. and Amills M. 2020. A genome-wide association analysis for body, udder, and leg conformation traits recorded in Murciano-Granadina goats. Journal of Dairy Science, 103(12), 11605-11617.
Marjanovic, J. and Calus, M. P. L. 2020. Factors affecting accuracy of estimated effective number of chromosome segments for numerically small breeds. Journal of Animal Breeding and Genetics 138, 151-160.  
Martin P. M., Palhière I., Ricard A., Tosser-Klopp G. and Rupp R. 2016. Genome Wide Association Study Identifies New Loci Associated with Undesired Coat Color Phenotypes in Saanen Goats. PLoS ONE, 11, 15.
Moaeen-Ud-Din, M., Danish Muner, R. and Khan M. S. 2022. Genome wide association study identifies novel candidate genes for growth and body conformation traits in goats. Scientific Reports, 12(1), 9891.
Purcell S., Neale B., Todd-Brown K., Thomas L., Ferreira M. A., Bender D., Maller J., Sklar P., de Bakker P. I., Daly M. J. and Sham P. C. 2007. PLINK: a tool set for whole-genome association and population-based linkage analyses. American Journal of Human Genetics, 81(3), 559-75. 
Taiwo G.A., Idowu M., Denvir J., Cervantes A.P. and Ogunade I.M. 2022. Identification of Key Pathways Associated With Residual Feed Intake of Beef Cattle Based on Whole Blood Transcriptome Data Analyzed Using Gene Set Enrichment Analysis. Frontiers in Veterinary Science, 9, 848027.
Tilahun Y., Gipson T. A., Alexander T., McCallum M. L. and Hoyt P. R. 2020. Genome-Wide Association Study towards Genomic Predictive Power for High Production and Quality of Milk in American Alpine Goats. International Journal of Genome, 1, 12.
Wang, L, Jia, P. and Wolfinger, R. D. 2011. Gene set analysis of genome-wide association studies: Methodological issues and perspectives. Genomics 98, 1–8.
Yang B. G., Yuan Y., Zhou D. K., Ma Y. H., Mahrous K. F., Wang S. Z., He Y. M., Duan X. H. and Zhang G. 2021. Genome-wide selection signal analysis of Australian Boer goat reveals artificial selection imprinting on candidate genes related to muscle development. Animal Genetics, 52, 550–555.
Zhang, L., Wang, F., Gao, G., Yan, X., Liu, H., Liu, Z., Wang, Z., He, L., Lv, Q., Wang, Z., Wang, R., Zhang, Y., Li, J. and Su R. 2021. Genome-Wide Association Study of Body Weight Traits in Inner Mongolia Cashmere Goats. Frontiers Veterinary Science, 8, 752746.  
Zhou, X. and Stephens, M. 2012. Genome-wide efficient mixed-model analysis for association studies. Nature Genetics, 44, 821.