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ARS Home » Plains Area » Clay Center, Nebraska » U.S. Meat Animal Research Center » Genetics and Animal Breeding » Research » Publications at this Location » Publication #405176
Research Project: Genomes to Phenomes in Beef Cattle Research

Location: Genetics and Animal Breeding

Title: Integrating genome-wide association and expression quantitative trait loci (eQTL) analyses identifies genes affecting fertility in cattle and suggests a common set of genes regulating fertility in mammals

Author
item FORUTAN, MEHRNUSH - University Of Queensland
item Engle, Bailey
item CHAMBERLAIN, AMANDA - Agriculture Victoria
item ROSS, ELIZABETH - University Of Queensland
item NGUYEN, LOAN - University Of Queensland
item D'OCCHIO, MICHAEL - University Of Sydney
item COLLINS SR, ALF - Collins Belah Valley Brahman Stud
item KHO, ELISE - University Of Queensland
item FORDYCE, GEOFFRY - University Of Queensland
item SPEIGHT, SHANNON - University Of Queensland
item GODDARD, MICHAEL - University Of Melbourne
item HAYES, BEN - University Of Queensland

Submitted to: Research Square
Publication Type: Pre-print Publication
Publication Acceptance Date: 5/12/2023
Publication Date: 5/12/2023
Citation: Forutan, M., Engle, B.N., Chamberlain, A.J., Ross, E.M., Nguyen, L.T., D'Occhio, M., Collins Sr, A., Kho, E.A., Fordyce, G., Speight, S., Goddard, M.E., Hayes, B.J. 2023. Integrating genome-wide association and expression quantitative trait loci (eQTL) analyses identifies genes affecting fertility in cattle and suggests a common set of genes regulating fertility in mammals. Research Square. Article 283935. https://doi.org/10.21203/rs.3.rs-2839305/v1.
DOI: https://doi.org/10.21203/rs.3.rs-2839305/v1

Interpretive Summary: Most genetic variation associated with fertility in mammals is found in non-coding regions of the genome and it is unclear how these genetic elements affect fertility. Here we combined and used genome-wide association (GWAS) summary statistics for heifer puberty, multi-trait GWAS findings for heifer fertility, and expression quantitative trait loci (eQTL) from whole blood to identify 87 functional genes affecting cattle fertility. Our analysis revealed a significant overlap between the set of cattle and human fertility-related genes. This finding implies the existence of a shared pool of genes that regulate fertility in mammals. These findings have important implications for the development of novel approaches to improve fertility in cattle and potentially in other mammals as well.

Technical Abstract: Most genetic variants associated with fertility in mammals fall in non-coding regions of the genome and it is unclear how these variants affect fertility. Here we used genome-wide association (GWAS) summary statistics for heifer puberty (pubertal or not at 600 days) from 27,707 cattle; multi-trait GWAS signals from 2,119 cattle for four fertility traits, including days to calving, age at first calving, heifer pregnancy status, and foetus age in weeks; and expression quantitative trait locus (eQTL) for whole blood from 489 cattle, to identify 87 putatively functional genes affecting cattle fertility. Our analysis revealed a significant overlap between the set of cattle and human fertility-related genes. This finding implies the existence of a shared pool of genes that regulate fertility in mammals. These findings have important implications for the development of novel approaches to improve fertility in cattle and potentially in other mammals as well.