Identification of copy number variations and candidate genes for reproduction traits in Finnish pig populations


  • Terhi Iso-Touru Natural Resources Institute Finland (Luke)
  • Pekka Uimari University of Helsinki
  • Kari Elo University of Helsinki
  • Marja-Liisa Sevon-Aimonen Natural Resources Institute Finland (Luke)
  • Anu Sironen Natural Resources Institute Finland (Luke)


swine, fertility, genetics, GWAS, CNV


Animal breeding programs can be improved by genetic markers associated with production and reproduction traits.
Reproduction traits are important for economic success of pig production and therefore development of genetic
tools for selection is of high interest to pig breeding. In this study our objective was to identify genomic regions associated
with fertility traits in two Finnish pig breeds using large scale SNP genotyping and genome wide association
analysis and characterization of copy number variations (CNV). Since CNVs are structural variations of the genome
they potentially have a large effect on gene expression and protein function. We analyzed 1265 genotyped boars
for nine different reproduction traits and identified 46 CNV regions encompassing 13 genes. 11 of the CNV regions
were shared between the breeds, 20 were unique to the Finnish Yorkshire and 15 to the Finnish Landrace. The genome
wide association (GWAS) analysis identified zero to five reproduction associated genomic regions per trait.
Furthermore, we identified 23 genomic regions with 20 candidate genes associated with fertility traits using GWAS
analysis. The identified CNV regions were compared against GWAS regions to detect candidate regions with an effect
on reproduction traits. This study reports candidate genes and genomic regions within two Finnish pig breeds
for reproduction traits, which can be utilized in breeding programs.


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How to Cite

Iso-Touru, T., Uimari, P., Elo, K., Sevon-Aimonen, M.-L., & Sironen, A. (2022). Identification of copy number variations and candidate genes for reproduction traits in Finnish pig populations. Agricultural and Food Science, 31(3), 149–159.
Received 2022-04-12
Accepted 2022-09-09
Published 2022-09-30