Evidence map›Paper›PMID 40451979›Full record

ArticleJournal of applied genetics2025

Haplotypes affecting stillbirth and fertility in Icelandic Dairy Cattle.

Egill Gautason, Þórdís Þórarinsdóttir, Goutam Sahana

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Article in Journal of applied genetics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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1 · What the graph read from it

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2 · The registry

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3 · Its place in the literature

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4 · The record

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5 · Who and what money

Authors and funding

3 authors.

Egill GautasonAgricultural University of Iceland, Hvanneyri, Borgarbyggð, 311, Iceland.ORCID http://orcid.org/0000-0002-7343-0314
Þórdís ÞórarinsdóttirThe Icelandic Agricultural Advisory Center, Óseyri 2, Akureyri, 603, Iceland.ORCID http://orcid.org/0000-0002-6520-3509
Goutam SahanaCenter for Quantitative Genetics and Genomics, Aarhus University, C. F. Møllers Allé 3, Aarhus, 8000, Denmark. goutam.sahana@qgg.au.dk.ORCID http://orcid.org/0000-0001-7608-7577

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

In the last decades, the rate of stillbirths in the Icelandic Dairy Cattle population has increased. Some of these stillbirths may be caused by recessive lethal mutations segregating in the population. These alleles can be identified by detecting homozygous haplotype deficiency (HHD) in genotyped animals. The aim of this study was to find genomic regions affecting stillbirth and fertility in the Icelandic Dairy Cattle population. We analysed genotypes from 20,557 animals with 35,481 autosomal markers. We identified HHD segments and estimated their effects on stillbirths and insemination failure, measured as non-return rates. We conducted genome-wide association studies (GWAS) for stillbirth and five fertility traits: interval from first to last inseminations, conception rate, number of inseminations, calving interval and infertility. While no GWAS association reached the genome-wide significance threshold, some of the top signals co-located with HHD haplotypes. A total of 19 haplotypes significantly either decreased fertility, or increased incidence of stillbirths, or both. Two HHD regions on BTA13: 43,577,221-59,026,521 and BTA8: 83,276,598-84,472,391 were associated with both lower fertility and higher incidence of stillbirths. We found no evidence of large structural variations in or around the HHD regions, suggesting that these signals are likely due to single loss-of-function mutation or small structural variations. Further research should focus on exploring these regions using whole genome sequence data.

Indexed as

FertilityHaplotypesStillbirthAnimalsCattleFemaleGenome-Wide Association StudyGenotypeIcelandPolymorphism, Single NucleotideCattleFertilityHomozygous haplotype deficiencyRecessive lethalStillbirth

Identifiers

PMID40451979
PMCPMC12605402

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.