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Updated: Jul 9, 2025

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
Published on: January 16, 2019
Gene association analysis of an osteopontin polymorphism and ketosis resistance in dairy cattle
Edyta A Bauer1, Dominika Kułaj2, Sebastian Sawicki2
1Department of Animal Reproduction, Anatomy and Genomics, Faculty of Animal Science, University of Agriculture in Krakow, Al. Mickiewicza 24/28, 30-059, Krakow, Poland. e.bauer@urk.edu.pl.
Abstract:
The aim of this study was to identify the c.495C > T polymorphism within exon 1 of the osteopontin gene (OPN), and to analyze its association with susceptibility to ketosis in Polish Holstein-Friesian (HF) cows. The study utilized blood samples from 977 HF cows, for the determination of β-hydroxybutyric acid (BHB) and for DNA isolation. The c.495C > T polymorphism of the bovine osteopontin gene was determined by PCR-RFLP. The CT genotype (0.50) was deemed the most common, while TT (0.08) was the rarest genotype. Cows with ketosis most often had the CC genotype, while cows with the TT genotype had the lowest incidence of ketosis. To confirm the relationship between the genotype and ketosis in cows, a weight of evidence (WoE) was generated. A very strong effect of the TT genotype on resistance to ketosis was demonstrated. The distribution of the ROC curve shows that the probability of resistance to ketosis is > 75% if cows have the TT genotype of the OPN gene (cutoff value is 0.758). Results suggest that TT genotype at the c.495C > T locus of the OPN gene might be effective way to detect the cows with risk of ketosis.
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