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Updated: Nov 8, 2025

An Allele-specific Gene Expression Assay to Test the Functional Basis of Genetic Associations
Published on: November 3, 2010
Somatic cell score: gene polymorphisms and other effects in Holstein and Simmental cows
Jindřich Čítek1, Michaela Brzáková2, Lenka Hanusová1
1Faculty of Agriculture, South Bohemia University, CZ37005 Ceske Budejovice, Czech Republic.
Objective:
The aim of the study was to evaluate the influence of gene polymorphisms and nongenetic factors on the somatic cell score (SCS) in the milk of Holstein (n = 148) and Simmental (n = 73) cows and their crosses (n = 6).
Methods:
The SCS was calculated by the formula SCS = log2(SCC/100,000)+3, where SCC is the somatic cell count. Polymorphisms in the casein alpha S1 (CSN1S1), beta-casein (CSN2), kappa-casein (CSN3), beta-lactoglobulin (LGB), acyl-CoA diacylglycerol transferase 1 (DGAT1), leptin (LEP), fatty acid synthase (FASN), stearoyl CoA desaturase 1 (SCD1), and 1-acylglycerol-3-phosphate O-acyltransferase 6 (AGPAT6) genes were genotyped, and association analysis to the SCS in the cow's milk was performed. Further, the impact of breed, farm, year, month of the year, lactation stage and parity on the SCS were analysed. Phenotype correlations among SCS and milk constituents were computed by Pearson correlation coefficients.
Results:
Only CSN2 genotypes A1/A2 were found to have significant association with the SCS (p<0.05), and alleles of CSN1S1 and DGAT1 genes (p<0.05). Other polymorphisms were not found to be significant. SCS had significant association with the combined effect of farm and year, lactation stage and month of the year. Lactation parity and breed had not significant association with SCS. The phenotypic correlation of SCS to lactose content was negative and significant, while the correlation to protein content was positive and significant. The correlations of SCS to fat, casein, nonfat solids, urea, citric acid, acetone and ketones contents were very low and not significant.
Conclusion:
Only CSN2 genotypes, CSN1S1 and DGAT1 alleles did show an obvious association to the SCS. The results confirmed the importance of general quality management of farms on the microbial milk quality, and effects of lactation stage and month of the year. The lactose content in milk reflects the health status of the udder.
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