Association of TLR4 and CARD15/NOD2 polymorphisms with SCC in Holstein–Friesian cattle

Abstract. Mastitis is one of the most important dairy cattle diseases which results in economic losses in dairy production. Mastitis cases can be classified as subclinical or clinical. All forms of mastitis lead to changes in milk composition and induce an increase in somatic cell count (SCC). SCC is a very important and basic indicator of udder health. An increase in SCC is usually caused by the immune response to the invasion of pathogens contributing to mastitis. The aim of this study was to investigate associations between the polymorphisms of selected genes (TLR4 and CARD15/NOD2) whose products are involved in the identification of pathogen-associated molecular patterns (PAMPs) during the innate immune response to infection, and immunity to mastitis expressed as SCC. The genes under study were also examined for epistatic effects as well as effects of interactions with parity and stages of lactation. In all the studied classes, allele G of TLR4 had a favourable additive effect with negative values, contributing to a lower lnSCC. Allele A of CARD15/NOD2 had a desirable additive effect which varied with time and the changing internal environment during lactation. With regard to the dominance effect, allele A of CARD15/NOD2 was found to be significantly associated with a higher SCC in milk in the first lactation and in the third stage of each single lactation. Moreover, statistically significant epistatic effects were found, in particular additive–additive and dominance–additive interactions were favourably associated with SCC which was lower than expected in the case of no epistasis.