DCAT1 p.K232A polymorphism in dairy and dual purpose Italian cattle breeds

The aim of this study was to evaluate the allele frequency distribution at the DGAT1 p.K232A polymorphic site in seven Italian dairy and dual purpose cattle breeds. On the whole, 651 animals belonging to Italian Holstein (116), Italian Brown (105), Italian Simmental (95), Valdostana Red Pied (95), Rendena (62), Reggiana (128) and Modenese (50) breeds were genotyped by PCR-RFLP. Sequencing was carried out to confirm results of the genotyping protocol. The DGAT1 p.232K allele was identified in Italian Holstein (25.4%), Reggiana (17.2%), and with very low frequency in Italian Simmental, Valdostana Red Pied and Rendena (<1%). In Italian Brown and Modenese, this allele was not detected. These results indicated that this polymorphic site can be considered for association studies only in Italian Holstein and Reggiana breeds. Deviation from Hardy-Weinberg equilibrium was observed in the Reggiana breed (P<0.01) in which there was an excess of heterozygous sires and absence of animals with the p.232KK genotype. This result should be further evaluated because the analysed sires represented almost all bulls available for artificial insemination in this breed. Comparison of allele frequencies at the DGAT1 locus with several other Holstein populations showed a wide range of variability, probably due to different selection strategies adopted.