The effect of polymorphism in the FADS2 gene on the fatty acid composition of bovine milk

Polyunsaturated fatty acids (PUFAs) play a role in a wide variety of physiological processes. They are produced by a series of desaturation and elongation reactions. Δ-6-desaturase is a membrane-bound enzyme that catalyzes the conversion of α-linolenic acid (C18:3n-3) and linoleic acid (C18:2n-6) to stearidonic acid (18:4n-3) and γ-linolenic acid (18:3n-6). It is encoded by the FADS2 gene located on bovine chromosome 29. The aim of this study was to identify a single nucleotide polymorphism in the FADS2 gene and to determine possible associations with milk fatty acid composition in two breeds of dairy cattle, i.e., Jersey and Polish Holstein-Friesian. Direct DNA sequencing revealed the presence of an A-to-G substitution in intron 3 of the FADS2 gene (rs209202414). Both populations were genotyped with an appropriate PCR-RFLP assay. The following genotype distributions were observed: for Jerseys, AA = 0.24, AG = 0.63, and GG = 0.13; for Polish Holstein-Friesians, AA = 0.17, AG = 0.40, and GG = 0.43. In Jerseys, statistically significant relationships were found between the FASD2 genotypes and the following milk fatty acids: lauric (P=0.0486), behenic (P=0.0199), lignoceric (P=0.0209), oleic (P=0.0386), eicosatrienoic (P=0.0113), and docosadienoic (P=0.0181). In Polish Holstein-Friesian cows, significant associations were observed for erucic (P=0.0460) and docosahexaenoic (P=0.0469) acids. The study indicated the A-to-G substitution (rs209202414) in the bovine FADS2 gene as a potential genetic marker for fatty acid composition in cattle milk.