Association of polymorphism in the alpha-1-antitrypsin gene with milk production traits in Holstein dairy cows

Abstract

Alpha-1-antitrypsin (A1AT) as a strong protease inhibitor plays a major role in the protection of tissues against proteolytic destruction by neutrophil elastase. Existence of this protein in the mammary gland may increase the survival of milk proteins such as lactoferrin and lysozyme. The biological role of A1AT in tissues such as the mammary gland and results from previous quantitative trait loci (QTL) studies have provoked an investigation of A1AT as a candidate gene influencing milk production traits. The present study assessed the association of a single nucleotide polymorphism (SNP) at position 5504 of the A1AT gene with 305-day milk yield, milk fat and protein percentage and somatic cell score (SCS) in 408 Iranian Holstein cows. The polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) technique was used for genotyping. The effect of the genotype on the traits of interest was analysed using the general linear models (GLM) procedure of SAS software. The frequencies of alleles A and B were 0.633 and 0.367, respectively, and genotypes showed a significant deviation from Hardy-Weinberg equilibrium, which can be a result of selection for milk production traits. Results of association analysis showed a significant relationship between the SNP in the A1AT gene, and fat and protein percentage. Cows of genotype AB had higher milk fat percentage than those of genotype AA. Cows with genotype AA showed a lower milk protein percentage than those carrying genotype AB. When the association of this polymorphism with fat and protein percentage is considered, the SNP could be implemented as a marker in breeding programmes for these traits. ______________________________________________________________________________________

Two single nucleotide polymorphisms sites in α1-AT gene and their association with somatic cell score in Chinese Holstein cows

“…In the present study, two mutations of G5503A and G5746C in α1 - AT gene were detected in Chinese Holstein cows, which were consistent with the mutations at 164 and 407 bp in its mRNA, while the mutations at 269, 284 and 989 bp were not detected. The two mutations in this study caused no amino acid change, similar to studies made by other authors [ 6 , 10 ]. It should be noted that, although SNPs in α1 - AT gene were not functional mutations, they were possibly in linkage disequilibrium with a certain functional polymorphic site in the α1 - AT gene or other closely linked gene(s) influencing milk-related traits [ 6 , 7 ].…”

“…The two mutations in this study caused no amino acid change, similar to studies made by other authors [ 6 , 10 ]. It should be noted that, although SNPs in α1 - AT gene were not functional mutations, they were possibly in linkage disequilibrium with a certain functional polymorphic site in the α1 - AT gene or other closely linked gene(s) influencing milk-related traits [ 6 , 7 ].…”

“…The α1-AT protein in bovine milk may inhibit the hydrolysis of trypsin on lactoferrin [ 4 , 5 ]. Heihavand-Kheiripour et al [ 6 ] suggested that α1-AT protein may affect the susceptibility of mastitis in dairy cattle for its possible role in the protection of lactoferrin from proteolytic degradation in the mammary.…”