Mastitis is the most frequent and costly disease in dairy production and solutions leading to a reduction in the incidence of mastitis are highly demanded. Here a genome-wide association study was performed to identify polymorphisms affecting susceptibility to mastitis. Genotypes for 17 349 SNPs distributed across the 29 bovine autosomal chromosomes from a total of 2589 sires with 1 389 776 daughters with records on clinical mastitis were included in the analysis. Records of occurrence of clinical mastitis were divided into seven time periods in the first three lactations in order to identify quantitative trait loci affecting mastitis susceptibility in particular phases of lactation. The most convincing results from the association mapping were followed up and validated by a combined linkage disequilibrium and linkage analysis. The study revealed quantitative trait loci affecting occurrence of clinical mastitis in the periparturient period on chromosomes 2, 6 and 20 and a quantitative trait locus affecting occurrence of clinical mastitis in late lactation on chromosome 14. None of the quantitative trait loci for clinical mastitis detected in the study seemed to affect lactation average of somatic cell score. The SNPs highly associated with clinical mastitis lie near both the gene encoding interleukin 8 on chromosome 6 and the genes encoding the two interleukin 8 receptors on chromosome 2.

Combined linkage and linkage disequilibrium analysis were used to refine the position of a previously detected QTL affecting milk production traits on bovine chromosome 6. Through a series of single- and multitrait and single- and multipoint QTL analyses, the QTL could be positioned to a 7.5-cM interval surrounded by the markers BMS2508 and FBN12. The most significant results were found for fat percentage and protein percentage. This effect seemed to be caused by a QTL allele embedded in one specific marker haplotype that caused a reduction in fat and protein yields and a concomitant increase of milk yield, thus resulting in a marked reduction of fat and protein percentages.

Toll-like receptors (TLR) are important cell-surface molecules mediating immune responses. Previous studies have identified TLR2 and TLR4 as potential candidate genes for disease resistance. In this study, dense linkage maps comprising single nucleotide polymorphisms (SNPs) have been constructed for the chromosomal regions harbouring TLR2 and TLR4 on bovine chromosome 17 and 8. The most likely marker orders for both regions were compared with the corresponding human map positions and used to reorder bovine scaffolds available from the bovine genome sequence assembly (Btau_3.1). A combined linkage and linkage disequilibrium method was used to investigate possible associations between the TLR genes and mastitis susceptibility recorded in the Norwegian Red cattle population. The analysis did not detect any significant association between the chromosomal regions surrounding TLR2 and TLR4 and mastitis in Norwegian Red cattle.