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Clinical mastitis (CM) is one of the health disorders with large impacts on dairy farming profitability and animal welfare. The objective of this study was to perform a genome-wide association study (GWAS) for CM in first-lactation Holstein. Producer-recorded mastitis event information for 103,585 first-lactation cows were used, together with genotype information on 1,361 bulls from the Illumina BovineSNP50 BeadChip. Single-step genomic-BLUP methodology was used to incorporate genomic data into a threshold-liability model. Association analysis confirmed that CM follows a highly polygenic mode of inheritance. However, 10-adjacent-SNP windows showed that regions on chromosomes 2, 14 and 20 have impacts on genetic variation for CM. Some of the genes located on chromosome 14 ( LY6K ,  LY6D ,  LYNX1 ,  LYPD2 ,  SLURP1 ,  PSCA ) are part of the lymphocyte-antigen-6 complex ( LY6 ) known for its neutrophil regulation function linked to the major histocompatibility complex. Other genes on chromosome 2 were also involved in regulating immune response ( IFIH1 ,  LY75 , and  DPP4 ), or are themselves regulated in the presence of specific pathogens ( ITGB6 ,  NR4A2 ). Other genes annotated on chromosome 20 are involved in mammary gland metabolism ( GHR ,  OXCT1 ), antibody production and phagocytosis of bacterial cells ( C6 ,  C7 ,  C9 ,  C1QTNF3 ), tumor suppression ( DAB2 ), involution of mammary epithelium ( OSMR ) and cytokine regulation ( PRLR ). DAVID enrichment analysis revealed 5 KEGG pathways. The JAK-STAT signaling pathway (cell proliferation and apoptosis) and the ‘Cytokine-cytokine receptor interaction’ (cytokine and interleukines response to infectious agents) are co-regulated and linked to the ‘ABC transporters’ pathway also found here. Gene network analysis performed using GeneMania revealed a co-expression network where 665 interactions existed among 145 of the genes reported above. Clinical mastitis is a complex trait and the different genes regulating immune response are known to be pathogen-specific. Despite the lack of information in this study, candidate QTL for CM were identified in the US Holstein population.

plos one

A Genome-Wide Association Study for Clinical Mastitis in First Parity US Holstein Cows Using Single-Step Approach and Genomic Matrix Re-Weighting Procedure