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Mastitis is one of the most prevalent and costly diseases in dairy cattle. It results in changes in milk composition and quality which are indicators of udder inflammation in absence of clinical signs. We applied structural equation modeling (SEM) - GWAS aiming to explore interrelated dependency relationships among phenotypes related to udder health, including milk yield (MY), somatic cell score (SCS), lactose (%, LACT), pH and non-casein N (NCN, % of total milk N), in a cohort of 1,158 Brown Swiss cows. The phenotypic network inferred via the Hill-Climbing algorithm was used to estimate SEM parameters. Integration of multi-trait models-GWAS and SEM-GWAS identified six significant SNPs for SCS, and quantified the contribution of MY and LACT acting as mediator traits to total SNP effects. Functional analyses revealed that overrepresented pathways were often shared among traits and were consistent with biological knowledge (e.g., membrane transport activity for pH and MY or Wnt signaling for SCS and NCN). In summary, SEM-GWAS offered new insights on the relationships among udder health phenotypes and on the path of SNP effects, providing useful information for genetic improvement and management strategies in dairy cattle.

Structural equation modeling for investigating multi-trait genetic architecture of udder health in dairy cattle