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Recessive Effect of GC-NPFFR2 rs137147462 on Somatic Cell Score (Mastitis Susceptibility) in Japanese Holsteins

Yoshiyuki Akiyama,Takaaki Ando,Nobuhiro Nozaki,Mohammad Arif,Yutaro Ide,Shaohsu Wang,Naoki Miura

Published 2025 in Animals

ABSTRACT

Simple Summary Dairy cows frequently suffer from mastitis, or inflammation of the udder, and that causes major economic loss to farmers. If farmers could breed cows with better natural resistance to mastitis, they could thus achieve an important goal for sustainable milk production. In this study, we investigated data on genetics and milk from Japanese Holstein cows over a ten-year period, to see if we could identify any links in the data related to udder health. We found cows with one particular genetic variation were statistically at much greater risk of developing mastitis. This information on dairy cow genetics may help cattle breeders raise healthier, and more productive herds. Abstract We evaluated four candidate SNPs (GC-NPFFR2 rs137147462, GC-NPFFR2 rs109452259, BRCA1 rs134817801, and DGAT1 p.K232A) previously reported in relation to mastitis or milk production traits, using 10,729 test-day phenotypic records collected over 10 years from 269 Japanese Holstein cows (Bos taurus) enrolled in the national Dairy Herd Improvement (DHI) program. Linear mixed models were used to estimate genotypic effects on somatic cell score (SCS) and to test multiple inheritance models. To assess clinical relevance, mastitis severity was further analyzed using categories defined by somatic cell counts (SCC). Among the SNPs tested, GC-NPFFR2 rs137147462 showed the clearest and most consistent association with SCS under a recessive model, with GG cows exhibiting higher SCS throughout lactation. Ordinal logistic regression confirmed a higher probability of progression to severe mastitis in GG cows. DGAT1 p.K232A showed additive effects, with the A allele increasing milk yield while lowering fat and protein percentages. AA cows also showed higher SCS under a modest recessive effect. BRCA1 rs134817801 and GC-NPFFR2 rs109452259 had minimal effects. These findings support GC-NPFFR2 rs137147462 as a promising marker for mastitis resistance and indicate the importance of considering not only additive but also recessive genetic models in genomic selection strategies.

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