Health and production traits in bovine are associated with single nucleotide polymorphisms in the NOD2 gene.

The NOD2 gene plays a fundamental role in initiating the inflammatory and subsequent immune response. NOD2 was previously identified as a susceptibility locus for inflammatory bowel diseases in humans. In this study, we detected 2 mutations in exon 12 (A→T, G→A) among 5 cattle breeds (N = 315) and analyzed their associations with production traits and genetic resistance against bovine mastitis in Chinese Holstein and Chinese Simmental breeds (N = 218). The transitions (A→T) at position 114 bp were associated with somatic cell score (P < 0.01). The G→A at position 1594 bp plays a critical role in increasing 305-day milk yields. In Chinese Holstein and Chinese Simmental breeds, the BB genotype may contribute to disease susceptibility. Compared to all genotypic combinations, the A, B, and FF genotypes are beneficial not only for reducing somatic cell score but also for increasing production.