A validated genome-wide association study in 2 dairy cattle breeds for milk production and fertility traits using variable length haplotypes.

Genome-wide association studies (GWAS) were used to discover genomic regions explaining variation in dairy production and fertility traits. Associations were detected with either single nucleotide polymorphism (SNP) markers or haplotypes of SNP alleles. An across-breed validation strategy was used to narrow the genomic interval containing causative mutations. There were 39,048 SNP tested in a discovery population of 780 Holstein sires and validated in 386 Holsteins and 364 Jersey sires. Previously identified mutations affecting milk production traits were confirmed. In addition, several novel regions were identified, including a putative quantitative trait loci for fertility on chromosome 18 that was detected only using haplotypes greater than 3 SNP long. It was found that the precision of quantitative trait loci mapping increased with haplotype length as did the number of validated haplotypes discovered, especially across breed. Promising candidate genes have been identified in several of the validated regions.