title: Genome-wide association study for calving traits in Holstein-Friesian dairy cattle.
abstract: Dystocia and perinatal mortality are quantitative traits that significantly impact animal productivity and welfare. Their economic importance is reflected by their inclusion in the national breeding goals of many cattle populations. The genetic architecture that influences these traits, however, has still yet to be thoroughly defined. Regions of the bovine genome associated with calving difficulty (direct and maternal) and perinatal mortality were detected in this study using a Bayesian approach with 43 204 single nucleotide polymorphisms (SNPs) on up to 1970 Holstein-Friesian bulls. Several SNPs on chromosomes 5, 6, 11, 12, 17,18 and 28 were detected to be strongly associated with these calving performance traits. Novel genomic regions with previously reported associations with growth, stature, birth weight and bone morphology were identified in the present study as being associated with the three calving performance traits. Morphological abnormalities are a known contributor to perinatal mortality and the most significantly associated SNP for perinatal mortality in the present study was located in a region in linkage disequilibrium with the gene SLC26A7. This gene, SLC26A7, has similarities and colocalises with SLC4A2, which has previously been associated with osteoporosis and mortality in cattle populations. The HHIP gene that is known to be associated with stature in humans was strongly associated with direct calving difficulty in the present study; large calves are known to, on average, have a greater likelihood of dystocia. A stemloop microRNA, bta-mir-1256, on chromosome 12, involved in post-transcriptional regulation of gene expression was associated with maternal calving difficulty. Previously reported quantitative trait loci associated with calving performance traits in other populations were again identified in this study; with one genomic region on chromosome 18 supporting very strong evidence of an underlying causative mutation and accounting for 2.1% of the genetic variation in direct calving difficulty. Overlapping genomic regions associated with one or more of the calving traits were also detected substantiating the known genetic covariances existing between these traits. Moreover, some genomic regions were only associated with one of the calving traits implying the selective genomic breeding programs exploiting these regions could help resolve genetic antagonisms.
authors.affiliation: 1 Smurfit Institute of Genetics, University of Dublin, Trinity College, Dublin 2, Ireland.
authors.forename: D C
authors.initials: DC
authors.lastname: Purfield
authors.affiliation: 1 Smurfit Institute of Genetics, University of Dublin, Trinity College, Dublin 2, Ireland.
authors.forename: D G
authors.initials: DG
authors.lastname: Bradley
authors.affiliation: 3 Irish Cattle Breeding Federation, Highfield House, Shinagh, Co. Cork, Ireland.
authors.forename: J F
authors.initials: JF
authors.lastname: Kearney
authors.affiliation: 2 Animal & Grassland Research and Innovation Center, Teagasc, Moorepark, Fermoy, Co. Cork, Ireland.
authors.forename: D P
authors.initials: DP
authors.lastname: Berry
mesh_terms: D000818:Animals; D002417:Cattle; D002418:Cattle Diseases / Q000235:genetics*; D002874:Chromosome Mapping / Q000662:veterinary; D003612:Dairying / Q000379:methods*; D004420:Dystocia / Q000235:genetics / Q000662:veterinary*; D005260:Female; D055106:Genome-Wide Association Study / Q000379:methods / Q000662:veterinary; D015810:Linkage Disequilibrium; D054238:Perinatal Mortality; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D011247:Pregnancy