title: Genome-wide association study using deregressed breeding values for cryptorchidism and scrotal/inguinal hernia in two pig lines.
abstract: BACKGROUND
  Cryptorchidism and scrotal/inguinal hernia are the most frequent congenital defects in pigs. Identification of genomic regions that control these congenital defects is of great interest to breeding programs, both from an animal welfare point of view as well as for economic reasons. The aim of this genome-wide association study (GWAS) was to identify single nucleotide polymorphisms (SNPs) that are strongly associated with these congenital defects. Genotypes were available for 2570 Large White (LW) and 2272 Landrace (LR) pigs. Breeding values were estimated based on 1 359 765 purebred and crossbred male offspring, using a binary trait animal model. Estimated breeding values were deregressed (DEBV) and taken as the response variable in the GWAS.
  
  
  RESULTS
  Heritability estimates were equal to 0.26 ± 0.02 for cryptorchidism and to 0.31 ± 0.01 for scrotal/inguinal hernia. Seven and 31 distinct QTL regions were associated with cryptorchidism in the LW and LR datasets, respectively. The top SNP per region explained between 0.96% and 1.10% and between 0.48% and 2.77% of the total variance of cryptorchidism incidence in the LW and LR populations, respectively. Five distinct QTL regions associated with scrotal/inguinal hernia were detected in both LW and LR datasets. The top SNP per region explained between 1.22% and 1.60% and between 1.15% and 1.46% of the total variance of scrotal/inguinal hernia incidence in the LW and LR populations, respectively. For each trait, we identified one overlapping region between the LW and LR datasets, i.e. a region on SSC8 (Sus scrofa chromosome) between 65 and 73 Mb for cryptorchidism and a region on SSC13 between 34 and 37 Mb for scrotal/inguinal hernia.
  
  
  CONCLUSIONS
  The use of DEBV in combination with a binary trait model was a powerful approach to detect regions associated with difficult traits such as cryptorchidism and scrotal/inguinal hernia that have a low incidence and for which affected animals are generally not available for genotyping. Several novel QTL regions were detected for cryptorchidism and scrotal/inguinal hernia, and for several previously known QTL regions, the confidence interval was narrowed down.
authors.affiliation: Topigs Norsvin, PO Box 43, 6640 AA, Beuningen, the Netherlands. claudia.sevillanodelaguila@topigsnorsvin.com.|Animal Breeding and Genomics Centre, Wageningen University, PO Box 338, 6700 AH, Wageningen, the Netherlands. claudia.sevillanodelaguila@topigsnorsvin.com.
authors.forename: Claudia A
authors.initials: CA
authors.lastname: Sevillano
authors.affiliation: Topigs Norsvin, PO Box 43, 6640 AA, Beuningen, the Netherlands. marcos.lopes@topigsnorsvin.com.|Animal Breeding and Genomics Centre, Wageningen University, PO Box 338, 6700 AH, Wageningen, the Netherlands. marcos.lopes@topigsnorsvin.com.
authors.forename: Marcos S
authors.initials: MS
authors.lastname: Lopes
authors.affiliation: Topigs Norsvin, PO Box 43, 6640 AA, Beuningen, the Netherlands. barbara.harlizius@topigsnorsvin.com.
authors.forename: Barbara
authors.initials: B
authors.lastname: Harlizius
authors.affiliation: Topigs Norsvin, PO Box 43, 6640 AA, Beuningen, the Netherlands. egiel.hanenberg@topigsnorsvin.com.
authors.forename: Egiel H A T
authors.initials: EH
authors.lastname: Hanenberg
authors.affiliation: Topigs Norsvin, PO Box 43, 6640 AA, Beuningen, the Netherlands. egbert.knol@topigsnorsvin.com.
authors.forename: Egbert F
authors.initials: EF
authors.lastname: Knol
authors.affiliation: Animal Breeding and Genomics Centre, Wageningen University, PO Box 338, 6700 AH, Wageningen, the Netherlands. john.bastiaansen@wur.nl.
authors.forename: John W M
authors.initials: JW
authors.lastname: Bastiaansen
mesh_terms: D000818:Animals; D001947:Breeding; D003456:Cryptorchidism / Q000235:genetics / Q000662:veterinary*; D005260:Female; D055106:Genome-Wide Association Study / Q000379:methods*; D005838:Genotype; D006239:Haplotypes / Q000235:genetics; D006552:Hernia, Inguinal / Q000235:genetics / Q000662:veterinary*; D008297:Male; D020641:Polymorphism, Single Nucleotide; D040641:Quantitative Trait Loci; D034421:Sus scrofa / Q000235:genetics*; D013552:Swine