KRT8, FAF1 and PTH1R gene polymorphisms are associated with leg weakness traits in pigs

Mol Biol Rep. 2013 Apr;40(4):2859-66. doi: 10.1007/s11033-012-2301-9. Epub 2012 Nov 30.


The liability to lesions of dysfunctions of bone and joints in pigs, summarized as leg weakness and mostly expressed as osteochondrosis, is an animal welfare and economic issue in pig production. The objective of this study was to identify polymorphisms in the functional and positional candidate genes keratin 8 (KRT8), Fas-associated factor 1 (FAF1) and parathyroid hormone type I receptor (PTH1R) and to evaluate their association with leg weakness traits. Therefore, osteochondrosis lesions were scored in animals of a Duroc × Pietrain F2 population (DuPi; n = 310) and commercial herds of the breed Large White (n = 298). In addition, bone mineralization traits were observed in DuPi population. SNPs were identified in genes KRT8 (g.8,039G > A), FAF1 (g.380,914T > C) and PTH1R (c.1,672C > T). KRT8 showed significant association with bone mineral density and content (P ≤ 0.05). FAF1 was association with OC lesions score of all joints inspected (P ≤ 0.05). PTH1R showed significant dominance effects on OC lesion scores of the distal femur articular cartilage (P = 0.01) and epiphysis of the distal ulna (P = 0.05) as well as sums of scores of all joints (OCsum, P = 0.04) and assignment to groups of either severely or gently affected animals (OCcat, P = 0.01). This study reveals clear genetic-statistical evidence for a link of KRT8, FAF1 and PTH1R with some of leg weakness related traits in pigs.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adaptor Proteins, Signal Transducing / genetics*
  • Animals
  • Foot Diseases / genetics*
  • Foot Diseases / veterinary
  • Genetic Association Studies
  • Keratin-8 / genetics*
  • Polymorphism, Single Nucleotide
  • Quantitative Trait Loci
  • Receptor, Parathyroid Hormone, Type 1 / genetics*
  • Sus scrofa
  • Swine / genetics*


  • Adaptor Proteins, Signal Transducing
  • Keratin-8
  • Receptor, Parathyroid Hormone, Type 1