IBMS BoneKEy | BoneKEy Watch

GWAS in pigs confirms HMGA1 and PPARD important for height



DOI:10.1038/bonekey.2015.69

A genome wide association study (GWAS) was performed in a population of pigs derived from a cross between the Large White pig and the indigenous Chinese Minzhu pig to identify single nucleotide polymorphisms (SNPs) associated with bone length of the porcine limbs.

Thirty-nine significant SNPs on pig chromosome 7 were clustered in three haplotype blocks within an 11.93 Mb region. Varying numbers of SNPs were significantly associated with key traits: 6 (scapula length), 12 (hipbone length), 27 (ulna length), 29 (femur length), 35 (humerus length) and 39 (tibia length). Fourteen of the SNPs were located in known genes, including PPARD and HMGA1.

In GWAS carried out in humans, multiple studies have shown that HMGA2 is associated with height, birth weight, primary tooth development, infant head circumference and type 2 diabetes. PPARD, has also been associated with height in humans. The largest GWAS performed in beef cattle also confirmed HMGA1’s pleiotropy for ‘carcass traits’. The bone-length gene NCAPG identified in cattle has also been associated with human height.

Editor’s comment: Although this GWAS was in pigs its findings are highly relevant to the humans for two reasons: limb bone length influences body height and genes associated with porcine limb bone seem to have a pleiotropic effect on other osteoporosis-related traits. Genome wide studies in farm animals are catching up and provide important information relevant to humans.


Creative Commons License This work is licensed under a Creative Commons Attribution-Noncommercial-No Derivative Works 3.0 United States License.