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An association analysis between a missense polymorphism at the pig PCSK9 gene and serum lipid and meat quality traits in Duroc pigs

Chański, Wojciech, González-Prendes, Rayner, Castelló, Anna, Jordana, Jordi, Manunza, Arianna, Quintanilla, Raquel, Amills, Marcel
Livestock science 2016 v.190 pp. 27-30
Duroc, blood lipids, blood serum, cholesterol, chromosomes, computer software, genes, genome-wide association study, genotype, genotyping, lipid content, long chain fatty acids, low density lipoprotein, meat quality, muscles, mutation, palmitates, quantitative trait loci, sequence analysis, swine, triacylglycerols, very low density lipoprotein
A genome-wide association analysis in a Duroc pig population allowed us detecting a genomic region on pig chromosome 6 (141–147Mb) that was associated with serum cholesterol (CHOL), triglyceride (TRIG) and low-density lipoprotein (LDL) concentrations. This region contains the proprotein convertase subtilisin-like kexin type 9 (PCSK9) gene (SSC6, 145Mb), which has a key role in the regulation of CD36, LDL receptor and very low density lipoprotein (VLDL) receptor levels. In the current work, we have genotyped by pyrosequencing a missense PCSK9 c.1222G>A mutation (E408K) in 273 Duroc pigs. The performance of an association analysis with the GEMMA software did not reveal any association between PCSK9 genotype and serum lipid concentrations, evidencing that this polymorphism is not the causal mutation of the CHOL, TRIG, and LDL SSC6 QTL. However, we detected an association, that was highly significant at the nominal level, between PCSK9 genotype and palmitelaidic content at the gluteus medius muscle (P-value = 0.008). There is evidence that PCSK9 induces the degradation of CD36, a key long-chain fatty acid transporter, and that it may decrease the uptake of palmitate. However, the E408K polymorphism analysed in the current work is not predicted to be deleterious, suggesting that the associations found are probably due to the linkage of this polymorphism with a causal mutation yet to be found.