Association between melanocortin 4 receptor (MC4R) gene haplotypes and carcass and production traits in Italian Large White pigs evaluated with a selective genotyping approach

Melanocortin 4 receptor (MC4R) plays a key role in controlling energy homeostasis. Several studies have already reported effects on production traits of polymorphisms identified in the porcine MC4R gene. In this study we analysed data on 6 MC4R polymorphisms (c.-780C>G; c.-135C>T; c.175C>T; c.707G>A or p.Arg236His; and c.892G>A or p.Asp298Asn; c.⁎430A>T) genotyped from (1) two groups of Italian Large White pigs (280+280 animals) with extreme estimated breeding values (EBVs) for back fat thickness (BFT), selected among a performance tested population of about 12,000 pigs, and from (2) 19 Italian Duroc pigs. Two haplotypes, differentiated by the c.892G>A, were identified in the Duroc populations. Four haplotypes were identified in the Italian Large White population, one of which (haplotype 4) was identified for the first time in this study. Single marker and haplotype association analyses for BFT were obtained by comparing allele and haplotype frequency differences from the two extreme tails using χ2 and Cochran–Armitage trend tests. Results confirmed the effects of the c.892G>A single nucleotide polymorphism (SNP) on BFT, as also defined by different distributions in the two tails of haplotypes carrying the alternative nucleotides at this polymorphic site (P<0.01). In addition different distributions of haplotype 4 in the two extreme groups suggested that it might affect the same trait (P<0.10). Association analyses for several other traits (average daily gain, ADG; feed gain ratio, FGR; weight of lean cuts; ham weight) were carried out by using EBVs and Random Residuals: significant effects (P<0.05) were only found for the p.Asp298Asn mutation on ADG and FGR. Results did not support any relevant effect of the p.Arg236His mutation on any trait. Data reported in this study contribute to better understand the role of MC4R variants in affecting production traits in pigs, a prerequisite to consider polymorphisms in this gene for marker assisted selection.