Assessing the relationship between the in silico predicted consequences of 97 missense mutations mapping to 68 genes related to lipid metabolism and their association with porcine fatness traits

Rayner González-Prendes*, Martijn F.L. Derks, Martien A.M. Groenen, Raquel Quintanilla, Marcel Amills

*Corresponding author for this work

Research output: Contribution to journalArticleResearchpeer-review

Abstract

In general, the relationship between the predicted functional consequences of missense mutations mapping to genes known to be involved in human diseases and the severity of disease manifestations is weak. In this study, we tested in pigs whether missense single nucleotide polymorphisms (SNPs), predicted to have consequences on the function of genes related to lipid metabolism are associated with lipid phenotypes. Association analysis demonstrated that nine out of 72 nominally associated SNPs were classified as “highly” or “very highly consistent” in silico-predicted functional mutations and did not show association with lipid traits expected to be affected by inactivation of the corresponding gene. Although the lack of endophenotypes and the limited sample size of certain genotypic classes might have limited to some extent the reach of the current study, our data indicate that present-day bioinformatic tools have a modest ability to predict the impact of missense mutations on complex phenotypes.

Original languageEnglish
Article number110589
JournalGenomics
Volume115
Issue number2
DOIs
Publication statusPublished - Mar 2023

Keywords

  • Functional
  • Lipid
  • Missense
  • Polymorphism,pig
  • Prediction
  • Humans
  • Genotype
  • Lipids
  • Mutation, Missense
  • Phenotype
  • Animals
  • Swine
  • Lipid Metabolism/genetics
  • Polymorphism, Single Nucleotide

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