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
Derks, Martijn F.L.
Groenen, Martien A.M.
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.
636 - Animal husbandry and breeding in general. Livestock rearing. Breeding of domestic animals
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González-Prendes, Rayner, Martijn F.L. Derks, Martien A.M. Groenen, Raquel Quintanilla, and Marcel Amills. 2023. "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". Genomics 115 (2): 110589. doi:10.1016/j.ygeno.2023.110589.
Grant agreement number
MICIU/Programa Estatal de generación del conocimiento y fortalecimiento científico y tecnológico del sistema I+D+I/CEX2019-000902-S/ES/ /
MINECO/Programa Estatal de I+D+I orientada a los retos de la sociedad/AGL2013-48742-C2-1-R/ES/FISIOLOGIA GENOMICA DEL DEPOSITO DE GRASA INTRAMUSCULAR EN PORCINO/
MINECO/Programa Estatal de I+D+I orientada a los retos de la sociedad/AGL2013-48742-C2-2-R/ES/FISIOLOGIA GENOMICA DEL DEPOSITO DE GRASA INTRAMUSCULAR EN PORCINO/
Genètica i Millora Animal
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