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
2023
González-Prendes, Rayner | Derks, Martijn F. L. | Groenen, Martien A. M. | Quintanilla, Raquel | Amills, Marcel | Ministerio de Ciencia, Innovación y Universidades (España) | Agencia Estatal de Investigación (España) | Generalitat de Catalunya | Consejo Superior de Investigaciones Científicas [https://ror.org/02gfc7t72]
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.
显示更多 [+] 显示较少 [-]Authors [...] also acknowledge the support of the Spanish Ministerio de Ciencia e Innovación for the Center of Excellence Severo Ochoa 2020-2023 (CEX2019-000902-S) grant awarded to the Centre for Research in Agricultural Genomics (CRAG, Bellaterra, Spain). Thanks also to the CERCA Programme of the Generalitat the Catalunya for their constant support.
显示更多 [+] 显示较少 [-]With funding from the Spanish government through the ‘Severo Ochoa Centre of Excellence’ accreditation (CEX2019-000902-S)
显示更多 [+] 显示较少 [-]Peer reviewed
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