0000000000295254

AUTHOR

Dorota Kakol-palm

showing 2 related works from this author

PCSK9 rs11591147 R46L loss-of-function variant protects against liver damage in individuals with NAFLD

2020

Background and Aims: The proprotein convertase subtilisin/kexin type 9 (PCSK9) plays a key role in cholesterol homeostasis, and its inhibition represents an effective therapy to lower low-density lipoprotein cholesterol (LDL-C) levels. In this study, we examined the impact of the PCSK9 rs11591147 loss-of-function (LOF) variant on liver damage in a multicenter collection of patients at risk of nonalcoholic steatohepatitis (NASH), in clinical samples and experimental models. Methods: We considered 1874 consecutive individuals at risk of NASH as determined by histology. The SNP rs11591147, encoding for the p.R46L variant of PCSK9, was genotyped by TaqMan assays. We also evaluated 1) PCSK9 mRNA…

Malemedicine.medical_specialtyProprotein Convertase 9.GastroenterologyPCSK903 medical and health sciencesMice0302 clinical medicineFibrosisNon-alcoholic Fatty Liver DiseaseSettore BIO/13 - Biologia ApplicataInternal medicineNonalcoholic fatty liver diseaseMedicineSNPAnimalsHumansFIBROSISLoss functionSettore MED/12 - GastroenterologiaHepatologybusiness.industryAnimalPCSK9ConfoundingNASHCholesterol LDLProprotein convertasemedicine.diseaseLiver030220 oncology & carcinogenesisKexin030211 gastroenterology & hepatologyProprotein Convertase 9businessHuman
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<i>PCSK9</i> rs11591147 R46L Loss-of-Function Variant Protects Against Liver Damage in Individuals with NAFLD

2020

Background and Aims: The proprotein convertase subtilisin/kexin type 9 (PCSK9) plays a key role in cholesterol homeostasis, and its inhibition represents an effective therapy to lower LDL-C levels. In this study, we examined the impact of PCSK9 rs11591147 loss-of-function (LOF) variant on liver damage in a multicenter collection of patients at risk of nonalcoholic steatohepatitis (NASH), in clinical samples and experimental models. Methods: We considered 1,874 consecutive individuals at risk of NASH as determined by histology. The SNP rs11591147, encoding for the p.R46L variant of PCSK9, was genotyped by TaqMan assays. We also evaluated 1) PCSK9 mRNA hepatic expression in human liver, and 2…

medicine.medical_specialtyHuman liverbusiness.industryPCSK9Helsinki declarationFat accumulationInformed consentInternal medicineMedicinemedia_common.cataloged_instanceLiver damageEuropean unionbusinessPharmacogeneticsmedia_commonSSRN Electronic Journal
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