Real, Luis MiguelMacias, JuanRivero-Juarez, AntonioTellez, FranciscoMerino, DoloresMoreno-Grau, SoniaOrellana, AdelinaGomez-Salgado, JuanSaez, Maria EFrias, MarioCorma-Gomez, AnaïsMerchante, NicolasRuiz, AgustinCaruz, AntonioPineda, Juan A2023-01-252023-01-252019-06-04Real LM, Macías J, Rivero-Juárez A, Téllez F, Merino D, Moreno-Grau S, et al. Genetic markers of lipid metabolism genes associated with low susceptibility to HCV infection. Sci Rep. 2019 Jun 21;9(1):9054http://hdl.handle.net/10668/14156Due to the relation between lipids and Hepatitis C virus (HCV) life-cycle, we aimed to explore the existence of single nucleotide polymorphisms (SNPs) associated with low susceptibility to HCV-infection within lipid metabolism genes. This was a case-control study in three phases: (I) allelic frequencies of 9 SNPs within 6 genes were compared in 404 HCV-infected patients and 801 population controls; (II) results were validated in 602 HCV-infected individuals and 1352 controls; (III) results were confirmed in 30 HCV-exposed uninfected (EU) individuals. In phase I, only the LDLRAP1-rs4075184-A allele was differentially distributed in patients and controls (358 of 808 alleles [44.3%] and 807 of 1602 alleles [50.3%], respectively) (p = 0.004). In phase II, the A allele frequency was 547 of 1204 alleles (45.4%) in patients and 1326 of 2704 alleles (49.0%) in controls (p = 0.037). This frequency in EU was 36 of 60 alleles (60%), which was higher than that observed in patients from phase I (p = 0.018) and phase II (p = 0.027). The LDLRAP1-mRNA expression was lower in AA carriers than in non-AA carriers (median [Q1-Q3]: 0.85 [0.17-1.75] relative-units [ru] versus 1.71 [1.00-2.73] ru; p = 0.041). Our results suggest that LDLRAP1-rs4075184-A allele is associated with lower susceptibility to HCV-infection and with reduced expression of LDLRAP1-mRNA.enAttribution 4.0 Internationalhttp://creativecommons.org/licenses/by/4.0/Adaptor proteins, signal transducingAdultCase-control studiesFemaleGenetic predisposition to diseaseHepatitis CHumansLipid metabolismMaleMiddle agedPolymorphism, single nucleotideResearch article31227787open accessEstudios de casos y controlesMetabolismo de los lípidosPolimorfismo de nucleótido simplePredisposición genética a la enfermedad proteínas adaptadoras transductoras de señales10.1038/s41598-019-45389-42045-2322PMC6588564https://www.nature.com/articles/s41598-019-45389-4.pdfhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC6588564/pdf