Association of USF1 and APOA5 polymorphisms with familial combined hyperlipidemia in an Italian population. Issue 1 (February 2015)

• Record Type: Journal Article
• Authors: Di Taranto, Maria Donata; Staiano, Antonino; D'Agostino, Maria Nicoletta; D'Angelo, Antonietta; Bloise, Elena; Morgante, Alberto; Marotta, Gennaro; Gentile, Marco; Rubba, Paolo; Fortunato, Giuliana
• Is Part Of: Molecular and cellular probes. Volume 29:Issue 1(2015)
• Page Start: 19
• Page End: 24
• Publication Date: 2015-02
• Subjects: Familial combined hyperlipidemia -- Single nucleotide polymorphism (SNP) -- Apolipoprotein A-V (APOA5) -- Upstream stimulatory factor 1 (USF1); APOA5 Apolipoprotein A-V -- ApoB Apolipoprotein B -- APOC3 Apolipoprotein C-III -- APOE Apolipoprotein E -- CETP cholesteryl ester transfer protein, plasma -- FCH familial combined hyperlipidemia -- HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase -- KIF6 Kinesin family member 6 -- LDLR LDL receptor -- LPL lipoprotein lipase -- PCSK9 proprotein convertase subtilisin/kexin type 9 -- PPARG peroxisome proliferator-activated receptor gamma -- sdLDL small dense LDL -- SNP single nucleotide polymorphisms -- USF1 upstream stimulatory factor 1; Molecular probes -- Diagnostic use -- Periodicals; Pathology, Cellular -- Technique -- Periodicals; Cell Biology -- Periodicals; Molecular Biology -- Periodicals; Sondes moléculaires -- Utilisation diagnostique -- Périodiques; Cytopathologie -- Technique -- Périodiques; 572
• DOI: 10.1016/j.mcp.2014.10.002
• Languages: English
• ISSNs: 0890-8508

Abstract

Abstract: Background: Familial combined hyperlipidemia (FCH) is a polygenic and multifactorial disease characterized by a variable phenotype showing increased levels of triglycerides and/or cholesterol. The aim of this study was to identify single nucleotides (SNPs) in lipid-related genes associated with FCH. Methods and results: Twenty SNPs in lipid-related genes were studied in 142 control subjects and 165 FCH patients after excluding patients with mutations in the LDLR gene and patients with the E2/E2 genotype of APOE. In particular, we studied the 9996G > A (rs2073658) and 11235C > T (rs3737787) variants in the Upstream Stimulatory Factor 1 gene (USF1), and the −1131T > C (rs662799) and S19W (rs3135506) variants in the Apolipoprotein A-V gene (APOA5). We found that the frequencies of these variants differed between patients and controls and that are associated with different lipid profiles. At multivariate logistic regression SNP S19W in APOA5 remained significantly associated with FCH independently of age, sex, BMI, cholesterol and triglycerides. Conclusions: Our results show that the USF1 and APOA5 polymorphisms are associated with FCH and that the S19W SNP in the APOA5 gene is associated to the disease independently of total cholesterol, triglycerides and BMI. However, more extensive studies including other SNPs such as rs2516839 in USF1, are required.