title: Association of USF1 and APOA5 polymorphisms with familial combined hyperlipidemia in an Italian population.
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.
  
  
  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.
authors.affiliation: IRCCS SDN, Via Emanuele Gianturco 113, 80143 Napoli, Italy.
authors.forename: Maria Donata
authors.initials: MD
authors.lastname: Di Taranto
authors.affiliation: Dipartimento di Scienze e Tecnologie, Università di Napoli Parthenope, Isola C4, Centro Direzionale, 80143 Napoli, Italy.
authors.forename: Antonino
authors.initials: A
authors.lastname: Staiano
authors.affiliation: Dipartimento di Medicina Molecolare e Biotecnologie Mediche, Università degli Studi di Napoli Federico II, Via Sergio Pansini 5, 80131 Napoli, Italy; CEINGE Biotecnologie Avanzate S.C. a r.l., Via Gaetano Salvatore 486, 80145 Napoli, Italy.
authors.forename: Maria Nicoletta
authors.initials: MN
authors.lastname: D'Agostino
authors.affiliation: Dipartimento di Medicina Molecolare e Biotecnologie Mediche, Università degli Studi di Napoli Federico II, Via Sergio Pansini 5, 80131 Napoli, Italy; CEINGE Biotecnologie Avanzate S.C. a r.l., Via Gaetano Salvatore 486, 80145 Napoli, Italy.
authors.forename: Antonietta
authors.initials: A
authors.lastname: D'Angelo
authors.affiliation: CEINGE Biotecnologie Avanzate S.C. a r.l., Via Gaetano Salvatore 486, 80145 Napoli, Italy.
authors.forename: Elena
authors.initials: E
authors.lastname: Bloise
authors.affiliation: CEINGE Biotecnologie Avanzate S.C. a r.l., Via Gaetano Salvatore 486, 80145 Napoli, Italy.
authors.forename: Alberto
authors.initials: A
authors.lastname: Morgante
authors.affiliation: Dipartimento di Medicina Clinica e Chirurgia, Università degli Studi di Napoli Federico II, Via Sergio Pansini 5, 80131 Napoli, Italy.
authors.forename: Gennaro
authors.initials: G
authors.lastname: Marotta
authors.affiliation: Dipartimento di Medicina Clinica e Chirurgia, Università degli Studi di Napoli Federico II, Via Sergio Pansini 5, 80131 Napoli, Italy.
authors.forename: Marco
authors.initials: M
authors.lastname: Gentile
authors.affiliation: Dipartimento di Medicina Clinica e Chirurgia, Università degli Studi di Napoli Federico II, Via Sergio Pansini 5, 80131 Napoli, Italy.
authors.forename: Paolo
authors.initials: P
authors.lastname: Rubba
authors.affiliation: Dipartimento di Medicina Molecolare e Biotecnologie Mediche, Università degli Studi di Napoli Federico II, Via Sergio Pansini 5, 80131 Napoli, Italy; CEINGE Biotecnologie Avanzate S.C. a r.l., Via Gaetano Salvatore 486, 80145 Napoli, Italy. Electronic address: fortunat@unina.it.
authors.forename: Giuliana
authors.initials: G
authors.lastname: Fortunato
mesh_terms: D000328:Adult; D000072040:Apolipoprotein A-V; D001054:Apolipoproteins A / Q000235:genetics*; D015992:Body Mass Index; D016022:Case-Control Studies; D005260:Female; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D006801:Humans; D006950:Hyperlipidemia, Familial Combined / Q000097:blood / Q000235:genetics*; D007558:Italy; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D014280:Triglycerides / Q000097:blood; D051720:Upstream Stimulatory Factors / Q000235:genetics*; D044465:White People / Q000235:genetics*
chemical_list: C437704:APOA5 protein, human; D000072040:Apolipoprotein A-V; D001054:Apolipoproteins A; D014280:Triglycerides; C497181:USF1 protein, human; D051720:Upstream Stimulatory Factors
keywords: Apolipoprotein A-V (APOA5); Familial combined hyperlipidemia; Single nucleotide polymorphism (SNP); Upstream stimulatory factor 1 (USF1)