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.
| Original language | English |
|---|---|
| Pages (from-to) | 19-24 |
| Number of pages | 6 |
| Journal | Molecular and Cellular Probes |
| Volume | 29 |
| Issue number | 1 |
| DOIs | |
| Publication status | Published - Feb 1 2015 |
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Keywords
- Apolipoprotein A-V (APOA5)
- Familial combined hyperlipidemia
- Single nucleotide polymorphism (SNP)
- Upstream stimulatory factor 1 (USF1)
ASJC Scopus subject areas
- Cell Biology
- Molecular Biology
Cite this
Association of USF1 and APOA5 polymorphisms with familial combined hyperlipidemia in an Italian population. / 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.
In: Molecular and Cellular Probes, Vol. 29, No. 1, 01.02.2015, p. 19-24.Research output: Contribution to journal › Article
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TY - JOUR
T1 - Association of USF1 and APOA5 polymorphisms with familial combined hyperlipidemia in an Italian population
AU - Di Taranto, Maria Donata
AU - Staiano, Antonino
AU - D'Agostino, Maria Nicoletta
AU - D'Angelo, Antonietta
AU - Bloise, Elena
AU - Morgante, Alberto
AU - Marotta, Gennaro
AU - Gentile, Marco
AU - Rubba, Paolo
AU - Fortunato, Giuliana
PY - 2015/2/1
Y1 - 2015/2/1
N2 - 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.
AB - 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.
KW - Apolipoprotein A-V (APOA5)
KW - Familial combined hyperlipidemia
KW - Single nucleotide polymorphism (SNP)
KW - Upstream stimulatory factor 1 (USF1)
UR - http://www.scopus.com/inward/record.url?scp=84923359745&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84923359745&partnerID=8YFLogxK
U2 - 10.1016/j.mcp.2014.10.002
DO - 10.1016/j.mcp.2014.10.002
M3 - Article
C2 - 25308402
AN - SCOPUS:84923359745
VL - 29
SP - 19
EP - 24
JO - Molecular and Cellular Probes
JF - Molecular and Cellular Probes
SN - 0890-8508
IS - 1
ER -