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The involvement of upstream stimulatory factor 1 in Dutch patients with familial combined hyperlipidemias⃞
- Source :
- Journal of Lipid Research, Vol 48, Iss 1, Pp 193-200 (2007), Journal of Lipid Research, 48, 1, pp. 193-200, Journal of Lipid Research, 48(1), 193-200. American Society for Biochemistry and Molecular Biology Inc., Journal of Lipid Research, 48, 193-200
- Publication Year :
- 2007
- Publisher :
- Elsevier, 2007.
-
Abstract
- Contains fulltext : 52459.pdf (Publisher’s version ) (Open Access) Recently, the upstream stimulatory factor 1 gene (USF1) was proposed as a candidate gene for familial combined hyperlipidemia (FCH). In this study, we examined the previously identified risk haplotype of USF1 with respect to FCH and its related phenotypes in 36 Dutch FCH families. The diagnosis of FCH was based on both the traditional diagnostic criteria and a nomogram. The two polymorphisms, USF1s1 and USF1s2, were in complete linkage disequilibrium. No association was found for the individual single nucleotide polymorphisms (SNPs) with FCH defined by the nomogram (USF1s1, P = 0.53; USF1s2, P = 0.53), whereas suggestive associations were found when using the traditional diagnostic criteria for FCH (USF1s1, P = 0.08; USF1s2, P = 0.07). USF1 was associated with total cholesterol (USF1s1, P = 0.05; USF1s2, P = 0.04) and apolipoprotein B (USF1s1, P = 0.06; USF1s2, P = 0.04). Small dense LDL showed a suggestive association (USF1s1, P = 0.10; USF1s2, P = 0.09). The results from the haplotype analyses supported the results obtained for the individual SNPs. In conclusion, the previously identified risk haplotype of USF1 showed a suggestive association with FCH and contributed to the related lipid traits in our Dutch FCH families.
- Subjects :
- Adult
Male
Candidate gene
Health aging / healthy living [IGMD 5]
Apolipoprotein B
USF1
Hyperlipidemia, Familial Combined
Single-nucleotide polymorphism
Vascular medicine and diabetes [UMCN 2.2]
QD415-436
Polymerase Chain Reaction
Polymorphism, Single Nucleotide
Biochemistry
Upstream Stimulatory Factor
single nucleotide polymorphisms
Endocrinology
Gene Frequency
Humans
apolipoprotein B
Apolipoproteins B
DNA Primers
Netherlands
Retrospective Studies
Genetics
biology
Base Sequence
Cardiovascular diseases [NCEBP 14]
small dense low density lipoprotein
Haplotype
total cholesterol
mRNA expression
Cell Biology
Nomogram
Middle Aged
Phenotype
Lipids
biology.protein
Upstream Stimulatory Factors
Female
Subjects
Details
- Language :
- English
- ISSN :
- 00222275
- Volume :
- 48
- Issue :
- 1
- Database :
- OpenAIRE
- Journal :
- Journal of Lipid Research
- Accession number :
- edsair.doi.dedup.....82fc275b1a2b5a20eb69770201232616