Upstream stimulatory factor 1 associated with familial combined hyperlipidemia, LDL cholesterol, and triglycerides

Hilary Coon, Yuanpei Xin, Paul N. Hopkins, Richard M. Cawthon, Sandra J. Hasstedt, Steven Hunt

Research output: Contribution to journalArticle

53 Citations (Scopus)

Abstract

Positive evidence has been reported for linkage and association between the upstream stimulatory factor 1 gene (USF1) and familial combined hyperlipidemia (FCHL). We genotyped the two most positive single-nucleotide polymorphisms (SNPs) (usf1s1: rs3737787 and usf1s2: rs2073658) from previous studies in a large family sample. This sample included 2,195 subjects in 87 Utah pedigrees ascertained for early death due to coronary heart disease (CHD), early strokes, or early onset hypertension. There were a total of 262 relative pairs in these families with FCHL. In the full family sample, FCHL was associated with usf1s1 (P=0.02). Triglyceride and LDL cholesterol defined qualitatively or quantitatively were also associated with usf1s1 (P=0.02-0.05). Results were strengthened for qualitative and quantitative triglyceride and LDL cholesterol when data from males only was analyzed, revealing associations for usf1s1 (P=0.001-0.02), usf1s2 (P=0.02-0.05) and the haplotype of these two SNPs (P=0.01-0.04). The strongest results were in the subset of subjects from families ascertained for premature stroke or hypertension, rather than those ascertained for premature CHD. This study replicates the involvement of USF1 in FCHL and related lipid traits in a family sample not ascertained for FCHL.

Original languageEnglish
Pages (from-to)444-451
Number of pages8
JournalHuman Genetics
Volume117
Issue number5
DOIs
Publication statusPublished - Sep 2005
Externally publishedYes

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Upstream Stimulatory Factors
Familial Combined Hyperlipidemia
LDL Cholesterol
Single Nucleotide Polymorphism
Coronary Disease
Triglycerides
Stroke
Hypertension
Pedigree
Haplotypes
Genes
Lipids
low density lipoprotein triglyceride

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

Upstream stimulatory factor 1 associated with familial combined hyperlipidemia, LDL cholesterol, and triglycerides. / Coon, Hilary; Xin, Yuanpei; Hopkins, Paul N.; Cawthon, Richard M.; Hasstedt, Sandra J.; Hunt, Steven.

In: Human Genetics, Vol. 117, No. 5, 09.2005, p. 444-451.

Research output: Contribution to journalArticle

Coon, Hilary ; Xin, Yuanpei ; Hopkins, Paul N. ; Cawthon, Richard M. ; Hasstedt, Sandra J. ; Hunt, Steven. / Upstream stimulatory factor 1 associated with familial combined hyperlipidemia, LDL cholesterol, and triglycerides. In: Human Genetics. 2005 ; Vol. 117, No. 5. pp. 444-451.
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