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Papers In Press, published online ahead of print October 25, 2006
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General Internal Medicine, Radboud University Nijmegen Medical Centre, Nijmegen 6500 HB
Corresponding Author: G.vandervleuten{at}aig.umcn.nl
Familial combined hyperlipidemia (FCH) is the most common hereditary lipid disorder in humans; however, the genetic origin is still unknown. Recently, the upstream stimulatory factor 1 (USF1) gene was proposed as a candidate gene. Two polymorphisms in this gene were associated with FCH and its related phenotypes. In the present study, we examined these two SNPs with respect to FCH, and its related phenotypes, in Dutch FCH families. The study population consisted of 36 Dutch FCH families, including 157 FCH patients. The diagnosis of FCH was based on both the traditional diagnostic criteria and a nomogram. The polymorphisms, USF1s1 and USF1s2, were genotyped with PCR-RFLP. USF1 expression levels in PBMCs were measured using a SYBR Green-based quantitative real-time PCR. The family-based association test (FBAT) software was used for statistical analyses. The two polymorphisms were in complete linkage disequilibrium. No association was found for the individual SNPs with FCH defined by the nomogram (USF1s1: p=0.53 and USF1s2: p=0.53) whereas suggestive associations were found when using the traditional diagnostic criteria for FCH (USF1s1: p=0.08 and USF1s2: p=0.07). USF1 was associated with total cholesterol (USF1s1: p=0.05 and USF1s2: p=0.04) and apolipoprotein B (USF1s1: p=0.06 and USF1s2: p=0.04). Small dense LDL showed suggestive association (USF1s1: p=0.10 and USF1s2: p=0.09). The results from the haplotype analyses supported the results obtained for the individual SNPs. Quantitative RT-PCR experiments did not show haplotype-dependent differences in USF1 expression levels in PBMCs. In conclusion, the previously identified risk haplotype of USF1 showed a suggestive association with FCH and contributes to the related lipid traits in our Dutch FCH families.
Revised on October 17, 2006
Accepted on October 25, 2006
The involvement of upstream stimulatory factor 1 (USF1) in Dutch patients with familial combined hyperlipidemia
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