Thioredoxin interacting protein in Dutch families with familial combined hyperlipidemia

American Journal of Medical Genetics. Part a
Gerly M van der VleutenJacqueline de Graaf

Abstract

Familial combined hyperlipidemia (FCH), characterized by multiple lipoprotein phenotypes, is the most common hereditary lipid disorder in humans. A mutant mouse strain, HcB-19, with similar biochemical features as FCH patients, has recently been identified. The mutation causing the FCH phenotype in these mice is located in the thioredoxin interacting protein (TXNIP) gene. The TXNIP gene in mice is located on chromosome 3F2.2, which is syntenic to chromosome 1q21 in humans, a region where several groups have positioned a locus for FCH. To evaluate the potential role of TXNIP in the FCH phenotype in humans, we analyzed the coding region, 5' UTR and introns of the TXNIP gene by direct sequencing in 10 well-defined patients with FCH and 5 healthy controls. We did not find any sequence variants in these regions of the TXNIP gene in patients with FCH. Our results suggest that different genes are involved in the FCH phenotype in humans compared to mice. We conclude that in our Dutch FCH patients, the TXNIP gene, based on its intronic, exonic, and 5' UTR sequences, is not involved as a major contributor to the FCH phenotype. This article contains supplementary material, which may be viewed at the American Journal of Medical Genetics we...Continue Reading

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Citations

Apr 7, 2005·Current Atherosclerosis Reports·Mahmoud AlawadhiJacques Genest
May 23, 2012·Antioxidants & Redox Signaling·Samuel LeeRichard T Lee
Jan 17, 2012·Journal of Clinical Biochemistry and Nutrition·Hiroshi MasutaniJunji Yodoi
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May 22, 2016·European Journal of Clinical Investigation·Sergio Martinez-HervasJuan F Ascaso
Apr 1, 2006·American Journal of Medical Genetics. Part a·Gerly M van der VleutenJacqueline de Graaf
Feb 15, 2012·Nature Reviews. Endocrinology·Martijn C G J BrouwersAnton F H Stalenhoef
Oct 19, 2010·Molecular and Cellular Biochemistry·Shaohong FangHongbo Zhou
Oct 27, 2006·Journal of Lipid Research·Gerly M van der VleutenJacqueline de Graaf
Aug 14, 2021·Antioxidants & Redox Signaling·Hiroshi Masutani

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