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Clinical Chemistry and Laboratory Medicine (CCLM)

Published in Association with the European Federation of Clinical Chemistry and Laboratory Medicine (EFLM)

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Volume 42, Issue 9 (Sep 2004)


ARH missense polymorphisms and plasma cholesterol levels

Jaroslav A. Hubacek
  • Department of Molecular Genetics and McDermott Center for Human Growth and Development, University of Texas, Dallas, USA; Institute of Clinical and Experimental Medicine, Centre for Experimental Medicine and Centre for Experimental Cardiovascular Research, Prague, Czech Republic
/ Tommy Hyatt
  • Department of Molecular Genetics and McDermott Center for Human Growth and Development, University of Texas, Dallas, USA
Published Online: 2005-06-01 | DOI: https://doi.org/10.1515/CCLM.2004.200


Mutations in a putative low-density lipoprotein (LDL) receptor adaptor protein called ARH have been recently described in patients with autosomal recessive hypercholesterolemia (ARH). ARH plays a tissue-specific role in determination of LDL receptor function. In the ARH gene three mismatched polymorphisms have been detected: Pro202Ser, Pro202His and Arg238Trp. These are of putative interest in plasma cholesterol level determination. To evaluate the effect of polymorphisms on plasma cholesterol levels, all polymorphisms were analyzed by PCR and restriction enzyme analysis by MnlI, HpyCH4IV and SacII in 100 Caucasian males with high (>90%, 6.29 ± 0.89 mmol/l), and 100 males with low (<10%, 3.60 ± 0.57 mmol/l), total plasma cholesterol levels. No significant differences were observed in frequencies of ARH genotypes or alleles between these two extreme groups. These results suggest that ARH polymorphisms are unlikely to be important genetic determinants of plasma cholesterol levels.

Keywords: ARH; cholesterol; polymorphism


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About the article

Corresponding author: J. A. Hubacek, IKEM, CEM, Laboratory of Molecular Genetics, Videnska 1958/9, 140 21 Prague, Czech Republic. Phone: +420/261 363 367, Fax: +420/261 362 236, E-mail:

Received: November 26, 2003

Accepted: August 20, 2004

Published Online: 2005-06-01

Published in Print: 2004-09-01

Citation Information: Clinical Chemistry and Laboratory Medicine, ISSN (Print) 1434-6621, DOI: https://doi.org/10.1515/CCLM.2004.200. Export Citation

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