caa a22 4500 378904795 CHVBK 20180305123527.0 cr unu---uuuuu 161128e20040901xx s 000 0 eng 10.1515/CCLM.2004.200 doi (NATIONALLICENCE)gruyter-10.1515/CCLM.2004.200 ARH missense polymorphisms and plasma cholesterol levels [Elektronische Daten] [Jaroslav A. Hubacek, Tommy Hyatt] 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. © Walter de Gruyter Medical equipment & techniques nationallicence Medical diagnosis nationallicence Diseases & disorders nationallicence ARH nationallicence cholesterol nationallicence polymorphism nationallicence Hubacek Jaroslav A. 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 aut Hyatt Tommy Department of Molecular Genetics and McDermott Center for Human Growth and Development, University of Texas, Dallas, USA aut Clinical Chemistry and Laboratory Medicine Walter de Gruyter 42/9(2004-09-01), 989-990 1434-6621 42:9<989 2004 42 cclm https://doi.org/10.1515/CCLM.2004.200 text/html Onlinezugriff via DOI 1 research article jats NATIONALLICENCE 856 40 https://doi.org/10.1515/CCLM.2004.200 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Hubacek Jaroslav A. 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 aut NATIONALLICENCE 700 1- Hyatt Tommy Department of Molecular Genetics and McDermott Center for Human Growth and Development, University of Texas, Dallas, USA aut NATIONALLICENCE 773 0- Clinical Chemistry and Laboratory Medicine Walter de Gruyter 42/9(2004-09-01), 989-990 1434-6621 42:9<989 2004 42 cclm CC0 http://creativecommons.org/publicdomain/zero/1.0 nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-gruyter