Effect of genetic variation in the human S-adenosylhomocysteine hydrolase gene on total homocysteine concentrations and risk of recurrent venous thrombosis

European Journal of Human Genetics : EJHG
Henkjan GellekinkHenk J Blom

Abstract

Hyperhomocysteinemia is an independent and graded risk factor for arterial vascular disease and venous thrombosis. It is still debated via which mechanism homocysteine (Hcy) causes vascular disease. S-adenosylhomocysteine hydrolase (AHCY) catalyses the reversible hydrolysis of S-adenosylhomocysteine (AdoHcy) to Hcy. As an increase in AdoHcy, a strong inhibitor of many methyltransferases, is observed in hyperhomocysteinemic individuals, AdoHcy may play a role in the development of cardiovascular diseases by inhibiting transmethylation reactions. We sequenced the entire coding region and parts of the untranslated regions (UTRs) of the AHCY gene of 20 patients with recurrent venous thrombosis in order to identify genetic variation within this gene. We identified three sequence variants in the AHCY gene: a C > T transition in the 5' UTR (-34 bp C > T), a missense mutation in exon 2, which mandates an amino-acid conversion at codon 38 (112 C > T; Arg38Trp) and a silent mutation in exon 4 (390 C > T; Asp130Asp). We studied the effect of the first two variants on total plasma Hcy and venous thrombosis risk in a case-control study on recurrent venous thrombosis. The two polymorphisms under study seem to have no evident effect on tHcy. ...Continue Reading

References

Apr 25, 1991·The New England Journal of Medicine·R ClarkeI Graham
May 1, 1989·Annals of Human Genetics·F X Arredondo-VegaD B Whitehouse
May 1, 1989·Annals of Human Genetics·D E Coulter-Karis, M S Hershfield
Feb 11, 1988·Nucleic Acids Research·S A MillerH F Polesky
Jan 1, 1983·Human Genetics·S BissbortK H Grzeschik
Mar 1, 1995·Annals of Clinical Biochemistry·M T te Poele-PothoffH J Blom
Mar 24, 1998·Annual Review of Medicine·H RefsumS E Vollset
Sep 10, 1999·Arteriosclerosis, Thrombosis, and Vascular Biology·M O LaukkanenS Ylä-Herttuala
May 5, 2001·Journal of Clinical Epidemiology·A de BreeD Kromhout
Nov 28, 2001·The American Journal of Clinical Nutrition·D M KerinsC Wagner
Jun 27, 2002·Vascular Medicine·Mikko O HiltunenSeppo Ylä-Herttuala
Oct 26, 2002·JAMA : the Journal of the American Medical Association·UNKNOWN Homocysteine Studies Collaboration
Nov 26, 2002·BMJ : British Medical Journal·David S WaldJoan K Morris
Mar 17, 2004·Proceedings of the National Academy of Sciences of the United States of America·Ivo BaricS Harvey Mudd

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Citations

Jun 1, 2006·Journal of Inherited Metabolic Disease·N R M BuistS H Mudd
Dec 14, 2006·European Journal of Human Genetics : EJHG·Ksenija FumićOliver Vugrek
Jul 8, 2009·The Pharmacogenomics Journal·D F CarrUNKNOWN FolATED study team
Jul 22, 2009·Journal of Neurochemistry·Qiping FengRichard M Weinshilboum
Apr 26, 2016·Clinica Chimica Acta; International Journal of Clinical Chemistry·Venkata Pinnelli BharatkumarRita Christopher
Sep 12, 2008·British Journal of Haematology·Catherine N Bagot, Roopen Arya
Apr 3, 2013·Critical Care Nurse·Pamela L SmithburgerSandra L Kane-Gill
Dec 8, 2009·Medicinal Research Reviews·Yu-Kai Lee, Mark R Player
Jul 17, 2013·Journal of Thrombosis and Haemostasis : JTH·C SchulzS Massberg
Dec 21, 2006·Molecular and Cellular Biochemistry·Joemerson Osório RosadoDiego Bonatto
Oct 23, 2019·Journal of Oncology·Federica BrugnoliValeria Bertagnolo

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