GTP cyclohydrolase i gene polymorphisms are associated with endothelial dysfunction and oxidative stress in patients with type 2 diabetes mellitus

PLoS ONE

Volumn 9, Issue 11, 2014, Pages

  Wolkow, Pawel P ^a   Kosiniak Kamysz, Wladyslaw ^a   Osmenda, Grzegorz ^a   Wilk, Grzegorz ^a   Bujak Gizycka, Beata ^a   Ignacak, Adam ^a   Kanitkar, Mihir ^b   Walus Miarka, Malgorzata ^a   Harrison, David G ^b   Korbut, Ryszard ^a   Malecki, Maciej T ^a,c   Guzik, Tomasz J ^a,d  

^a JAGIELLONIAN UNIVERSITY MEDICAL COLLEGE   (Poland)

^b VANDERBILT UNIVERSITY   (United States)

^c UNIVERSITY HOSPITAL IN KRAKOW   (Poland)

^d UNIVERSITY OF GLASGOW   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

GUANOSINE TRIPHOSPHATE CYCLOHYDROLASE I; MALONALDEHYDE; TETRAHYDROBIOPTERIN; VON WILLEBRAND FACTOR; 3' UNTRANSLATED REGION;

ADULT; ARTERIAL WALL THICKNESS; ARTICLE; BLOOD LEVEL; CONTROLLED STUDY; DISEASE ACTIVITY; DISEASE ASSOCIATION; ENDOTHELIAL DYSFUNCTION; FEMALE; FLOW MEDIATED DILATION; GENE; GENE FUNCTION; GENE IDENTIFICATION; GENETIC POLYMORPHISM; GTP CYCLOHYDROLASE 1 GENE; HAPLOTYPE; HUMAN; MAJOR CLINICAL STUDY; MALE; MIDDLE AGED; MOLECULAR DYNAMICS; MOLECULAR PATHOLOGY; NITROGLYCERIN MEDIATED DILATION; NON INSULIN DEPENDENT DIABETES MELLITUS; OXIDATIVE STRESS; PHYSICAL PARAMETERS; QUANTITATIVE ANALYSIS; 3' UNTRANSLATED REGION; AGED; ALLELE; BLOOD; ENZYMOLOGY; GENE LINKAGE DISEQUILIBRIUM; GENETICS; GENOTYPE; PATHOLOGY; SINGLE NUCLEOTIDE POLYMORPHISM; VASCULAR ENDOTHELIUM;

3' UNTRANSLATED REGIONS; ADULT; AGED; ALLELES; DIABETES MELLITUS, TYPE 2; ENDOTHELIUM, VASCULAR; FEMALE; GENOTYPE; GTP CYCLOHYDROLASE; HAPLOTYPES; HUMANS; LINKAGE DISEQUILIBRIUM; MALE; MALONDIALDEHYDE; MIDDLE AGED; OXIDATIVE STRESS; POLYMORPHISM, SINGLE NUCLEOTIDE; VON WILLEBRAND FACTOR;

EID: 84939493630     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0108587     Document Type: Article

References (41)

1. Lozano R, Naghavi M, Foreman K, Lim S, Shibuya K, et al. (2012) Global and regional mortality from 235 causes of death for 20 age groups in 1990 and 2010: A systematic analysis for the Global Burden of Disease Study 2010. Lancet 380: 2095-2128.
2. Action to Control Cardiovascular Risk in Diabetes Study Group, Gerstein HC, Miller ME, Byington RP, Goff DC Jr, et al. (2008) Effects of intensive glucose lowering in type 2 diabetes. N Engl J Med 358: 2545-2559.
3. ADVANCE Collaborative Group, Patel A, MacMahon S, Chalmers J, Neal B, et al. (2008) Intensive blood glucose control and vascular outcomes in patients with type 2 diabetes. N Engl J Med 358: 2560-2572.
4. VADT Investigators, Duckworth W, Abraira C, Moritz T, Reda D, et al. (2009) Glucose control and vascular complications in veterans with type 2 diabetes. N Engl J Med 360: 129-139.
5. Flossmann E, Schulz UG, Rothwell PM (2005) Potential confounding by intermediate phenotypes in studies of the genetics of ischaemic stroke. Cerebrovasc Dis 19: 1-10.
6. Smith PG, Day NE (1984) The design of case-control studies: The influence of confounding and interaction effects. Int J Epidemiol 13: 356-365.
7. Watanabe T, Hirata M, Yoshikawa Y, Nagafuchi Y, Toyoshima H, et al. (1985) Role of macrophages in atherosclerosis. Sequential observations of cholesterolinduced rabbit aortic lesion by the immunoperoxidase technique using monoclonal antimacrophage antibody. Lab Invest 53: 80-90.
8. Werns SW, Walton JA, Hsia HH, Nabel EG, Sanz ML, et al. (1989) Evidence of endothelial dysfunction in angiographically normal coronary arteries of patients with coronary artery disease. Circulation 79: 287-291.
9. Guzik B, Sagan A, Ludew D, Mrowiecki W, Chwała M, et al. (2013) Mechanisms of oxidative stress in human aortic aneurysms-association with clinical risk factors for atherosclerosis and disease severity. Int J Cardiol 168: 2389-2396.
10. Hansson GK (1993) Immune and inflammatory mechanisms in the development of atherosclerosis. Br Heart J 69: S38-41.
11. Gotschy A, Bauer E, Schrodt C, Lykowsky G, Ye YX, et al. (2013) Local arterial stiffening assessed by MRI precedes atherosclerotic plaque formation. Circ Cardiovasc Imaging 6: 916-923.
12. Guzik TJ, Sadowski J, Kapelak B, Jopek A, Rudzinski P, et al. (2004) Systemic regulation of vascular NAD(P)H oxidase activity and nox isoform expression in human arteries and veins. Arterioscler Thromb Vasc Biol 24: 1614-1620.
13. Guzik TJ, Mussa S, Gastaldi D, Sadowski J, Ratnatunga C, et al. (2002) Mechanisms of increased vascular superoxide production in human diabetes mellitus: role of NAD(P)H oxidase and endothelial nitric oxide synthase. Circulation 105: 1656-1662.
14. Gesierich A, Niroomand F, Tiefenbacher CP (2003) Role of human GTP cyclohydrolase I and its regulatory protein in tetrahydrobiopterin metabolism. Basic Res Cardiol 98: 69-75.
15. Tegeder I, Costigan M, Griffin RS, Abele A, Belfer I, et al. (2006) GTP cyclohydrolase and tetrahydrobiopterin regulate pain sensitivity and persistence. Nat Med 12: 1269-1277.
16. Antoniades C, Shirodaria C, Van Assche T, Cunnington C, Tegeder I, et al. (2008) GCH1 haplotype determines vascular and plasma biopterin availability in coronary artery disease effects on vascular superoxide production and endothelial function. J Am Coll Cardiol 52: 158-165.
17. Malecki MT, Osmenda G, Walus-Miarka M, Skupien J, Cyganek K, et al. (2008) Retinopathy in type 2 diabetes mellitus is associated with increased intima-media thickness and endothelial dysfunction. Eur J Clin Invest 38: 925- 930.
18. Wilk G, Osmenda G, Matusik P, Nowakowski D, Jasiewicz-Honkisz B, et al. (2013) Endothelial function assessment in atherosclerosis: comparison of brachial artery flow-mediated vasodilation and peripheral arterial tonometry. Pol Arch Med Wewn 123: 443-452.
19. Sim AS, Salonikas C, Naidoo D, Wilcken DE (2003) Improved method for plasma malondialdehyde measurement by high-performance liquid chromatography using methyl malondialdehyde as an internal standard. J Chromatogr - B Analyt Technol Biomed Life Sci 785: 337-344.
20. Zhang L, Rao F, Zhang K, Khandrika S, Das M, et al. (2007) Discovery of common human genetic variants of GTP cyclohydrolase 1 (GCH1) governing nitric oxide, autonomic activity, and cardiovascular risk. J Clin Invest 117: 2658-2671.
21. Doehring A, Antoniades C, Channon KM, Tegeder I, Lotsch J (2008) Clinical genetics of functionally mild non-coding GTP cyclohydrolase 1 (GCH1) polymorphisms modulating pain and cardiovascular risk. Mutat Res 659: 195- 201.
22. International HapMap 3 Consortium, Altshuler DM, Gibbs RA, Peltonen L, Dermitzakis E, et al. (2010) Integrating common and rare genetic variation in diverse human populations. Nature 467: 52-58.
23. Kishi T, Ichinose H, Yoshimura R, Fukuo Y, Kitajima T, et al. (2012) GTP cyclohydrolase 1 gene haplotypes as predictors of SSRI response in Japanese patients with major depressive disorder. J Affect Disord 142: 315-22.
24. Thony B, Blau N (1997) Mutations in the GTP cyclohydrolase I and 6-pyruvoyltetrahydropterin synthase genes. Hum Mutat 10: 11-20.
25. Steinberger D, Weber Y, Korinthenberg R, Deuschl G, Benecke R, et al. (1998) High penetrance and pronounced variation in expressivity of GCH1 mutations in five families with dopa-responsive dystonia. Ann Neurol 43: 634-639.
26. Kim H, Dionne RA (2007) Lack of influence of GTP cyclohydrolase gene (GCH1) variations on pain sensitivity in humans. Mol Pain 3: 6.
27. Lotsch J, Belfer I, Kirchhof A, Mishra BK, Max MB, et al. (2007) Reliable screening for a pain-protective haplotype in the GTP cyclohydrolase 1 gene (GCH1) through the use of 3 or fewer single nucleotide polymorphisms. Clin Chem 53: 1010-1015.
28. Tu YC, Ding H, Wang XJ, Xu YJ, Zhang L, et al. (2010) Exploring epistatic relationships of NO biosynthesis pathway genes in susceptibility to CHD. Acta Pharmacol Sin 31: 874-880.
29. Liao YF, Zeng TS, Chen LL, Li YM, Yu F, et al. (2010) Association of a functional polymorphism (C59038T) in GTP cyclohydrolase 1 gene and Type 2 diabetic macrovascular disease in the Chinese population. J Diabetes Complications 24: 313-319.
30. Oertel BG, Doehring A, Roskam B, Kettner M, Hackmann N, et al. (2012) Genetic-epigenetic interaction modulates m-opioid receptor regulation. Hum Mol Genet 21: 4751-60.
31. Channon KM, Guzik TJ (2002) Mechanisms of superoxide production in human blood vessels: relationship to endothelial dysfunction, clinical and genetic risk factors. J Physiol Pharmacol 53: 515-524.
32. Folli F, Corradi D, Fanti P, Davalli A, Paez A, et al. (2011) The role of oxidative stress in the pathogenesis of type 2 diabetes mellitus micro- And macrovascular complications: Avenues for a mechanistic-based therapeutic approach. Curr Diabetes Rev 7: 313-324.
33. ISIS-4 (1995) a randomised factorial trial assessing early oral captopril, oral mononitrate, and intravenous magnesium sulphate in 58, 050 patients with suspected acute myocardial infarction. ISIS-4 (Fourth International Study of Infarct Survival) Collaborative Group. Lancet 345: 669-685.
34. Werner ER, Blau N, Thony B (2011) Tetrahydrobiopterin: biochemistry and pathophysiology. Biochem J 438: 397-414.
35. Kietadisorn R, Juni RP, Moens AL (2012) Tackling endothelial dysfunction by modulating NOS uncoupling: new insights into its pathogenesis and therapeutic possibilities. Am J Physiol Endocrinol Metab 302: E481-495.
36. Astorri E, Fiorina P, Gavaruzzi G, Astorri A, Magnati G (1997) Left ventricular function in insulin-dependent and in non-insulin-dependent diabetic patients: radionuclide assessment. Cardiology. 88: 152-5.
37. Petrelli A, Di Fenza R, Carvello, Gatti F, Secchi A, et al. (2012) Strategies to reverse endothelial progenitor cell dysfunction in diabetes Exp Diabetes Res 2012: 471823.
38. Tie L, Chen LY, Chen DD, Xie HH, Channon KM, et al. (2014) GTP cyclohydrolase I prevents diabetic-impaired endothelial progenitor cells and wound healing by suppressing oxidative stress/thrombospondin-1. Am J Physiol Endocrinol Metab 306: E1120-31.
39. De Cobelli F, Fiorina P, Perseghin G, Magnone M, Venturini M, et al. (2004) Larginine- induced vasodilation of the renal vasculature is preserved in uremic type 1 diabetic patients after kidney and pancreas but not after kidney-alone transplantation. Diabetes Care 27: 947-54.
40. Fiorina P, La Rocca E, Venturini M, Minicucci F, Fermo I, et al. (2001) Effects of kidney-pancreas transplantation on atherosclerotic risk factors and endothelial function in patients with uremia and type 1 diabetes. Diabetes 50: 496-501.
41. Folli F, Guzzi V, Perego L, Coletta DK, Finzi G, et al. (2010) Proteomics reveals novel oxidative and glycolytic mechanisms in type 1 diabetic patients' skin which are normalized by kidney-pancreas transplantation. PLoS One 5: E9923..