Clinical genetics of functionally mild non-coding GTP cyclohydrolase 1 (GCH1) polymorphisms modulating pain and cardiovascular risk

Mutation Research - Reviews in Mutation Research

Volumn 659, Issue 3, 2008, Pages 195-201

  Doehring, Alexandra ^a   Antoniades, Charalambos ^b   Channon, Keith M ^b   Tegeder, Irmgard ^a   Lötsch, Jörn ^a  

^a GOETHE UNIVERSITY   (Germany)

^b UNIVERSITY OF OXFORD   (United Kingdom)

Author keywords

GCH1; Single nucleotide polymorphism; Tetrahydrobiopterin

Indexed keywords

DOPA; GUANOSINE TRIPHOSPHATE CYCLOHYDROLASE I;

CARDIOVASCULAR RISK; CHRONIC PAIN; CLINICAL GENETICS; DYSTONIA; ENDOTHELIUM; ENZYME POLYMORPHISM; HAPLOTYPE; HUMAN; MODULATION; PHENYLKETONURIA; PRIORITY JOURNAL; REVIEW; RISK REDUCTION;

3' UNTRANSLATED REGIONS; CARDIOVASCULAR DISEASES; ENDOTHELIUM, VASCULAR; GTP CYCLOHYDROLASE; HETEROZYGOTE; HUMANS; PAIN; POLYMORPHISM, SINGLE NUCLEOTIDE; RISK;

EID: 49849084603     PISSN: 13835742     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.mrrev.2008.04.007     Document Type: Review

References (30)

1. Auerbach G., and Nar H. The pathway from GTP to tetrahydrobiopterin: three-dimensional structures of GTP cyclohydrolase I and 6-pyruvoyl tetrahydropterin synthase. Biol. Chem. 378 (1997) 185-192
2. Thony B., Auerbach G., and Blau N. Tetrahydrobiopterin biosynthesis, regeneration and functions. Biochem. J. 347 Pt 1 (2000) 1-16
3. Werner-Felmayer G., Golderer G., and Werner E.R. Tetrahydrobiopterin biosynthesis, utilization and pharmacological effects. Curr. Drug Metab. 3 (2002) 159-173
4. Thony B., and Blau N. Mutations in the BH4-metabolizing genes GTP cyclohydrolase I, 6-pyruvoyl-tetrahydropterin synthase, sepiapterin reductase, carbinolamine-4α-dehydratase, and dihydropteridine reductase. Hum. Mutat. 27 (2006) 870-878
5. Blau N., Bonafe L., and Thony B. Tetrahydrobiopterin deficiencies without hyperphenylalaninemia: diagnosis and genetics of DOPA-responsive dystonia and sepiapterin reductase deficiency. Mol. Genet. Metab. 74 (2001) 172-185
6. Ichinose H., Ohye T., Takahashi E., Seki N., Hori T., Segawa M., Nomura Y., Endo K., Tanaka H., Tsuji S., et al. Hereditary progressive dystonia with marked diurnal fluctuation caused by mutations in the GTP cyclohydrolase I gene. Nat. Genet. 8 (1994) 236-242
7. Niederwieser A., Shintaku H., Hasler T., Curtius H.C., Lehmann H., Guardamagna O., and Schmidt H. Prenatal diagnosis of "dihydrobiopterin synthetase" deficiency, a variant form of phenylketonuria. Eur. J. Pediatr. 145 (1986) 176-178
8. Tegeder I., Costigan M., Griffin R.S., Abele A., Belfer I., Schmidt H., Ehnert C., Nejim J., Marian C., Scholz J., Wu T., Allchorne A., Diatchenko L., Binshtok A.M., Goldman D., Adolph J., Sama S., Atlas S.J., Carlezon W.A., Parsegian A., Lötsch J., Fillingim R.B., Maixner W., Geisslinger G., Max M.B., and Woolf C.J. GTP cyclohydrolase and tetrahydrobiopterin regulate pain sensitivity and persistence. Nat. Med. 12 (2006) 1269-1277
9. Kim H., and Dionne R.A. Lack of influence of GTP cyclohydrolase gene (GCH1) variations on pain sensitivity in humans. Mol. Pain 3 (2007) 6
10. Tegeder I., Adolph J., Doehring A., Schmidt H., Woolf C.J., Geisslinger G., and Lötsch J. Reduced hyperalgesia in homozygous carriers of a GTP cyclohydrolase 1 haplotype. Eur. J. Pain (2008)
11. Zhang L., Rao F., Zhang K., Khandrika S., Das M., Vaingankar S.M., Bao X., Rana B.K., Smith D.W., Wessel J., Salem R.M., Rodriguez-Flores J.L., Mahata S.K., Schork N.J., Ziegler M.G., and O'Connor D.T. Discovery of common human genetic variants of GTP cyclohydrolase 1 (GCH1) governing nitric oxide, autonomic activity, and cardiovascular risk. J. Clin. Invest. 117 (2007) 2658-2671
12. Antoniades C., Shirodaria C., Van Assche T., Cunnington C., Tegeder I., Lötsch J., Guzik T.J., Leeson P., Diesch J., Tousoulis D., Stefanadis C., Costigan M., Woolf C.J., Alp N.J., and Channon K.M. GCH-1 haplotype determines vascular and plasma biopterin availability in coronary artery disease: effects on vascular superoxide production and endothelial function. J. Am. Coll. Cardiol. (2007)
13. Lötsch J., Belfer I., Kirchhof A., Mishra B.K., Max M.B., Doehring A., Costigan M., Woolf C.J., Geisslinger G., and Tegeder I. 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 (2007) 1010-1015
14. Barrett J.C., Fry B., Maller J., and Daly M.J. Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics 21 (2005) 263-265
15. Cohen J. A coefficient of agreement for nominal scale. J. Educ. Psychol. Meas. 20 (1960) 37-46
16. Landis J.R., and Koch G.G. The measurement of observer agreement for categorical data. Biometrics 33 (1977) 159-174
17. Altman D.G., and Bland J.M. Diagnostic tests. 1. Sensitivity and specificity. BMJ 308 (1994) 1552
18. Du Y.H., Guan Y.Y., Alp N.J., Channon K.M., and Chen A.F. Endothelium-specific GTP cyclohydrolase I overexpression attenuates blood pressure progression in salt-sensitive low-renin hypertension. Circulation 117 (2008) 1045-1054
19. Widder J.D., Chen W., Li L., Dikalov S., Thony B., Hatakeyama K., and Harrison D.G. Regulation of tetrahydrobiopterin biosynthesis by shear stress. Circ. Res. 101 (2007) 830-838
20. Choi H.J., Kim S.W., Lee S.Y., Moon Y.W., and Hwang O. Involvement of apoptosis and calcium mobilization in tetrahydrobiopterin-induced dopaminergic cell death. Exp. Neurol. 181 (2003) 281-290
21. Cho S., Volpe B.T., Bae Y., Hwang O., Choi H.J., Gal J., Park L.C., Chu C.K., Du J., and Joh T.H. Blockade of tetrahydrobiopterin synthesis protects neurons after transient forebrain ischemia in rat: a novel role for the cofactor. J. Neurosci. 19 (1999) 878-889
22. Diatchenko L., Nackley A.G., Tchivileva I.E., Shabalina S.A., and Maixner W. Genetic architecture of human pain perception. Trends Genet. 23 (2007) 605-613
23. Lötsch J., and Geisslinger G. Current evidence for a modulation of nociception by human genetic polymorphisms. Pain 132 (2007) 18-22
24. Tonk M., and Haan J. A review of genetic causes of ischemic and hemorrhagic stroke. J. Neurol. Sci. 257 (2007) 273-279
25. Shah S.H. Gene polymorphisms and susceptibility to coronary artery disease. Pediatr. Blood Cancer 48 (2007) 738-741
26. Lötsch J., and Geisslinger G. Current evidence for a genetic modulation of the response to analgesics. Pain 121 (2006) 1-5
27. Lötsch J., Belfer I., Kirchhof A., Mishra B., Max M., Doehring A., Costigan M., Woolf C.J., Geisslinger G., and Tegeder I. 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. (2007)
28. den Dunnen J.T., and Antonarakis S.E. Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion. Hum. Mutat. 15 (2000) 7-12
29. Hardy G.H. Mendelian proportions in a mixed population. Science 28 (1908) 49-50
30. Ronaghi M., Uhlen M., and Nyren P. A sequencing method based on real-time pyrophosphate. Science 281 (1998) 363-365