Tyrosine hydroxylase, the rate-limiting enzyme in catecholamine biosynthesis: Discovery of common human genetic variants governing transcription, autonomic activity, and blood pressure in vivo

Circulation

Volumn 116, Issue 9, 2007, Pages 993-1006

  Rao, Fangwen ^a   Zhang, Lian ^a   Wessel, Jennifer ^b   Zhang, Kuixing ^a   Wen, Gen ^a   Kennedy, Brian P ^a   Rana, Brinda K ^b   Das, Madhusudan ^a   Rodriguez Flores, Juan L ^a   Smith, Douglas W ^b   Cadman, Peter E ^a   Salem, Rany M ^a   Mahata, Sushil K ^a,c   Schork, Nicholas J ^b   Taupenot, Laurent ^a   Ziegler, Michael G ^a   O'Connor, Daniel T ^a,b,c  

^a UNIVERSITY OF CALIFORNIA SAN DIEGO   (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

^c VA SAN DIEGO HEALTHCARE SYSTEM   (United States)

Author keywords

Catecholamines; Genetics; Nervous system, autonomic; Nervous system, sympathetic; Norepinephrine

Indexed keywords

CATECHOLAMINE; NORADRENALIN; TYROSINE 3 MONOOXYGENASE;

AGE DISTRIBUTION; ARTICLE; AUTONOMIC NERVOUS SYSTEM; CATECHOLAMINE SYNTHESIS; CATECHOLAMINE URINE LEVEL; CHROMAFFIN CELL; COLD STRESS; CONTROLLED STUDY; DIASTOLIC BLOOD PRESSURE; ENVIRONMENTAL STRESS; ETHNIC DIFFERENCE; FEMALE; GENE LINKAGE DISEQUILIBRIUM; GENE LOCUS; GENETIC TRANSFECTION; GENETIC VARIABILITY; GENOTYPE; HAPLOTYPE; HEMODYNAMICS; HUMAN; HYPERTENSION; IN VIVO STUDY; MAJOR CLINICAL STUDY; MALE; NORADRENALIN RELEASE; NORADRENALIN URINE LEVEL; PLEIOTROPY; PRESSORECEPTOR; PRIORITY JOURNAL; SEX DIFFERENCE; SINGLE NUCLEOTIDE POLYMORPHISM; TRANSCRIPTION REGULATION;

ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; ALGORITHMS; AUTONOMIC NERVOUS SYSTEM; BLOOD PRESSURE; CARDIOVASCULAR DISEASES; CATECHOLAMINES; GENETIC PREDISPOSITION TO DISEASE; HUMANS; KINETICS; MIDDLE AGED; POLYMORPHISM, SINGLE NUCLEOTIDE; TRANSCRIPTION, GENETIC; TWINS, DIZYGOTIC; TWINS, MONOZYGOTIC; TYROSINE 3-MONOOXYGENASE; VARIATION (GENETICS);

EID: 34548202734     PISSN: 00097322     EISSN: None     Source Type: Journal    
DOI: 10.1161/CIRCULATIONAHA.106.682302     Document Type: Article

References (48)

1. Flatmark T, Stevens RC. Structural insight into the aromatic amino acid hydroxylases and their disease-related mutant forms. Chem Rev. 1999;99:2137-2160.
2. Kobayashi K, Nagatsu T. Molecular genetics of tyrosine 3-monooxygenase and inherited diseases. Biochem Biophys Res Commun. 2005;338:267-270.
3. Zhou QY, Quaife CJ, Palmiter RD. Targeted disruption of the tyrosine hydroxylase gene reveals that catecholamines are required for mouse fetal development. Nature. 1995;374:640-643.
4. Sharma P, Hingorani A, Jia H, Ashby M, Hopper R, Clayton D, Brown MJ. Positive association of tyrosine hydroxylase microsatellite marker to essential hypertension. Hypertension. 1998;32:676-682.
5. Lim LC, Gurling H, Curtis D, Brynjolfsson J, Petursson H, Gill M. Linkage between tyrosine hydroxylase gene and affective disorder cannot be excluded in two of six pedigrees. Am J Med Genet. 1993;48:223-228.
6. Meloni R, Laurent C, Campion D, Ben Hadjali B, Thibaut F, Dollfus S, Petit M, Samolyk D, Martinez M, Poirier MF, Mallet J. A rare allele of a microsatellite located in the tyrosine hydroxylase gene found in schizophrenic patients. C R Acad Sci III. 1995;318:803-809.
7. Thibaut F, Ribeyre JM, Dourmap N, Meloni R, Laurent C, Campion D, Menard JF, Dollfus S, Mallet J, Petit M. Association of DNA polymorphism in the first intron of the tyrosine hydroxylase gene with disturbances of the catecholaminergic system in schizophrenia. Schizophr Res. 1997;23:259-264.
8. Zhang L, Rao F, Wessel J, Kennedy BP, Rana BK, Taupenot L, Lillie EO, Cockburn M, Schork NJ, Ziegler MG, O'Connor DT. Functional allelic heterogeneity and pleiotropy of a repeat polymorphism in tyrosine hydroxylase: prediction of catecholamines and response to stress in twins. Physiol Genomics. 2004;19:277-291.
9. Albanese V, Biguet NF, Kiefer H, Bayard E, Mallet J, Meloni R. Quantitative effects on gene silencing by allelic variation at a tetranucleotide microsatellite. Hum Mol Genet. 2001;10:1785-1792.
10. Do KA, Broom BM, Kuhnert P, Duffy DL, Todorov AA, Treloar SA, Martin NG. Genetic analysis of the age at menopause by using estimating equations and Bayesian random effects models. Stat Med. 2000;19:1217-1235.
11. Almasy L, Blangero J. Multipoint quantitative-trait linkage analysis in general pedigrees. Am J Hum Genet. 1998;62:1198-1211.
12. Stephens M, Smith NJ, Donnelly P. A new statistical method for haplotype reconstruction from population data. Am J Hum Genet. 2001;68:978-989.
13. Abecasis GR, Cookson WO. GOLD: graphical overview of linkage disequilibrium. Bioinformatics. 2000;16:182-183.
14. Falconer DS, Mackay TFC. Heritability. In: Introduction to Quantitative Genetics. Essex, England: Longman; 1996;160-183.
15. Almasy L, Dyer TD, Blangero J. Bivariate quantitative trait linkage analysis: pleiotropy versus co-incident linkages. Genet Epidemiol. 1997;14:953-958.
16. Rosenberg NA, Nordborg M. Genealogical trees, coalescent theory and the analysis of genetic polymorphisms. Nat Rev Genet. 2002;3:380-390.
17. Bahlo M, Griffiths RC. Inference from gene trees in a subdivided population. Theor Popul Biol. 2000;57:79-95.
18. Nyholt DR. A simple correction for multiple testing for single-nucleotide polymorphisms in linkage disequilibrium with each other. Am J Hum Genet. 2004;74:765-769.
19. Mehta CR, Patel NR. A network algorithm for performing Fisher's exact test in RxC contingency tables. J Am Stat Assoc. 1983;78:427-434.
20. Clarkson D, Fan YA, Joe H. A remark on algorithm 643: FEXACT: an algorithm for performing Fisher's exact test in RxC contingency tables. ACM Trans Mathematical Software. 1993;19:484-488.
21. Gonzalez-Trapaga JL, Nelesen RA, Dimsdale JE, Mills PJ, Kennedy B, Parmer RJ, Ziegler MG. Plasma epinephrine levels in hypertension and across gender and ethnicity. Life Sci. 2000;66:2383-2392.
22. Perneger TV. What's wrong with Bonferroni adjustments. BMJ. 1998;316:1236-128.
23. Sankoh AJ, Huque MF, Dubey SD. Some comments on frequently used multiple endpoint adjustment methods in clinical trials. Stat Med. 1997;16:2529-2542.
24. Benjamini Y, Yekutieli D. The control of the false discovery rate in multiple testing under dependency. Ann Stat. 2001;29:1165-1188.
25. Cockburn M, Hamilton A, Zadnick J, Cozen W, Mack TM. The occurrence of chronic disease and other conditions in a large population-based cohort of native Californian twins. Twin Res. 2002;5:460-467.
26. Cui JS, Hopper JL, Harrap SB. Antihypertensive treatments obscure familial contributions to blood pressure variation. Hypertension. 2003;41:207-210.
27. Flatmark T. Catecholamine biosynthesis and physiological regulation in neuroendocrine cells. Acta Physiol Scand. 2000;168:1-17.
28. Carson RP, Robertson D. Genetic manipulation of noradrenergic neurons. J Pharmacol Exp Ther. 2002;301:410-417.
29. Barbeau P, Litaker MS, Jackson RW, Treiber FA. A tyrosine hydroxylase microsatellite and hemodynamic response to stress in a multi-ethnic sample of youth. Ethn Dis. 2003;13:186-192.
30. Goodwill KE, Sabatier C, Marks C, Raag R, Fitzpatrick PF, Stevens RC. Crystal structure of tyrosine hydroxylase at 2.3 A and its implications for inherited neurodegenerative diseases. Nat Struct Biol. 1997;4:578-585.
31. Mendelsohn ME, Karas RH. Molecular and cellular basis of cardiovascular gender differences. Science. 2005;308:1583-1587.
32. Oparil S, Wright JT Jr. Ethnicity and blood pressure. J Clin Hypertens (Greenwich). 2005;7:357-364.
33. Thomas KS, Nelesen RA, Ziegler MG, Bardwell WA, Dimsdale JE. Job strain, ethnicity, and sympathetic nervous system activity. Hypertension. 2004;44:891-896.
34. Stein CM, Lang CC, Singh I, He HB, Wood AJ. Increased vascular adrenergic vasoconstriction and decreased vasodilation in blacks: additive mechanisms leading to enhanced vascular reactivity. Hypertension. 2000;36:945-951.
35. Boomsma D, Busjahn A, Peltonen L. Classical twin studies and beyond. Nat Rev Genet. 2002;3:872-882.
36. MacGregor AJ, Snieder H, Schork NJ, Spector TD. Twins: novel uses to study complex traits and genetic diseases. Trends Genet. 2000;16:131-134.
37. Altshuler D, Brooks LD, Chakravarti A, Collins FS, Daly MJ, Donnelly P. A haplotype map of the human genome. Nature. 2005;437:1299-1320.
38. Terwilliger JD, Hiekkalinna T. An utter refutation of the "Fundamental Theorem of the HapMap". Eur J Hum Genet. 2006;14:426-437.
39. O'Connor DT, Insel PA, Ziegler MG, Hook VY, Smith DW, Hamilton BA, Taylor PW, Parmer RJ. Heredity and the autonomic nervous system in human hypertension. Curr Hypertens Rep. 2000;2:16-22.
40. Lillie EO, O'Connor DT. Early phenotypic changes in hypertension: a role for the autonomic nervous system and heredity. Hypertension. 2006;47:331-333.
41. Kraft P, Hunter D. Integrating epidemiology and genetic association: the challenge of gene-environment interaction. Philos Trans R Soc Lond B Biol Sci. 2005;360:1609-1616.
42. Imumorin IG, Dong Y, Zhu H, Poole JC, Harshfield GA, Treiber FA, Snieder H. A gene-environment interaction model of stress-induced hypertension. Cardiovasc Toxicol. 2005;5:109-132.
43. Kennedy BP, Rao F, Botiglieri T, Sharma S, Lillie EO, Ziegler MG, O'Connor DT. Contributions of the sympathetic nervous system, glutathione, body mass and gender to blood pressure increase with normal aging: influence of heredity. J Hum Hypertens. 2005;19:951-969.
44. King D, Etzel JP, Chopra S, Smith J, Cadman PE, Rao F, Funk SD, Rana BK, Schork NJ, Insel PA, O'Connor DT. Human response to alpha2-adrenergic agonist stimulation studied in an isolated vascular bed in vivo: biphasic influence of dose, age, gender, and receptor genotype. Clin Pharmacol Ther. 2005;77:388-403.
45. Zaitlen NA, Kang HM, Feolo ML, Sherry ST, Halperin E, Eskin E. Inference and analysis of haplotypes from combined genotyping studies deposited in dbSNP. Genome Res. 2005;15:1594-1600.
46. Zaykin DV, Westfall PH, Young SS, Karnoub MA, Wagner MJ, Ehm MG. Testing association of statistically inferred haplotypes with discrete and continuous traits in samples of unrelated individuals. Hum Hered. 2002;53:79-91.
47. Stram DO, Leigh Pearce C, Bretsky P, Freedman M, Hirschhorn JN, Altshuler D, Kolonel LN, Henderson BE, Thomas DC. Modeling and E-M estimation of haplotype-specific relative risks from genotype data for a case-control study of unrelated individuals. Hum Hered. 2003;55:179-190.
48. Knowler WC, Williams RC, Pettitt DJ, Steinberg AG. Gm3;5,13,14 and type 2 diabetes mellitus: an association in American Indians with genetic admixture. Am J Hum Genet. 1988;43:520-526.