Global variation in the frequencies of functionally different catechol-O-methyltransferase alleles

Biological Psychiatry

Volumn 46, Issue 4, 1999, Pages 557-567

  Palmatier, Meg A ^a   Kang, A Min ^b   Kidd, Kenneth K ^a  

^a YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b YALE UNIVERSITY   (United States)

Author keywords

Ancestral allele; Catechol O methyltransferase; COMT; Enzyme activity; Global variation; Polymorphism

Indexed keywords

CATECHOL METHYLTRANSFERASE;

ADULT; ARTICLE; CONTROLLED STUDY; ENZYME ACTIVITY; ETHNIC DIFFERENCE; FEMALE; GENE FREQUENCY; GENE LINKAGE DISEQUILIBRIUM; GENOTYPE; HUMAN; MAJOR CLINICAL STUDY; MALE; NEUROLOGIC DISEASE; POLYMERASE CHAIN REACTION; POPULATION; PRIORITY JOURNAL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM;

EID: 0032777995     PISSN: 00063223     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0006-3223(99)00098-0     Document Type: Article

References (50)

1. Bertocci B., Miggiano V., Da Prada M., Dembic Z., Lahm H.W., Malherbe P. Human catechol-O-methyltransferase Cloning and expression of the membrane-associated form . Proc Natl Acad Sci U S A. 88:1991;1416-1420.
2. Bowcock A.M., Kidd J.R., Mountain J.L., Hebert J.M., Carotenuto L., Kidd K.K., et al. Drift, admixture, and selection in human evolution A study with DNA polymorphisms . Proc Natl Acad Sci U S A. 88:1991;839-843.
3. Calafell F., Shuster A., Speed W., Kidd J., Kidd K. Short tandem repeat polymorphism evolution in humans. Eur J Hum Genet. 6:1998;38-49.
4. Castiglione C.M., Dienard A.S., Speed W.C., Sirugo G., Rosenbaum H.C., Zhang Z., et al. Evolution of haplotypes at the DRD2 locus. Am J Hum Genet. 57:1995;1445-1456.
5. Cavalli-Sforza L.L., Menozzi P., Piazza A. The History and Geography of Human Genes. 1994;Princeton University Press, Princeton.
6. Chen C.H., Lee Y.R., Wei F.C., Koong F.J., Hwu H.G., Hsiao K.J. Association study of NlaIII and MspI genetic polymorphisms of catechol-O-methyltransferase gene and susceptibility to schizophrenia. Biol Psychiatry. 41:1997;985-987.
7. Cooper J.R., Bloom F.E., Roth R.H. The Biochemical Basis of Neuropharmacology. 7th ed. 1996;Oxford University Press, New York.
8. Craddock N., Spurlock G., McGuffin P., Owen M.J., Nostenbertrand M., Bellivier F., et al. No association between bipolar disorder and alleles at a functional polymorphism in the COMT gene - Biomed European Bipolar Collaborative Group. British Journal of Psychiatry. 170:1997;526-528.
9. Daniels J.K., Williams N.M., Williams J., Jones L.A., Cardno A.G., Murphy K.C., et al. No evidence for allelic association between schizophrenia and a polymorphism determining high or low catechol-O-methyltransferase activity. Am J Psychiatry. 153:1996;268-270.
10. Goldstein J.L., Brown M.S. The clinical investigator Bewitched, bothered, and bewildered - but still beloved . J Clin Invest. 99:1997;2803-2812.
11. Grossman M.H., Emanuel B.S., Budarf M.L. Chromosomal mapping of the human catechol-O-methyltransferase gene to 22q11.1-q11.2. Genomics. 12:1992;822-825.
12. Gutierrez B., Bertranpetit J., Guillamat R., Valles V., Arranz M.J., Kerwin R., et al. Association analysis of the catechol O-methyltransferase gene and bipolar affective disorder. Am J Psychiatry. 154:1997;113-115.
13. Hartl D.L., Clark A.G. Principles of Population Genetics. 3rd ed. 1997;Sinauer Associates, Inc, Sunderland, MA, USA.
14. Hoda F., Nicholl D., Bennett P., Arranz M., Aitchison K.J., al-Chalabi A., et al. No association between Parkinson's disease and low-activity alleles of catechol-O-methyltransferase. Biochem Biophys Res Commun. 228:1996;780-784.
15. Karayiorgou M., Altemus M., Galke B.L., Goldman D., Murphy D.L., Ott J., et al. Genotype determining low catechol-O-methyltransferase activity as a risk factor for obsessive-compulsive disorder. Proc Natl Acad Sci U S A. 94:1997;4572-4575.
16. Karayiorgou M., Gogos J.A., Galke B.L., Wolyniec P.S., Nestadt G., Antonarakis S.E., et al. Identification of sequence variants and analysis of the role of the catechol-O-methyl-transferase gene in schizophrenia susceptibility. Biol Psychiatry. 43:1998;425-431.
17. Kennedy G., German M., Rutter W. The minisatellite in the diabetes susceptibility locus IDDM2 regulates insulin transcription. Nature Genetics. 9:1995;293-298.
18. Kidd K. Associations of disease with genetic markers Deja vu all over again . Am J Med Genet. 48:1993;71-73.
19. Kidd K.K., Kidd J.R. A nuclear perspective on human evolution. Boyce A.J., Mascie-Taylor C.G.N. Molecular Biology and Human Diversity. 1996;242-264 Cambridge University Press, Cambridge.
20. Kidd J.R., Kidd K.K. Autosomal DNA haplotype diversity within and among Amerind-speaking populations. Am J Phys Anthro-Suppl. 28:1999;168.
21. Kidd J., Pakstis A., Kidd K. Global levels of DNA variation. Proceedings from the Fourth International Symposium on Human Identification. 1993;21-30 Promega Corp, Madison, WI.
22. Klemetsdal B., Straume B., Giverhaug T., Aarbakke J. Low catechol-O-methyltransferase activity in a Saami population. Eur J Clin Pharmacol. 46:1994;231-235.
23. Kunugi H., Nanko S., Ueki A., Otsuka E., Hattori M., Hoda F., et al. High and low activity alleles of catechol-O-methyltransferase gene Ethnic difference and possible association with Parkinson's disease . Neurosci Lett. 221:1997;202-204.
24. Kunugi H., Vallada H.P., Hoda F., Kirov G., Gill M., Aitchison K.J., et al. No evidence for an association of affective disorders with high- or low-activity allele of catechol-O-methyltransferase gene. Biol Psychiatry. 42:1997;282-285.
25. Lachman H.M., Kelsoe J., Moreno L., Katz S., Papolos D.F. Lack of association of catechol-O-methyltransferase (COMT) functional polymorphism in bipolar affective disorder. Psychiatr Genet. 7:1997;13-17.
26. Lachman H.M., Morrow B., Shprintzen R., Veit S., Parsia S.S., Faedda G., et al. Association of codon 108/158 catechol-O-methyltransferase gene polymorphism with the psychiatric manifestations of velo-cardio-facial syndrome. Am J Med Genet. 67:1996;468-472.
27. Lachman H.M., Nolan K., Mohr P., Saito T., Volavka J. Association between catechol-O-methyltransferase genotype and violence in schizophrenia and schizoaffective disorder. Am J Psychiatry. 155:1998;835-837.
28. Lachman H.M., Papolos D.F., Saito T., Yu Y.M., Szumlanski C.L., Weinshilboum R.M. Human catechol-O-methyltransferase pharmacogenetics Description of a functional polymorphism and its potential application to neuropsychiatric disorders . Pharmacogenetics. 6:1996;243-250.
29. Li T., Vallada H., Curtis D., Arranz M., Xu K., Cai G., et al. Catechol-O-methyltransferase Val158Met polymorphism Frequency analysis in Han Chinese subjects and allelic association of the low activity allele with bipolar affective disorder . Pharmacogenetics. 7:1997;349-353.
30. Lotta T., Vidgren J., Tilgmann C., Ulmanen I., Melen K., Julkunen I., et al. Kinetics of human soluble and membrane-bound catechol-O-methyltransferase A revised mechanism and description of the thermolabile variant of the enzyme . Biochem. 34:1995;4202-4210.
31. Lundstrom K., Salminen M., Jalanko A., Savolainen R., Ulmanen I. Cloning and characterization of human placental catechol-O-methyltransferase cDNA. DNA Cell Biol. 10:1991;181-189.
32. Lundstrom K., Tenhunen J., Tilgmann C., Karhunen T., Panula P., Ulmanen I. Cloning, expression and structure of catechol-O-methyltransferase. Biochim Biophys Acta. 1251:1995;1-10.
33. Malherbe P., Bertocci B., Caspers P., Zurcher G., Da Prada M. Expression of functional membrane-bound and soluble catechol-O-methyltransferase in Escherichia coli and a mammalian cell line. J Neurochem. 58:1992;1782-1789.
34. McLeod H.L., Fang L., Luo X., Scott E.P., Evans W.E. Ethnic differences in erythrocyte catechol-O-methyltransferase activity in black and white Americans. J Pharmacol Exp Ther. 270:1994;26-29.
35. Ohara K., Nagai M., Suzuki Y., Ohara K. Low activity allele of catechol-O-methyltransferase gene and Japanese unipolar depression. Neuroreport. 9:1998;1305-1308.
36. Ohmori O., Shinkai T., Kojima H., Terao T., Suzuki T., Mita T., et al. Association study of a functional catechol-O-methyltransferase gene polymorphism in Japanese schizophrenics. Neurosci Lett. 243:1998;109-112.
37. Pakstis A.J., Carter A., Castiglione C.M., Speed W.C., Ogura T., Kidd J.R., et al. At the HOXBα-NGFR loci, the relationship between linkage disequilibrium and physical distance varies across human populations. Am J Hum Genet-Suppl. 61:1997;79.
38. Poduslo S., Riggs D., Schwankhaus J., Osborne A., Crawford F., Mullan M. Association of apolipoprotein E but not B with Alzheimer's disease. Hum Genet. 96:1995;597-600.
39. Rivera-Calimlim L., Reilly D.K. Difference in erythrocyte catechol-O-methyltransferase activity between Orientals and Caucasians Difference in levodopa tolerance . Clin Pharmacol Ther. 35:1984;804-809.
40. Rogers A.R., Jorde L.B. Ascertainment bias in estimates of average heterozygosity. Am J Hum Genet. 58:1996;1033-1041.
41. Strous R.D., Bark N., Woerner M., Lachman H.M. Lack of association of a functional catechol-O-methyltransferase gene polymorphism in schizophrenia. Biol Psychiatry. 41:1997;493-495.
42. Syvanen A.C., Tilgmann C., Rinne J., Ulmanen I. Genetic polymorphism of catechol-O-methyltransferase (COMT) Correlation of genotype with individual variation of S-COMT activity and comparison of the allele frequencies in the normal population and parkinsonian patients in Finland . Pharmacogenetics. 7:1997;65-71.
43. Tenhunen J., Salminen M., Lundstrom K., Kiviluoto T., Savolainen R., Ulmanen I. Genomic organization of the human catechol O-methyltransferase gene and its expression from two distinct promoters. Eur J Biochem. 223:1994;1049-1059.
44. Tishkoff S.A., Dietzsch E., Speed W., Pakstis W.C., Kidd J.R., Cheung K., et al. Global patterns of linkage disequilibrium at the CD4 locus and modern human origins. Science. 271:1996;1380-1387.
45. Vandenbergh D.J., Rodriguez L.A., Miller I.T., Uhl G.R., Lachman H.M. High-activity catechol-O-methyltransferase allele is more prevalent in polysubstance abusers. Am J Med Genet. 74:1997;439-442.
46. Weinshilboum R.M. Human biochemical genetics of plasma dopamine-beta-hydroxylase and erythrocyte catechol-O-methyltransferase. Hum Genet Suppl. 1:1978;101-112.
47. Weinshilboum R.M., Raymond F.A. Inheritance of low erythrocyte catechol-O-methyltransferase activity in man. Am J Hum Genet. 29:1977;125-135.
48. Winqvist R., Lundstrom K., Salminen M., Laatikainen M., Ulmanen I. The human catechol-O-methyltransferase (COMT) gene maps to band q11.2 of chromosome 22 and shows a frequent RFLP with BglI. Cytogenet Cell Genet. 59:1992;253-257.
49. Wright S. Evolution and the Genetics of Populations The Theory of Gene Frequencies . vol 2:1969;The University of Chicago Press, Chicago.
50. 1947 polymorphism in catechol-O-methyltransferase (COMT) gene in Parkinson's disease. Mov Disord. 12:1997;426-427.