Association study of two steroid biosynthesis genes (COMT and CYP17) with Alzheimer's disease in the Italian population

Journal of the Neurological Sciences

Volumn 344, Issue 1-2, 2014, Pages 149-153

  Corbo, Rosa Maria ^a,c   Gambina, Giuseppe ^b   Broggio, Elisabetta ^b   Scarabino, Daniela ^c   Scacchi, Renato ^a  

^a SAPIENZA UNIVERSITY OF ROME   (Italy)

^b UNIVERSITY HOSPITAL OF VERONA   (Italy)

^c CNR Institute of Cellular Biology and Neurobiology   (Italy)

Author keywords

Alzheimer's disease; COMT; CYP17; Estrogen; Genetic association

Indexed keywords

CATECHOL METHYLTRANSFERASE; CYTOCHROME P450 17; APOLIPOPROTEIN E; COMT PROTEIN, HUMAN; STEROID 17ALPHA MONOOXYGENASE;

ADULT; AGED; ALLELE; ALZHEIMER DISEASE; ARTICLE; CASE CONTROL STUDY; COGNITIVE DEFECT; COMT GENE; CONTROLLED STUDY; CORRELATION ANALYSIS; CYP17 GENE; DISEASE DURATION; DISEASE SEVERITY; ESTROGEN METABOLISM; ESTROGEN SYNTHESIS; FEMALE; GENE; GENE FREQUENCY; GENETIC ASSOCIATION; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; GENOTYPE; HIGH RISK PATIENT; HUMAN; ITALIAN (CITIZEN); MAJOR CLINICAL STUDY; MALE; ONSET AGE; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; ANALYSIS OF VARIANCE; COMPLICATION; GENETIC PREDISPOSITION; GENETICS; ITALY; MENTAL HEALTH; VERY ELDERLY;

AGE OF ONSET; AGED; AGED, 80 AND OVER; ALZHEIMER DISEASE; ANALYSIS OF VARIANCE; APOLIPOPROTEINS E; CATECHOL O-METHYLTRANSFERASE; COGNITION DISORDERS; FEMALE; GENE FREQUENCY; GENETIC ASSOCIATION STUDIES; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HUMANS; ITALY; MALE; MENTAL STATUS SCHEDULE; POLYMORPHISM, SINGLE NUCLEOTIDE; STEROID 17-ALPHA-HYDROXYLASE;

EID: 84906793982     PISSN: 0022510X     EISSN: 18785883     Source Type: Journal    
DOI: 10.1016/j.jns.2014.06.045     Document Type: Article

References (38)

1. A.M. Saunders, W.J. Strittmatter, and D. Schmechel et al. Association of apolipoprotein E allele epsilon 4 with late-onset familial and sporadic Alzheimer's disease Neurology 43 1993 467 472
2. H. Payami, S. Zareparsi, and K.R. Montee et al. Gender difference in apolipoprotein E-associated risk for familial Alzheimer disease: a possible clue to the higher incidence of Alzheimer disease in women Am J Hum Genet 58 1996 803 811
3. A. Paganini-Hill, and V.W. Henderson Estrogen deficiency and risk of Alzheimer's disease in women Am J Epidemiol 140 1994 256 261
4. C.J. Pike, J.C. Carroll, E.R. Rosario, and A.M. Barron Protective actions of sex steroid hormones in Alzheimer's disease Front Neuroendocrinol 30 2009 239 258
5. L.M. Garcia-Segura, I. Azcoitia, and L.L. DonCarlos Neuroprotection by estradiol Prog Neurobiol 63 2001 29 60
6. M.X. Tang, D. Jacobs, and Y. Stern et al. Effect of oestrogen during menopause on risk and age at onset of Alzheimer's disease Lancet 348 1996 429 432
7. H. Shao, J.C. Breitner, and R.A. Whitmer et al. Hormone therapy and Alzheimer disease dementia: new findings from the Cache County Study Neurology 79 2012 1846 1852
8. C. Worda, M.O. Sator, and C. Schneeberger et al. Influence of the catechol-O-methyltransferase (COMT) codon 158 polymorphism on estrogen levels in women Hum Reprod 18 2003 262 266
9. H.S. Feigelson, R. McKean-Cowdin, and G.A. Coetzee et al. Building a multigenic model of breast cancer susceptibility: CYP17 and HSD17B1 are two important candidates Cancer Res 61 2001 785 789
10. M.P. Thomas, and B.V. Potter The structural biology of oestrogen metabolism J Steroid Biochem Mol Biol 137 2013 27 49
11. H.M. Lachman, B. Morrow, and R. Shprintzen 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
12. R.J. Hung, P. Boffetta, and P. Brennan et al. Genetic polymorphisms of MPO, COMT, MnSOD, NQO1, interactions with environmental exposures and bladder cancer risk Carcinogenesis 25 2004 973 978
13. S.N. Silva, M.N. Cabral, and G. BezerradeCastro et al. Breast cancer risk and polymorphisms in genes involved in metabolism of estrogens (CYP17, HSD17beta1, COMT and MnSOD): possible protective role of MnSOD gene polymorphism Val/Ala and Ala/Ala in women that never breast fed Oncol Rep 16 2006 781 788
14. J. Xu, X. Lin, and H. Zhu et al. Genetic variation of the CYP17 and susceptibility to endometrial cancer: a meta-analysis Mol Biol Rep 40 2013 5085 5091
15. B. Borroni, C. Agosti, and S. Archetti et al. Catechol-O- methyltransferase gene polymorphism is associated with risk of psychosis in Alzheimer Disease Neurosci Lett 370 2004 127 129
16. D.A. Forero, B. Benítez, and G. Arboleda et al. Analysis of functional polymorphisms in three synaptic plasticity-related genes (BDNF, COMT AND UCHL1) in Alzheimer's disease in Colombia Neurosci Res 55 2006 334 341
17. C. Lanni, G. Garbin, and A. Lisa et al. Influence of COMT Val158Met polymorphism on Alzheimer's disease and mild cognitive impairment in Italian patients J Alzheimers Dis 32 2012 919 926
18. M.F. Martínez, X.E. Martín, and L.G. Alcelay et al. The COMT Val158 Met polymorphism as an associated risk factor for Alzheimer disease and mild cognitive impairment in APOE 4 carriers BMC Neurosci 10 2009 125
19. P.N. Wang, H.C. Liu, and T.Y. Liu et al. Estrogen-metabolizing gene COMT polymorphism synergistic APOE epsilon4 allele increases the risk of Alzheimer disease Dement Geriatr Cogn Disord 19 2005 120 125
20. C. Chace, D. Pang, and C. Weng et al. Variants in CYP17 and CYP19 cytochrome P450 genes are associated with onset of Alzheimer's disease in women with down syndrome J Alzheimers Dis 28 2012 601 612
21. American Psychiatric Association Diagnostic and Statistical Manual of Mental Disorders. 4th ed. (revised) Washington DC 1994
22. G. McKhann, D. Drachman, and M. Folstein et al. Clinical diagnosis of Alzheimer's disease: report of the NINCDS-ADRDA Work Group under the auspices of Department of Health and Human Services Task Force on Alzheimer's disease Neurology 34 1984 939 944
23. M.F. Folstein, S.E. Folstein, and P.R. McHugh "Mini-mental state". A practical method for grading the cognitive state of patients for the clinician J Psychiatr Res 12 1975 189 198
24. S.A. Miller, D.D. Dykes, and H.F. Polesky A simple salting out procedure for extracting DNA from human nucleated cells Nucleic Acids Res 16 1988 1215
25. J.A. Lavigne, K.J. Helzlsouer, and H.Y. Huang et al. An association between the allele coding for a low activity variant of catechol-O- methyltransferase and the risk for breast cancer Cancer Res 57 1997 5493 5497
26. G. Jasienska, M. Kapiszewska, and P.T. Ellison et al. CYP17 genotypes differ in salivary 17-beta estradiol levels: a study based on hormonal profiles from entire menstrual cycles Cancer Epidemiol Biomarkers Prev 15 2006 2131 2135
27. R. Scacchi, M. Ruggeri, and G. Gambina et al. Plasma alpha1- antichymotrypsin in Alzheimer's disease; relationships with APOE genotypes Neurobiol Aging 22 2001 413 416
28. W.D. Dupont, and W.D. Plummer PS power and sample size program available for free on the Internet Control Clin Trials 18 1997 274
29. M.I. Kamboh, R.L. Minster, E. Feingold, and S.T. DeKosky Genetic association of ubiquilin with Alzheimer's disease and related quantitative measures Mol Psychiatry 11 2006 273 279
30. J. Cohen A power primer Psychol Bull 112 1992 155 159
31. Y. Xing, J.P. Jia, X.J. Ji, and T. Tian Estrogen associated gene polymorphisms and their interactions in the progress of Alzheimer's disease Prog Neurobiol 111 2013 53 74
32. Y.H. Lee, and G.G. Song COMT Val158Met and PPARγ Pro12Ala polymorphisms and susceptibility to Alzheimer's disease: a meta-analysis Neurol Sci 35 2014 643 651
33. X. Xu, Y. Wang, and L. Wang et al. Meta-analyses of 8 polymorphisms associated with the risk of the Alzheimer's disease PLoS One 8 2013 e73129 10.1371/journal.pone.0073129
34. N. Ertekin-Taner Genetics of Alzheimer disease in the pre- and post-GWAS era Alzheimers Res Ther 2 2010 3
35. J.C. Lambert, C.A. Ibrahim-Verbaas, and D. Harold et al. Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease Nat Genet 45 2013 1452 1458
36. J.H. Barnett, L. Scoriels, and M.R. Munafò Meta-analysis of the cognitive effects of the catechol-O-methyltransferase gene Val158/108Met polymorphism Biol Psychiatry 64 2008 137 144
37. R.S. Vest, and C.J. Pike Gender, sex steroid hormones, and Alzheimer's disease Horm Behav 63 2013 301 307
38. C.A. Haiman, S.E. Hankinson, and D. Spiegelman et al. The relationship between a polymorphism in CYP17 with plasma hormone levels and breast cancer Cancer Res 59 1999 1015 1020