메뉴 건너뛰기




Volumn 77, Issue 5, 2013, Pages 409-415

Phenotype versus genotype methods for copy number variant analysis of glutathione s-transferases M1

Author keywords

CNV; Deletion polymorphism; Ethnicity; GSTM1

Indexed keywords

GLUTATHIONE TRANSFERASE M1;

EID: 84892972809     PISSN: 00034800     EISSN: 14691809     Source Type: Journal    
DOI: 10.1111/ahg.12025     Document Type: Article
Times cited : (6)

References (36)
  • 1
    • 84975742565 scopus 로고    scopus 로고
    • A map of human genome variation from population scale sequencing
    • 1000 Genomes project consortium.
    • 1000 Genomes project consortium. (2010) A map of human genome variation from population scale sequencing. Nature 467, 1061-1073.
    • (2010) Nature , vol.467 , pp. 1061-1073
  • 2
    • 33747179265 scopus 로고    scopus 로고
    • Relevance of the deletion polymorphisms of the glutathione S-transferases GSTT1 and GSTM1 in pharmacology and toxicology
    • Bolt, H. M. & Their, R. (2006) Relevance of the deletion polymorphisms of the glutathione S-transferases GSTT1 and GSTM1 in pharmacology and toxicology. Curr Drug Metab 7, 613-628.
    • (2006) Curr Drug Metab , vol.7 , pp. 613-628
    • Bolt, H.M.1    Their, R.2
  • 3
    • 36348941006 scopus 로고    scopus 로고
    • Multiplex PCR detection of GSTM1, GSTT1, and GSTP1 gene variants: Simultaneously detecting GSTM1 and GSTT1 gene copy number and the allelic status of the GSTP1 Ile105Val genetic variant
    • Buchard, A., Sanchez, J. J., Dalhoff, K. & Morling, N. (2007) Multiplex PCR detection of GSTM1, GSTT1, and GSTP1 gene variants: Simultaneously detecting GSTM1 and GSTT1 gene copy number and the allelic status of the GSTP1 Ile105Val genetic variant. J Mol Diagn 9, 612-617.
    • (2007) J Mol Diagn , vol.9 , pp. 612-617
    • Buchard, A.1    Sanchez, J.J.2    Dalhoff, K.3    Morling, N.4
  • 4
    • 84858217353 scopus 로고    scopus 로고
    • GSTT1 null genotype is a risk factor for diabetic retinopathy in Caucasians with type 2 diabetes, whereas GSTM1 null genotype might confer protection against retinopathy
    • Cilenšek, I., Mankoč, S., Petrovič, M. G. & Petrovič, D. (2012) GSTT1 null genotype is a risk factor for diabetic retinopathy in Caucasians with type 2 diabetes, whereas GSTM1 null genotype might confer protection against retinopathy. Dis Markers 32, 93- 99.
    • (2012) Dis Markers , vol.32 , pp. 93-99
    • Cilenšek, I.1    Mankoč, S.2    Petrovič, M.G.3    Petrovič, D.4
  • 5
    • 84855485046 scopus 로고    scopus 로고
    • Genetic response to an environmental pathogenic agent: HLA-DQ and onchocerciasis in northwestern Ecuador
    • De Angelis, F., Garzoli, A., Battistini, A., Iorio, A. & De Stefano, G. F. (2012) Genetic response to an environmental pathogenic agent: HLA-DQ and onchocerciasis in northwestern Ecuador. Tissue Antigens 79, 123-129.
    • (2012) Tissue Antigens , vol.79 , pp. 123-129
    • De Angelis, F.1    Garzoli, A.2    Battistini, A.3    Iorio, A.4    De Stefano, G.F.5
  • 8
    • 33746474688 scopus 로고    scopus 로고
    • Glutathione transferases in the genomics era: New insights and perspectives
    • Frova, C. (2006) Glutathione transferases in the genomics era: New insights and perspectives. Biomol Eng 23, 149-169.
    • (2006) Biomol Eng , vol.23 , pp. 149-169
    • Frova, C.1
  • 9
    • 0027431942 scopus 로고
    • Use of site-directed mutagenesis of allele-specific PCR primers to identify the GSTM1 A, GSTM1 B, GSTM1 A,B and GSTM1 null polymorphisms at the glutathione S-transferase, GSTM1 locus
    • Fryer, A. A., Zhao, L., Alldersea, J., Pearson, W. R. & Strange, R. C. (1993) Use of site-directed mutagenesis of allele-specific PCR primers to identify the GSTM1 A, GSTM1 B, GSTM1 A,B and GSTM1 null polymorphisms at the glutathione S-transferase, GSTM1 locus. Biochem J 295, 313-315.
    • (1993) Biochem J , vol.295 , pp. 313-315
    • Fryer, A.A.1    Zhao, L.2    Alldersea, J.3    Pearson, W.R.4    Strange, R.C.5
  • 16
    • 58149293053 scopus 로고    scopus 로고
    • Large allele frequency differences between human continental groups are more likely to have occurred by drift during range expansions than by selection
    • Hofer, T., Ray, N., Wegmann, D. & Excoffier, L. (2009) Large allele frequency differences between human continental groups are more likely to have occurred by drift during range expansions than by selection. Ann Hum Genet 73, 95-108.
    • (2009) Ann Hum Genet , vol.73 , pp. 95-108
    • Hofer, T.1    Ray, N.2    Wegmann, D.3    Excoffier, L.4
  • 17
    • 68149165614 scopus 로고    scopus 로고
    • Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm
    • Kumar, P., Henikoff, S. & Ng, P. C. 2009. Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm. Nat Protoc 4, 1073-1081.
    • (2009) Nat Protoc , vol.4 , pp. 1073-1081
    • Kumar, P.1    Henikoff, S.2    Ng, P.C.3
  • 19
    • 85027934890 scopus 로고    scopus 로고
    • Association of the C242T polymorphism in theNADPH oxidase p22 phox gene with carotid atherosclerosis in Slovenian patients with type 2 diabetes
    • Letonja, M. S., Nikolajevíc-Starčevíc, J., Batista, D. C., Osredkar, J. & Petrovič, D. (2012) Association of the C242T polymorphism in theNADPH oxidase p22 phox gene with carotid atherosclerosis in Slovenian patients with type 2 diabetes.Mol Biol Rep 39, 10121- 10130.
    • (2012) Mol Biol Rep , vol.39 , pp. 10121-10130
    • Letonja, M.S.1    Nikolajevíc-Starčevíc, J.2    Batista, D.C.3    Osredkar, J.4    Petrovič, D.5
  • 20
    • 0031456155 scopus 로고    scopus 로고
    • Characterization of a human glutathione S-transferase mu cluster containing a duplicated GSTM1 gene that causes ultrarapid enzyme activity
    • McLellan, R. A., Oscarson, M., Alexandrie, A. K., Seideg̊ard, J., Evans,D. A., Rannug, A. &Ingelman-Sundberg,M. (1997) Characterization of a human glutathione S-transferase mu cluster containing a duplicated GSTM1 gene that causes ultrarapid enzyme activity. Mol Pharmacol 52, 958-965.
    • (1997) Mol Pharmacol , vol.52 , pp. 958-965
    • McLellan, R.A.1    Oscarson, M.2    Alexandrie, A.K.3    Seideg̊ard, J.4    Evans, D.A.5    Rannug, A.6    Ingelman-Sundberg, M.7
  • 21
    • 79952074453 scopus 로고    scopus 로고
    • Xenobiotic metabolism, disposition, and regulation by receptors: From biochemical phenomenon to predictors of major toxicities
    • Omiecinski, C. J., Vanden Heuvel, J. P., Perdew, G. H. & Peters, J. M. (2011) Xenobiotic metabolism, disposition, and regulation by receptors: From biochemical phenomenon to predictors of major toxicities. Toxicol Sci S1, S49-75.
    • (2011) Toxicol Sci , vol.S1
    • Omiecinski, C.J.1    Vanden Heuvel, J.P.2    Perdew, G.H.3    Peters, J.M.4
  • 22
    • 0028231093 scopus 로고
    • Human glutathione S-transferase theta (GSTT1): cDNA cloning and the characterization of a genetic polymorphism
    • Pemble, S., Schroeder, K. R., Spencer, S. R., Meyer, D. J., Hallier, E., Bolt, H. M., Ketterer, B. & Taylor, J. B. (1994) Human glutathione S-transferase theta (GSTT1): cDNA cloning and the characterization of a genetic polymorphism. Biochem J 300, 271- 276.
    • (1994) Biochem J , vol.300 , pp. 271-276
    • Pemble, S.1    Schroeder, K.R.2    Spencer, S.R.3    Meyer, D.J.4    Hallier, E.5    Bolt, H.M.6    Ketterer, B.7    Taylor, J.B.8
  • 25
    • 84863321018 scopus 로고    scopus 로고
    • Lack of association between GSTM1, GSTP1, and GSTT1 gene polymorphisms and asthma in adult patients from Rome, central Italy
    • Piacentini, S., Polimanti, R., Moscatelli, B., Re,M. A., Manfellotto, D. & Fuciarelli, M. (2012b) Lack of association between GSTM1, GSTP1, and GSTT1 gene polymorphisms and asthma in adult patients from Rome, central Italy. J Investig Allergol Clin Immunol 22, 252-256.
    • (2012) J Investig Allergol Clin Immunol , vol.22 , pp. 252-256
    • Piacentini, S.1    Polimanti, R.2    Moscatelli, B.3    Re, M.A.4    Manfellotto, D.5    Fuciarelli, M.6
  • 27
    • 84878352583 scopus 로고    scopus 로고
    • GSTO2*N142D gene polymorphism associated with hypothyroidism in Italian patients
    • Piacentini, S., Monaci, P. M., Polimanti, R., Manfellotto, D. & Fuciarelli, M. (2013) GSTO2*N142D gene polymorphism associated with hypothyroidism in Italian patients. Mol Biol Rep 40, 1967-1971.
    • (2013) Mol Biol Rep , vol.40 , pp. 1967-1971
    • Piacentini, S.1    Monaci, P.M.2    Polimanti, R.3    Manfellotto, D.4    Fuciarelli, M.5
  • 28
    • 77953350070 scopus 로고    scopus 로고
    • Glutathione S-transferase ? class (GSTO) polymorphisms in a sample from Rome (Central Italy)
    • Polimanti, R., Piacentini, S., Porreca, F. & Fuciarelli, M. (2010) Glutathione S-transferase ? class (GSTO) polymorphisms in a sample from Rome (Central Italy). Ann Hum Biol 37, 585-592.
    • (2010) Ann Hum Biol , vol.37 , pp. 585-592
    • Polimanti, R.1    Piacentini, S.2    Porreca, F.3    Fuciarelli, M.4
  • 29
    • 80052734599 scopus 로고    scopus 로고
    • HapMap-based study of human soluble glutathione S-transferase enzymes: The role of natural selection in shaping the single nucleotide polymorphism diversity of xenobiotic-metabolizing genes
    • Polimanti, R., Piacentini, S. & Fuciarelli,M. (2011a) HapMap-based study of human soluble glutathione S-transferase enzymes: The role of natural selection in shaping the single nucleotide polymorphism diversity of xenobiotic-metabolizing genes. Pharmacogenet Genomics 21, 665-672.
    • (2011) Pharmacogenet Genomics , vol.21 , pp. 665-672
    • Polimanti, R.1    Piacentini, S.2    Fuciarelli, M.3
  • 30
    • 80052693346 scopus 로고    scopus 로고
    • Human GST loci as markers of evolutionary forces: GSTO1*E155del and GSTO1*E208K polymorphisms may be under natural selection induced by environmental arsenic
    • Polimanti, R., Piacentini, S., De Angelis, F., De Stefano, G. F. & Fuciarelli, M. (2011b) Human GST loci as markers of evolutionary forces: GSTO1*E155del and GSTO1*E208K polymorphisms may be under natural selection induced by environmental arsenic. Dis Markers 31, 231-239.
    • (2011) Dis Markers , vol.31 , pp. 231-239
    • Polimanti, R.1    Piacentini, S.2    De Angelis, F.3    De Stefano, G.F.4    Fuciarelli, M.5
  • 31
    • 84857391068 scopus 로고    scopus 로고
    • Glutathione S-transferase variants as risk factor for essential hypertension in Italian patients
    • Polimanti, R., Piacentini, S., Lazzarin, N., Re, M. A., Manfellotto, D. & Fuciarelli, M. (2011c) Glutathione S-transferase variants as risk factor for essential hypertension in Italian patients. Mol Cell Biochem 357, 227-233.
    • (2011) Mol Cell Biochem , vol.357 , pp. 227-233
    • Polimanti, R.1    Piacentini, S.2    Lazzarin, N.3    Re, M.A.4    Manfellotto, D.5    Fuciarelli, M.6
  • 33
    • 84868622293 scopus 로고    scopus 로고
    • Genetic variability of glutathione S-transferase enzymes in human populations: Functional inter-ethnic differences in detoxification systems
    • Polimanti, R., Carboni, C., Baesso, I., Piacentini, S., Iorio, A., De Stefano, G. F. & Fuciarelli, M. (2013) Genetic variability of glutathione S-transferase enzymes in human populations: Functional inter-ethnic differences in detoxification systems. Gene 512, 102- 107.
    • (2013) Gene , vol.512 , pp. 102-107
    • Polimanti, R.1    Carboni, C.2    Baesso, I.3    Piacentini, S.4    Iorio, A.5    De Stefano, G.F.6    Fuciarelli, M.7
  • 34
    • 0036713510 scopus 로고    scopus 로고
    • Human nonsynonymous SNPs: Server and survey
    • Ramensky, V., Bork, P. & Sunyaev, S. (2002) Human nonsynonymous SNPs: Server and survey. Nucleic Acids Res 30, 3894- 3900.
    • (2002) Nucleic Acids Res , vol.30 , pp. 3894-3900
    • Ramensky, V.1    Bork, P.2    Sunyaev, S.3
  • 35
    • 0037772635 scopus 로고    scopus 로고
    • Markers of genetic susceptibility in human environmental hygiene and toxicology: The role of selected CYP, NAT and GST genes
    • Thier, R., Br̈uning, T., Roos, P. H., Rihs, H. P., Golka, K., Ko, Y. & Bolt, H. M. (2003) Markers of genetic susceptibility in human environmental hygiene and toxicology: The role of selected CYP, NAT and GST genes. Int J Hyg Environ Health 206, 149-171.
    • (2003) Int J Hyg Environ Health , vol.206 , pp. 149-171
    • Thier, R.1    Br̈uning, T.2    Roos, P.H.3    Rihs, H.P.4    Golka, K.5    Ko, Y.6    Bolt, H.M.7
  • 36
    • 35348923543 scopus 로고    scopus 로고
    • Deleterious mutations can surf to high densities on the wave front of an expanding population
    • Travis, J. M., M̈unkem̈uller, T., Burton, O. J., Best, A., Dytham, C. & Johst, K. (2007) Deleterious mutations can surf to high densities on the wave front of an expanding population.Mol Biol Evol 24, 2334-2343.
    • (2007) Mol Biol Evol , vol.24 , pp. 2334-2343
    • Travis, J.M.1    M̈unkem̈uller, T.2    Burton, O.J.3    Best, A.4    Dytham, C.5    Johst, K.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.