Cystic fibrosis transmembrane conductance regulator gene mutations and glutathione S-transferase null genotypes in cystic fibrosis patients in Brazil;Mutações do gene cystic fibrosis transmembrane conductance regulator e deleções dos genes glutationa S-transferase em pacientes com fibrose cística no Brasil

Jornal Brasileiro de Pneumologia

Volumn 38, Issue 1, 2012, Pages 50-56

  Lima, Carmen Silvia Passos ^a   Ortega, Manoela Marques ^a   Marson, Fernando Augusto Lima ^a   Zulli, Roberto ^a   Ribeiro, Antônio Fernando ^a   Bertuzzo, Carmen Silvia ^a  

^a UNIVERSITY OF CAMPINAS   (Brazil)

Author keywords

Cystic fibrosis; Cystic fibrosis transmembrane conductance regulator; Glutathione transferase

Indexed keywords

GLUTATHIONE S-TRANSFERASE M1; GLUTATHIONE S-TRANSFERASE T1; GLUTATHIONE TRANSFERASE; GLUTATHIONE TRANSFERASE M1; GLUTATHIONE TRANSFERASE T1; TRANSMEMBRANE CONDUCTANCE REGULATOR;

ARTICLE; BRAZIL; CHI SQUARE DISTRIBUTION; CYSTIC FIBROSIS; FEMALE; GENE DELETION; GENETICS; GENOTYPE; HUMAN; INFANT; MALE; MUTATION; PRESCHOOL CHILD; STATISTICAL MODEL;

BRAZIL; CHI-SQUARE DISTRIBUTION; CHILD, PRESCHOOL; CYSTIC FIBROSIS; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; FEMALE; GENE DELETION; GENOTYPE; GLUTATHIONE TRANSFERASE; HUMANS; INFANT; LOGISTIC MODELS; MALE; MUTATION;

EID: 84858598463     PISSN: 18063713     EISSN: 18063756     Source Type: Journal    
DOI: 10.1590/S1806-37132012000100008     Document Type: Article

References (30)

1. Welsh MJ, Tsui LC, Boat TF, Beaudet AL. Cystic fibrosis. In: Scriver CR, Beaudet AL, Sly WS, Vall D, editors. The metabolic and molecular bases of inherited disease. New York: McGraw-Hill; 2001. p. 871-9.
2. Kristidis P, Bozon D, Corey M, Markiewicz D, Rommens J, Tsui LC, et al. Genetic determination of exocrine pancreatic function in cystic fibrosis. Am J Hum Genet. 1992;50(6):1178-84.
3. Zielenski J. Genotype and phenotype in cystic fibrosis. Respiration. 2000;67(2):117-33.
4. Naruse S, Kitagawa M, Ishiguro H, Fujiki K, Hayakawa T. Cystic fibrosis and related diseases of the pancreas. Best Pract Res Clin Gastroenterol. 2002;16(3):511-26.
5. Lee JH, Choi JH, Namkung W, Hanrahan JW, Chang J, Song SY, et al. A haplotype-based molecular analysis of CFTR mutations associated with respiratory and pancreatic diseases. Hum Mol Genet. 2003;12(18):2321-32.
6. Lester LA, Kraut J, Lloyd-Still J, Karrison T, Mott C, Billstrand C, et al. Delta F508 genotype does not predict disease severity in an ethnically diverse cystic fibrosis population. Pediatrics. 1994;93(1):114-8.
7. Slieker MG, Sanders EA, Rijkers GT, Ruven HJ, van der Ent CK. Disease modifying genes in cystic fibrosis. J Cyst Fibros. 2005;4 Suppl 2:7-13.
8. Collaco JM, Cutting GR. Update on gene modifiers in cystic fibrosis. Curr Opin Pulm Med. 2008;14(6):559-66.
9. Baranov VS, Ivaschenko T, Bakay B, Aseev M, Belotserkovskaya R, Baranova H, et al. Proportion of the GSTM1 0/0 genotype in some Slavic populations and its correlation with cystic fibrosis and some multifactorial diseases. Hum Genet. 1996;97(4):516-20.
10. Hull J, Thomson AH. Contribution of genetic factors other than CFTR to disease severity in cystic fibrosis. Thorax. 1998;53(12):1018-21.
11. Gilliland FD, Gauderman WJ, Vora H, Rappaport E, Dubeau L. Effects of glutathione-S-transferase M1, T1, and P1 on childhood lung function growth. Am J Respir Crit Care Med. 2002;166(5):710-6.
12. Flamant C, Henrion-Caude A, Boëlle PY, Brémont F, Brouard J, Delaisi B, et al. Glutathione-S-transferase M1, M3, P1 and T1 polymorphisms and severity of lung disease in children with cystic fibrosis. Pharmacogenetics. 2004;14(5):295-301.
13. Korytina GF, Iaibaeva DG, Viktorova TV. Polymorphism of glutathione-S-transferase M1 and P1 genes in patients with cystic fibrosis and chronic respiratory tract diseases [Article in Russian]. Genetika. 2004;40(3):401-8.
14. Hull J, Vervaart P, Grimwood K, Phelan P. Pulmonary oxidative stress response in young children with cystic fibrosis. Thorax. 1997;52(6):557-60.
15. Hengstler JG, Arand M, Herrero ME, Oesch F. Polymorphisms of N-acetyltransferases, glutathione S-transferases, microsomal epoxide hydrolase and sulfotransferases: influence on cancer susceptibility. Recent Results Cancer Res. 1998;154:47-85.
16. Alvarez AE, Ribeiro AF, Hessel G, Bertuzzo CS, Ribeiro JD. Cystic fibrosis at a Brazilian center of excellence: clinical and laboratory characteristics of 104 patients and their association with genotype and disease severity [Article in Portuguese]. J Pediatr (Rio J). 2004;80(5):371-9.
17. Gibson LE, Cooke RE. A test for concentration of electrolytes in sweat in cystic fibrosis of the pancreas utilizing pilocarpine by iontophoresis. Pediatrics. 1959;23(3):545-9.
18. Shwachman H, Kulczycki LL. Long-term study of one hundred five patients with cystic fibrosis; studies made over a five-to fourteen-year period. AMA J Dis Child. 1958;96(1):6-15.
19. Rommens J, Kerem BS, Greer W, Chang P, Tsui LC, Ray P. Rapid nonradioactive detection of the major cystic fibrosis mutation. Am J Hum Genet. 1990;46(2):395-6.
20. Tsui LC, Rommens J, Kerem B, Rozmahel R, Zielenski J, Kennedy D, et al. Molecular genetics of cystic fibrosis. Adv Exp Med Biol. 1991;290:9-17; discussion 17-8.
21. Arruda VR, Lima CS, Grignoli CR, de Melo MB, Lorand-Metze I, Alberto FL, et al. Increased risk for acute myeloid leukaemia in individuals with glutathione S-transferase mu 1 (GSTM1) and theta 1 (GSTT1) gene defects. Eur J Haematol. 2001;66(6):383-8.
22. Bernardino AL, Ferri A, Passos-Bueno MR, Kim CE, Nakaie CM, Gomes CE, et al. Molecular analysis in Brazilian cystic fibrosis patients reveals five novel mutations. Genet Test. 2000;4(1):69-74.
23. Okay TS, Oliveira WP, Raiz-Júnior R, Rodrigues JC, Del Negro GM. Frequency of the deltaF508 mutation in 108 cystic fibrosis patients in Sao Paulo: comparison with reported Brazilian data. Clinics (Sao Paulo). 2005;60(2):131-4.
24. Raskin S, Pereira-Ferrari L, Reis FC, Abreu F, Marostica P, Rozov T, et al. Incidence of cystic fibrosis in five different states of Brazil as determined by screening of p. F508del, mutation at the CFTR gene in newborns and patients. J Cyst Fibros. 2008;7(1):15-22.
25. Perone C, Medeiros GS, del Castillo DM, de Aguiar MJ, Januário JN. Frequency of 8 CFTR gene mutations in cystic fibrosis patients in Minas Gerais, Brazil, diagnosed by neonatal screening. Braz J Med Biol Res. 2010;43(2):134-8.
26. Alonso MJ, Heine-Suñer D, Calvo M, Rosell J, Giménez J, Ramos MD, et al. Spectrum of mutations in the CFTR gene in cystic fibrosis patients of Spanish ancestry. Ann Hum Genet. 2007;71(Pt 2):194-201.
27. Alibakhshi R, Kianishirazi R, Cassiman JJ, Zamani M, Cuppens H. Analysis of the CFTR gene in Iranian cystic fibrosis patients: identification of eight novel mutations. J Cyst Fibros. 2008;7(2):102-9.
28. Goloni-Bertollo EM, Rossit AR, Junior JB, Fett-Conte AC, Raskin S. CFTR molecular analysis reveals infrequent allele frequencies in nine cystic fibrosis patients from São Paulo State, Brazil. Hum Biol. 2003;75(3):393-8.
29. Hatagima A, Klautau-Guimarães MN, Silva FP, Cabello PH. Glutathione S-transferase M1 (GSTM1) polymorphism in two Brazilian populations. Genet Mol Biol. 2000;23(4):709-13.
30. Merlo CA, Boyle MP. Modifier genes in cystic fibrosis lung disease. J Lab Clin Med. 2003;141(4):237-41.