Tissue inhibitor of metalloproteinases-2 gene polymorphisms in chronic obstructive pulmonary disease - PubMed (original) (raw)
Tissue inhibitor of metalloproteinases-2 gene polymorphisms in chronic obstructive pulmonary disease
K Hirano et al. Eur Respir J. 2001 Nov.
Free article
Abstract
Proteinase/antiproteinase imbalance is the most widely accepted theory for development of chronic obstructive pulmonary disease (COPD). Mutations of tissue inhibitor of metalloproteinases-2 (TIMP-2) that downregulate its activity may increase the activities of matrix metalloproteinases and result in the degradation of the lung matrix. Polymorphisms of the TIMP-2 gene were investigated in 88 COPD patients and 40 control subjects. The variations were examined by single-strand conformational polymorphism analysis followed by sequencing. Two polymorphisms were identified, +853 GIA and -418 G/C nucleotide substitutions. There was a significant deviation in the genotypic frequencies at +853 and the allele frequencies for G were significantly higher in the COPD patient group than in the control group. For locus -418, the allele frequencies for C in the COPD patient group also tended to be higher than those in the control group. The +853 G/A nucleotide substitution was a silent variant. The -418 G/C substitution was located in the consensus sequence for the Sp1 binding site. These polymorphisms may be associated with the development of chronic obstructive pulmonary disease, decreasing the transcription and stability of the messenger ribonucleic acid, and available as genetic markers of susceptibility to the disease.
Comment in
- Genetics of COPD: present and future.
Hoidal JR. Hoidal JR. Eur Respir J. 2001 Nov;18(5):741-3. doi: 10.1183/09031936.01.00268501. Eur Respir J. 2001. PMID: 11757620 No abstract available.
Similar articles
- Association analysis of tissue inhibitor of metalloproteinase2 gene polymorphisms with COPD in Egyptians.
Hegab AE, Sakamoto T, Uchida Y, Nomura A, Ishii Y, Morishima Y, Mochizuki M, Kimura T, Saitoh W, Kiwamoto T, Iizuka T, Massoud HH, Massoud HM, Hassanein KM, Sekizawa K. Hegab AE, et al. Respir Med. 2005 Jan;99(1):107-10. doi: 10.1016/j.rmed.2004.05.017. Respir Med. 2005. PMID: 15672858 - MMP14 gene polymorphisms in chronic obstructive pulmonary disease.
Saitoh W, Sakamoto T, Hegab AE, Nomura A, Ishii Y, Morishima Y, Kai S, Iizuka T, Kiwamoto T, Matsuno Y, Massoud HH, Massoud HM, Hassanein KM, Sekizawa K. Saitoh W, et al. Int J Mol Med. 2006 Apr;17(4):621-6. Int J Mol Med. 2006. PMID: 16525718 - Matrix metalloproteinase 3 polymorphisms as a potential marker of enhanced susceptibility to lung cancer in chronic obstructive pulmonary disease subjects.
Brzóska K, Bartłomiejczyk T, Sochanowicz B, Cymerman M, Grudny J, Kołakowski J, Kapka-Skrzypczak L, Kruszewski M, Sliwiński P, Roszkowski-Śliż K. Brzóska K, et al. Ann Agric Environ Med. 2014;21(3):546-51. doi: 10.5604/12321966.1120599. Ann Agric Environ Med. 2014. PMID: 25292126 - What do polymorphisms tell us about the mechanisms of COPD?
Li Y, Cho MH, Zhou X. Li Y, et al. Clin Sci (Lond). 2017 Dec 4;131(24):2847-2863. doi: 10.1042/CS20160718. Print 2017 Dec 15. Clin Sci (Lond). 2017. PMID: 29203722 Review. - Metalloproteases/anti-metalloproteases imbalance in chronic obstructive pulmonary disease: genetic factors and treatment implications.
Mocchegiani E, Giacconi R, Costarelli L. Mocchegiani E, et al. Curr Opin Pulm Med. 2011 Dec;17 Suppl 1:S11-9. doi: 10.1097/01.mcp.0000410743.98087.12. Curr Opin Pulm Med. 2011. PMID: 22209925 Review.
Cited by
- Relationship of polymorphisms in the tissue inhibitor of metalloproteinase (TIMP)-1 and -2 genes with chronic heart failure.
Polina ER, Araújo RRCV, Sbruzzi RC, Biolo A, Rohde LE, Clausell N, Dos Santos KG. Polina ER, et al. Sci Rep. 2018 Jun 21;8(1):9446. doi: 10.1038/s41598-018-27857-5. Sci Rep. 2018. PMID: 29930267 Free PMC article. - Tuberculosis and lung damage: from epidemiology to pathophysiology.
Ravimohan S, Kornfeld H, Weissman D, Bisson GP. Ravimohan S, et al. Eur Respir Rev. 2018 Feb 28;27(147):170077. doi: 10.1183/16000617.0077-2017. Print 2018 Mar 31. Eur Respir Rev. 2018. PMID: 29491034 Free PMC article. Review. - Single-nucleotide polymorphisms of matrix metalloproteinases and their inhibitors in gastrointestinal cancer.
Langers AM, Verspaget HW, Hommes DW, Sier CF. Langers AM, et al. World J Gastrointest Oncol. 2011 Jun 15;3(6):79-98. doi: 10.4251/wjgo.v3.i6.79. World J Gastrointest Oncol. 2011. PMID: 21731908 Free PMC article. - Unveiling TIMPs: A Systematic Review of Their Role as Biomarkers in Atherosclerosis and Coronary Artery Disease.
Aminuddin A, Samah N, Vijakumaran U, Che Roos NA, Nor FM, Wan Razali WMH, Mohamad SF, Cong BB, Hamzah FA, Hamid AA, Ugusman A. Aminuddin A, et al. Diseases. 2024 Aug 2;12(8):177. doi: 10.3390/diseases12080177. Diseases. 2024. PMID: 39195176 Free PMC article. Review.
MeSH terms
Substances
LinkOut - more resources
Full Text Sources
Other Literature Sources
Medical
Research Materials
Miscellaneous