title: Association analysis of tissue inhibitor of metalloproteinase2 gene polymorphisms with COPD in Egyptians.
abstract: Proteinase/antiproteinase imbalance is recognized to play an important role in the pathogenesis of chronic obstructive pulmonary disease (COPD). A relative increase in the activities of matrix metalloproteinases might be caused by mutations of tissue inhibitor of metalloproteinase2 (TIMP2). Recently, two polymorphisms of the TIMP2 gene, +853 G/A and -418 G/C (+551 and -720 from the translation initiation site), have been shown to be associated with the development of COPD in the Japanese population. In this study, a case-control association analysis for these polymorphisms was conducted in the Egyptian population using 106 COPD patients and 72 healthy controls. The genotype frequency of +853 G/A was significantly different between the patient and the control groups (P = 0.029), although no significant difference was detected in the allele frequency between the two groups. These results suggest that the +853 G/A polymorphism of the TIMP2 gene might be associated with COPD across ethnicities. In contrast, neither the distributions of genotype nor allele frequencies of -418 G/C were significantly different between the two groups, raising the possibility that a combination of different genetic factors contributes to the development of COPD in different ethnic groups.
authors.affiliation: Department of Pulmonary Medicine, Institute of Clinical Medicine, University of Tsukuba, 1-1-1 Tennoudai, Tsukuba, Ibaraki 305-8575, Japan.
authors.forename: A E
authors.initials: AE
authors.lastname: Hegab
authors.forename: T
authors.initials: T
authors.lastname: Sakamoto
authors.forename: Y
authors.initials: Y
authors.lastname: Uchida
authors.forename: A
authors.initials: A
authors.lastname: Nomura
authors.forename: Y
authors.initials: Y
authors.lastname: Ishii
authors.forename: Y
authors.initials: Y
authors.lastname: Morishima
authors.forename: M
authors.initials: M
authors.lastname: Mochizuki
authors.forename: T
authors.initials: T
authors.lastname: Kimura
authors.forename: W
authors.initials: W
authors.lastname: Saitoh
authors.forename: T
authors.initials: T
authors.lastname: Kiwamoto
authors.forename: T
authors.initials: T
authors.lastname: Iizuka
authors.forename: H H
authors.initials: HH
authors.lastname: Massoud
authors.forename: H M
authors.initials: HM
authors.lastname: Massoud
authors.forename: K M
authors.initials: KM
authors.lastname: Hassanein
authors.forename: K
authors.initials: K
authors.lastname: Sekizawa
mesh_terms: D016022:Case-Control Studies; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D011110:Polymorphism, Genetic; D029424:Pulmonary Disease, Chronic Obstructive / Q000201:enzymology / Q000235:genetics*; D019716:Tissue Inhibitor of Metalloproteinase-2 / Q000235:genetics*
chemical_list: D019716:Tissue Inhibitor of Metalloproteinase-2