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The role of MMP-12 gene polymorphism - 82 A-to-G (rs2276109) in immunopathology of COPD in polish patients: a case control study
- Source :
- BMC Medical Genetics, BMC Medical Genetics, Vol 20, Iss 1, Pp 1-7 (2019)
- Publication Year :
- 2018
-
Abstract
- Background Major symptoms of chronic obstructive pulmonary disease (COPD) are chronic bronchitis and emphysema leading from lung tissue destruction, that is an effect of an imbalance between metalloproteinases (MMPs) and their tissue inhibitors activity. As potential factor involved in this COPD pathogenesis, MMP-12 is considered. We investigated the role of genetic polymorphism and protein level of MMP-12 in the COPD development among Poles. Methods We analyzed − 82 A > G SNP in the promoter region of MMP-12 gene (rs2276109) among 335 smoked COPD patients and 309 healthy individuals, including 110 smokers. Additionally, 60 COPD patients and 61 controls (23 smokers) were tested for serum levels of MMP-12 using ELISA. All subjects were analyzed for lung function using spirometry (FEV1% and FEV1/FVC parameters). Results We observed that -82G allele and -82GG homozygous genotype frequencies of the SNP rs2276109 were significantly lower in COPD patients than in controls (12.5% vs 16.9%, respectively; χ2 = 4.742, p = 0.02 for allele and 0.5% vs 3.9%, respectively; χ2 = 9.0331, p = 0.01 for genotype). Moreover, −82G allele was more frequent in controls smokers than in non-smokers (22.3% vs 14.1%, χ2 = 6.7588, p = 0.01). Serum level of MMP-12 was significantly higher in COPD patients than in controls groups (6.8 ng/ml vs 3.3 ng/ml, respectively; F = 7.433, p
- Subjects :
- 0301 basic medicine
Spirometry
Male
lcsh:Internal medicine
medicine.medical_specialty
Chronic bronchitis
lcsh:QH426-470
SNP
030105 genetics & heredity
Gastroenterology
Polymorphism, Single Nucleotide
03 medical and health sciences
FEV1/FVC ratio
Pulmonary Disease, Chronic Obstructive
Internal medicine
Matrix Metalloproteinase 12
Genotype
medicine
Genetics
Humans
COPD
Genetic Predisposition to Disease
lcsh:RC31-1245
Promoter Regions, Genetic
Genetics (clinical)
Alleles
Genetic Association Studies
medicine.diagnostic_test
business.industry
Smoking
Case-control study
medicine.disease
respiratory tract diseases
lcsh:Genetics
030104 developmental biology
Case-Control Studies
Female
ELISA
Gene polymorphism
Poland
business
Research Article
Metalloproteinase 12
Subjects
Details
- ISSN :
- 14712350
- Volume :
- 20
- Issue :
- 1
- Database :
- OpenAIRE
- Journal :
- BMC medical genetics
- Accession number :
- edsair.doi.dedup.....6a0c264bf88dd3dbebc6a1a22d5cd486