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Matrix metalloproteinase-9 gene polymorphisms and chronic kidney disease
Rieko Okada1, Sayo Kawai, Mariko Naito
1Department of Preventive Medicine, Nagoya University Graduate School of Medicine, Japan. rieokada@med.nagoya-u.ac.jp
American Journal of Nephrology
|November 7, 2012
Summary
Specific gene variations in matrix metalloproteinase-9 (MMP9) were linked to a lower prevalence of chronic kidney disease (CKD) in a Japanese population. These findings suggest MMP9 may play a protective role in kidney disease progression.
Area of Science:
- Genetics
- Nephrology
- Molecular Biology
Background:
- Chronic kidney disease (CKD) affects millions globally, with genetic factors influencing its prevalence.
- Matrix metalloproteinases (MMPs) and their inhibitors (TIMPs) are crucial in extracellular matrix remodeling, impacting kidney structure and function.
- Understanding the genetic basis of CKD is vital for developing targeted therapies.
Purpose of the Study:
- To investigate the association between chronic kidney disease (CKD) prevalence and genetic variations (polymorphisms) in matrix metalloproteinase (MMP) and tissue inhibitor of matrix metalloproteinase (TIMP) genes.
- To explore the potential role of MMP9 gene polymorphisms in the development and progression of kidney disease.
Main Methods:
- Genotyping of 10 potentially functional polymorphisms in MMP and TIMP genes was performed on DNA samples from 3,309 Japanese individuals aged 35-69 years.
- The prevalence of CKD, defined by an estimated glomerular filtration rate <60 ml/min/1.73 m(2), was statistically compared across different genotypes.
- Statistical analysis included calculating odds ratios (ORs) and p-values for trends and specific genotype combinations.
Main Results:
- A significant decrease in CKD prevalence was observed with an increasing number of minor alleles for MMP9 polymorphisms C-1562T and R668Q.
- Specific MMP9 haplotypes (e.g., -1562T/279R/668Q) and genotype combinations (e.g., -1562TT/279RR/668QQ) were associated with a reduced risk of CKD.
- The MMP9 genotype combination -1562TT/279RR/668QQ demonstrated a halved risk for CKD compared to the major allele homozygous group.
Conclusions:
- Potentially functional polymorphisms in the MMP9 gene are significantly associated with the prevalence of CKD in a large Japanese population.
- These identified genotypes are known to enhance MMP9 expression, supporting the hypothesis of a protective role for MMP-9 in kidney disease progression.
- The study highlights the importance of MMP9 genetic variations in understanding CKD epidemiology and potential therapeutic targets.
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