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Published on: February 3, 2012
A HindIII polymorphism of fibronectin gene is associated with nephrolithiasis
Metin Onaran1, Akin Yilmaz, Ilker Sen
1Department of Urology, School of Medicine, Gazi University, Ankara, Turkey. monaran@gazi.edu
Insights
The fibronectin gene (FN1) HindIII polymorphism is significantly associated with calcium oxalate nephrolithiasis, suggesting it may serve as a genetic risk marker for kidney stones.
Area of Science:
- Genetics
- Nephrology
- Molecular Biology
Background:
- Calcium oxalate nephrolithiasis is a common kidney stone disease.
- Genetic factors play a role in the etiology of nephrolithiasis.
- Fibronectin (FN1) gene polymorphisms are potential contributors to stone formation.
Purpose of the Study:
- To investigate the association between fibronectin gene (FN1) polymorphisms and calcium oxalate nephrolithiasis.
- To identify FN1 gene polymorphisms as potential genetic risk factors for kidney stone disease.
Main Methods:
- Genomic DNA from 143 nephrolithiasis patients and 154 controls was analyzed.
- Polymerase chain reaction-restriction fragments length polymorphism was used to screen FN1 gene polymorphisms (HaeIII b, MspI, HindIII).
- Allele and genotype frequencies were compared between patient and control groups.
Main Results:
- No significant differences in genotype distributions were observed for HaeIII b and MspI polymorphisms.
- The FF genotype for the HindIII polymorphism showed a significant association with calcium oxalate nephrolithiasis (P = .00202 and P = .00203).
Conclusions:
- The HindIII polymorphism of the FN1 gene is strongly associated with calcium oxalate stone disease.
- FN1 gene variants, particularly the HindIII polymorphism, are potential genetic markers for nephrolithiasis risk.
- Further research into FN1's role in stone disease etiology is warranted.
Objectives:
To evaluate the association between fibronectin gene (FN1) polymorphisms and calcium oxalate nephrolithiasis as a genetic risk factor.
Methods:
Genomic DNA of 143 patients with calcium oxalate nephrolithiasis and 154 healthy controls were screened for polymorphisms (HaeIII b, MspI, and HindIII) of the FN1 gene, using polymerase chain reaction-restriction fragments length polymorphism method. Allele and genotype frequencies were compared between the groups.
Results:
Although the observed differences between distribution of genotypes of AA, AB, and BB (for HaeIII b), as well as CC, CD, and DD (MspI) were not significant, FF genotype for HindIII showed significant difference when compared with both EF and EE + EF genotype (P = .00202 and P = .00203, respectively).
Conclusions:
The results of our study revealed that HindIII polymorphism of the FN1 gene is highly associated with calcium oxalate stone disease. This association makes FN a good candidate for further studies about the etiology of stone disease, and in the future it could be a candidate marker for evaluating the genetic risks in patients with nephrolithiasis.
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