Vitamin D receptor gene (FokI, TaqI, BsmI, and ApaI) polymorphisms in children with urinary tract infection
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Published on: August 5, 2010
Abolfazl Mahyar1, Parviz Ayazi2, Arshnoos Sarkhosh Afshar2
1Qazvin Children Hospital, Qazvin University of Medical Sciences, Qazvin, Iran. Abolfazl473@yahoo.com.
Insights
Genetic variations in the vitamin D receptor (VDR) gene, specifically ApaI and BsmI polymorphisms, are linked to urinary tract infections (UTIs) in children. These VDR gene variations may contribute to the development of UTIs in pediatric populations.
Area of Science:
- Genetics
- Pediatrics
- Immunology
Background:
- Urinary tract infection (UTI) is a common pediatric condition with limited understanding of its genetic underpinnings.
- The role of vitamin D in immune function suggests a potential genetic link through the vitamin D receptor (VDR).
Purpose of the Study:
- To investigate the association between vitamin D receptor (VDR) gene polymorphisms and the susceptibility to urinary tract infections (UTIs) in children.
- To compare VDR gene variants in children with UTI against a healthy control group.
Main Methods:
- Case-control study involving 60 children with UTI and 60 healthy controls.
- Genetic analysis using DNA extraction, polymerase chain reaction (PCR), and restriction fragment length polymorphism (RFLP) to identify VDR gene polymorphisms (ApaI and BsmI).
Main Results:
- Significant differences in VDR gene ApaI and BsmI polymorphisms were observed between children with UTI and controls (P < 0.05).
- Higher frequencies of VDR genotypes (Bb, bb, Aa, aa) and alleles (b, a) were found in the UTI group compared to controls (P < 0.05).
- VDR ApaI and BsmI genotypes also differed significantly between lower UTI and acute pyelonephritis groups (P < 0.05).
Conclusions:
- The study demonstrates a significant association between VDR gene ApaI and BsmI polymorphisms and the occurrence of UTIs in children.
- These VDR gene polymorphisms may be implicated in the pathogenesis of pediatric UTIs, highlighting a potential genetic predisposition.
Background:
Little is known about the genetic background of urinary tract infection (UTI) in children.
Methods:
In this study, vitamin D receptor (VDR) gene polymorphisms were compared between 60 children with UTI (case group) and 60 healthy children (control group). DNA extraction, polymerase chain reaction, and the restriction fragment length polymorphism methods were used to perform the genetic analysis.
Results:
There was a significant difference between the case and control groups for VDR gene, ApaI and Bsml, polymorphisms (P < 0.05). The frequency of VDR Bb, bb, Aa, and aa genotypes, and the b and a alleles in the case group was significantly higher than that in the control group (P < 0.05). A significant difference was also found between lower UTI and acute pyelonephritis groups for the VDR Apal and Bsml genotypes (P < 0.05). There was no significant difference between children with first UTI and those with more than one UTI for VDR gene polymorphisms (P > 0.05).
Conclusion:
This study showed that there is a significant relationship between VDR gene, Apal and Bsml, polymorphisms and UTI in children. The results indicate that these polymorphisms may play a role in pathogenesis of UTI.
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