Vitamin D receptor polymorphism among rickets children in Mongolia
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Published on: December 9, 2015
Akie Kaneko1, Vaanchig Urnaa, Keiko Nakamura
1Health Promotion, Division of Public Health, Graduate School of Tokyo Medical and Dental University, Yushima, Tokyo, Japan.
Insights
Vitamin D receptor (VDR) gene variations are not linked to rickets in Mongolian children. This study found no significant association between VDR polymorphism and bone properties in childhood rickets cases.
Area of Science:
- Genetics
- Pediatrics
- Bone Metabolism
Background:
- High prevalence of rickets (32%) reported in Mongolian children under five.
- Vitamin D receptor (VDR) gene polymorphism is studied for its role in bone metabolism.
- Investigated the link between VDR polymorphism and rickets prevalence/bone properties in Mongolian children.
Purpose of the Study:
- To determine if VDR gene polymorphism is associated with the high prevalence of rickets in Mongolia.
- To examine the effect of VDR polymorphism on bone properties in childhood.
Main Methods:
- Case-control study in Ulaanbaatar with 80 rickets cases and 72 controls (aged 7-10 years).
- VDR polymorphism assessed using BsmI, ApaI, and TaqI.
- Bone properties measured by age-standardized tibial cortical speed of sound (TCSOS).
Main Results:
- Hardy-Weinberg equilibrium confirmed for allelic frequencies in all groups.
- No significant differences in VDR genotype frequencies between rickets cases and controls.
- No significant differences in TCSOS based on VDR genotype in either cases or controls.
Conclusions:
- VDR polymorphism does not appear to be a major factor in the development of rickets in Mongolian children.
- VDR gene variants do not influence tibial cortical speed of sound in childhood.
Background:
It was reported that 32% of children under five years old in Mongolia had symptoms of rickets. Vitamin D receptor (VDR) gene polymorphism has received attention in relation to bone metabolism. We therefore investigated whether VDR polymorphism is related to high prevalence of rickets in Mongolia and to bone properties in childhood.
Methods:
We conducted a case-control study in Ulaanbaatar involving 80 children aged 7-10 years with a history of rickets (cases) and 72 children with no history of rickets (controls). VDR polymorphism was assessed using BsmI, ApaI, and TaqI, and bone properties were determined by measuring age standardized tibial cortical speed of sound (TCSOS).
Findings:
Each allelic frequency was verified to satisfy the Hardy-Weinberg equilibrium in cases, controls, and the total sample. The VDR polymorphisms among cases (BB 3%, Bb 18%, bb 80%; AA 15%, Aa 38%, aa 47%; and TT 81%, Tt 17%, tt 3%) did not differ significantly from those among controls (BB 1%, Bb 13%, bb 86%; AA 16%, Aa 46%, aa 38%; and TT 86%, Tt 13%, tt 1%). There were no significant differences in TCSOS according to the VDR genotype among either cases or controls.
Conclusions:
The VDR polymorphism does not play a major role in the development of rickets in Mongolia and has no effect on TCSOS in childhood.
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