Correlation between vitamin D receptor genetic polymorphism and 25-hydroxyvitamin D3 in vitamin D deficiency rickets / 中国当代儿科杂志
Chinese Journal of Contemporary Pediatrics
;
(12): 544-546, 2010.
Article
in Chinese
| WPRIM
| ID: wpr-347547
ABSTRACT
<p><b>OBJECTIVE</b>To study the correlation between vitamin D receptor genetic polymorphism Fokand vitamin D deficiency rickets in children between 1 to 3 years old, and to explore the significance of hereditary factors in the development of vitamin D deficiency rickets.</p><p><b>METHODS</b>Sixty-two children with vitamin D deficiency rickets and 60 healthy children as a control group were enrolled. Serum levels of 25-hydroxyvitamin D3 were measured using ELISA. Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) genetic analysis method was used. A restriction fragment length polymorphism in the vitamin D receptor genetic polymorphism Fok I was tested. The frequencies of the vitamin D receptor genotype and allele were compared between the two groups.</p><p><b>RESULTS</b>Serum 25-hydroxyvitamin D3 levels in the rickets group were significantly lower than those in the control group ( 9.1+/-4.1 ng/mL vs 16.1+/-6.9 ng/mL; P<0.05 ). FF genotype in the vitamin D receptor genetic polymorphism Fok I was more common in the rickets group than in the control group (53% vs 25%; P<0.05). F allele frequency in the rickets group was significantly higher than that in the control group (73% vs 57%; P<0.05).</p><p><b>CONCLUSIONS</b>There is a correlation between vitamin D receptor genetic polymorphism Fok I and vitamin D deficiency rickets. This suggests that vitamin D receptor genetic polymorphism might play an important role in determining susceptibility to development of vitamin D deficiency rickets.</p>
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Polymorphism, Genetic
/
Rickets
/
Blood
/
Calcifediol
/
Receptors, Calcitriol
/
Genetic Predisposition to Disease
/
Genetics
Limits:
Child, preschool
/
Female
/
Humans
/
Infant
/
Male
Language:
Chinese
Journal:
Chinese Journal of Contemporary Pediatrics
Year:
2010
Type:
Article
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