[Association of vitamin D receptor gene Apa I polymorphism with vitamin D deficiency rickets].
OBJECTIVE
To study the association between vitamin D receptor (VDR) gene Apa I polymorphism and vitamin D deficiency rickets in children of Shanxi Han ethnic group, and to explore the significance of individual hereditary factors in the development of rickets.


METHODS
This was a case control study. The grouping criteria were serum 25(OH)D(3) level, blood bone alkaline phosphatase and clinical symptom, respectively. The laboratory test methods were enzyme linked immunoassay and radioimmunoassay. PCR-RFLP technology was applied to examine VDR gene Apa I site polymorphism and Hardy-Weinberg hereditary balance test was used to examine the coincidence of gene distribution.


RESULTS
Frequencies of AA, Aa and aa genotypes were 5.0%, 52.5% and 42.5% in the rickets group and 4.4%, 55.9% and 39.7% in the control group, respectively. Frequencies of A and a genotypes were 31.3% and 68.7% in the rickets group and 32.3% and 67.7% in the control group, respectively. There was not significant difference in the frequency distribution of VDR genotype and allelic genes between two groups (chi(2) = 0.089, P > 0.05; chi(2) = 0.028, P > 0.05). There was significant difference in the serum 25(OH)D(3) between two groups (t = -8.919, P < 0.01).


CONCLUSIONS
The distribution of VDR gene Apa I polymorphism in children of Han ethnic group is balanced relatively. The Frequency of a allelic genes is 67.7% which is therefore the superior gene. VDR gene polymorphism might not be important in an individual's susceptibility to development of vitamin D deficiency.
Xi
Wei-ping
WP
Department of Child Health Care, Shanxi Children's Hospital, Taiyuan 030013, China.
Yang
Jian-ping
JP
Li
Lian-qing
LQ
Zhu
Qing-yi
QY
Zhou
Xiang-hong
XH
D002112:Calcifediol / Q000097:blood; D002117:Calcitriol / Q000172:deficiency*; D016022:Case-Control Studies; D002675:Child, Preschool; D002681:China / Q000208:ethnology; D004797:Enzyme-Linked Immunosorbent Assay; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D007223:Infant; D008297:Male; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide; D011863:Radioimmunoassay; D018167:Receptors, Calcitriol / Q000235:genetics*; D012279:Rickets / Q000097:blood / Q000209:etiology / Q000235:genetics*; D014808:Vitamin D Deficiency / Q000150:complications / Q000235:genetics*
D018167:Receptors, Calcitriol; D002117:Calcitriol; D002112:Calcifediol