Park Kyung Sook, Nam Jung Hyun, Choi Jeomil
Department of Biology, Sungshin Women's University, Seoul, Korea.
J Clin Periodontol. 2006 Aug;33(8):524-8. doi: 10.1111/j.1600-051X.2006.00944.x.
Generalized aggressive periodontitis (GAP) exhibits severe inflammation and alveolar bone loss. Vitamin D receptor (VDR) regulates both bone metabolism and inflammation-related genes, and its polymorphisms and haplotypes may affect the functional activity of the VDR protein in GAP.
We analysed the genetic effect of VDR start codon, intron, and exon polymorphisms, and their haplotypes on the development of GAP.
The VDR start codon 27823C > T (rs2228570, FokI), intron 8 60890G > A (rs154410, BsmI), and exon 9 61968T > C (rs731236, TaqI) polymorphisms were determined by using the polymerase chain reaction-restriction fragment length polymorphism analysis among 93 GAP patients and 143 healthy controls.
The VDR start codon 27823*C/C genotype was associated with an increased risk for GAP [odds ratio (OR) = 1.83, p = 0.028], but the intron 8 60880G > A and exon 9 61968T > C polymorphisms were not associated with GAP. The VDR haplotype homozygote ht1(C-G-T) carrying 27823C allele was associated with a 1.8-fold increased risk of GAP (OR = 1.84, p = 0.030).
These results demonstrate that the short VDR (27823*C/*C) protein may influence GAP susceptibility.
广泛侵袭性牙周炎（GAP）表现为严重炎症和牙槽骨丧失。维生素D受体（VDR）调节骨代谢和炎症相关基因，其多态性和单倍型可能影响GAP中VDR蛋白的功能活性。
我们分析了VDR起始密码子、内含子和外显子多态性及其单倍型对GAP发生发展的遗传效应。
采用聚合酶链反应-限制性片段长度多态性分析方法，对93例GAP患者和143例健康对照者检测VDR起始密码子27823C>T（rs2228570，FokI）、内含子8 60890G>A（rs154410，BsmI）和外显子9 61968T>C（rs731236，TaqI）多态性。
VDR起始密码子27823*C/C基因型与GAP风险增加相关[比值比（OR）=1.83，p=0.028]，但内含子8 60880G>A和外显子9 61968T>C多态性与GAP无关。携带27823C等位基因的VDR单倍型纯合子ht1（C-G-T）与GAP风险增加1.8倍相关（OR=1.84，p=0.030）。
这些结果表明，短VDR（27823*C/*C）蛋白可能影响GAP易感性。
