Association of vdr, cyp27b1, cyp24a1 and mthfr gene polymorphisms with oral lichen planus risk
Association of vdr, cyp27b1, cyp24a1 and mthfr gene polymorphisms with oral lichen planus risk
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DOI：
10.1007/s00784-015-1572-7
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发表时间：
2016-05-01
影响因子：
3.4
通讯作者：
Magic, Zvonko
中科院分区：
文献类型：
--
作者：
Kujundzic, Bojan;Zeljic, Katarina;Magic, Zvonko
目前的研究调查了VDR EcoRV与（rs4516035），FokI（rs2228570），ApaI（rs7975232）和TaqI（rs731236），CYP27 B1（rs4646536），CYP24A1（rs2296241），和MTHFR rs 1801133基因多态性与口腔扁平苔藓（OLP）的关系研究组包括65名口腔扁平苔藓患者和100名健康献血员作为对照组。采用真实的时间PCR或PCR-限制性片段长度多态性（RFLP）方法对维生素D受体（VDR）FokI基因的单核苷酸多态性（SNP）进行基因分型与野生型基因型相比，rs 2228570多态性与口腔扁平苔藓风险增加相关。（比值比（OR）= 3.877，p = 0.017; OR = 38.153，p = 0.001）。CYP 24 A1基因rs 2296241多态性杂合基因型与野生型相比，OLP发生风险显著降低（OR = 0.314，p = 0.012）。VDR基因ApaI和TaqI多态性存在连锁不平衡（D' = 0.71，r（2）= 0.22）。本研究结果提示VDR FokI（rs 2228570）和CYP 24 A1 rs 2296241基因多态性在口腔扁平苔藓易感性中可能起重要作用，新的分子生物标志物的发现可能有助于OLP易感个体的确定。
The current study investigated the association between VDR EcoRV (rs4516035), FokI (rs2228570), ApaI (rs7975232) and TaqI (rs731236), CYP27B1 (rs4646536), CYP24A1 (rs2296241), and MTHFR (rs1801133) gene polymorphisms and risk of oral lichen planus (OLP) occurrence.The study group consisted of 65 oral lichen planus patients and 100 healthy blood donors in the control group. Single nucleotide polymorphisms were genotyped by real time PCR or PCR-restriction fragment length polymorphism (RFLP) method.Heterozygous as well as mutated genotype of vitamin D receptor (VDR) FokI (rs2228570) polymorphism was associated with increased oral lichen planus risk in comparison with wild type genotype (odds ratio (OR) = 3.877, p = 0.017, OR = 38.153, p = 0.001, respectively). A significantly decreased OLP risk was observed for heterozygous genotype of rs2296241 polymorphism in CYP24A1 gene compared with the wild type form (OR = 0.314, p = 0.012). VDR gene polymorphisms ApaI and TaqI were in linkage disequilibrium (D' = 0.71, r (2) = 0.22). Identified haplotype AT was associated with decreased OLP risk (OR = 0.592, p = 0.047).Our results highlight the possible important role of VDR FokI (rs2228570) and CYP24A1 rs2296241 gene polymorphisms for oral lichen planus susceptibility.Identification of new molecular biomarkers could potentially contribute to determination of individuals with OLP predisposition.