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哥伦比亚人群中维生素D受体(VDR)相关基因多态性及其单倍型与慢性牙周炎的关联研究

Association Study of Vitamin D Receptor (VDR) - Related Genetic Polymorphisms and their Haplotypes with Chronic Periodontitis in Colombian Population.

作者信息

Tobón-Arroyave Sergio Iván, Isaza-Guzmán Diana María, Pineda-Trujillo Nicolás

机构信息

Professor, Laboratory of Immunodetection and Bioanalysis, Faculty of Dentistry, University of Antioquia , Medellín, Antioquia, Colombia .

Professor, Gene Mapping Research Group, Faculty of Medicine, University of Antioquia , Medellín, Antioquia, Colombia .

出版信息

J Clin Diagn Res. 2017 Feb;11(2):ZC60-ZC66. doi: 10.7860/JCDR/2017/23967.9451. Epub 2017 Feb 1.

DOI:10.7860/JCDR/2017/23967.9451
PMID:28384983
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5376871/
Abstract

INTRODUCTION

There is strong evidence that both genetic and environmental factors may affect the periodontal clinical status. However, epidemiological evidence on the association between Vitamin D Receptor (VDR) polymorphisms and Chronic Periodontitis (CP) has been inconsistent.

AIM

The focus of this study was to identify if a possible association between VDR Single-Nucleotide Polymorphisms (SNPs) may be implicated in the aetiopathogenesis of CP in Colombian population.

MATERIALS AND METHODS

One hundred and ten CP patients and 50 Healthy Controls (HC) were recruited. Periodontal status was assessed based on probing depth, clinical attachment level, extent, and severity of periodontal breakdown. The polymerase chain reaction-restriction fragment length polymorphism method was used to identify the , and SNPs from saliva samples. Odds Ratios (ORs) along with their 95% Confidence Intervals (CIs) were computed to compare the distribution of genotypes/alleles between HC and CP patients, alongside with analysis of Linkage Disequilibrium (LD) and haplotype associations between SNPs. Also, an analysis of the interaction between genetic findings and those significant demographic factors was performed for all SNPs.

RESULTS

There was no association neither between the different genotypes/allele frequencies nor haplotypes and CP. Similarly, no significant differences in extent or severity amongst genotype/allele groups were observed. Even so, interaction analysis revealed significant synergistic interactions between each SNP and age associated with the disease status.

CONCLUSION

Although these results do not support that VDR SNPs could be identified as independent risk predictor variables for CP in the Colombian population, synergistic biological interactive effects of all these SNPs related to age might play a significant role in the pathogenic pathways of CP.

摘要

引言

有充分证据表明,遗传因素和环境因素均可影响牙周临床状况。然而,关于维生素D受体(VDR)基因多态性与慢性牙周炎(CP)之间关联的流行病学证据并不一致。

目的

本研究的重点是确定VDR单核苷酸多态性(SNP)之间的可能关联是否与哥伦比亚人群CP的发病机制有关。

材料与方法

招募了110名CP患者和50名健康对照(HC)。根据探诊深度、临床附着水平、牙周破坏的范围和严重程度评估牙周状况。采用聚合酶链反应-限制性片段长度多态性方法从唾液样本中鉴定、和SNP。计算优势比(OR)及其95%置信区间(CI),以比较HC和CP患者之间基因型/等位基因的分布,同时分析SNP之间的连锁不平衡(LD)和单倍型关联。此外,对所有SNP进行了基因研究结果与那些重要人口统计学因素之间相互作用的分析。

结果

不同基因型/等位基因频率、单倍型与CP之间均无关联。同样,在基因型/等位基因组之间未观察到范围或严重程度上的显著差异。即便如此,相互作用分析显示每个SNP与年龄之间存在与疾病状态相关的显著协同相互作用。

结论

尽管这些结果不支持VDR SNP可被确定为哥伦比亚人群CP的独立风险预测变量,但所有这些与年龄相关的SNP的协同生物学相互作用效应可能在CP的致病途径中起重要作用。