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牙釉质形成基因的单核苷酸多态性与幼儿龋病——系统评价、基于基因、基因簇和荟萃分析。

Single nucleotide polymorphisms of enamel formation genes and early childhood caries - systematic review, gene-based, gene cluster and meta-analysis.

机构信息

Department of Pediatric and Preventive Dentistry, Centre for Early Childhood Caries and Research, Sri Ramachandra Institute of Higher Education and Research, Chennai, Tamil Nadu; Department of Pediatric and Preventive Dentistry, Indira Gandhi Institute of Dental Sciences, Sri Balaji Vidyapeeth, Puducherry, India.

Department of Environmental Health Engineering, Faculty of Public Health, Sri Ramachandra Institute of Higher Education and Research, Chennai, Tamil Nadu; Department of Pediatric and Preventive Dentistry, Dr. D.Y. Patil Dental College and Hospital, Dr. D.Y. Patil Vidyapeeth, Pune, Maharashtra, India.

出版信息

J Indian Soc Pedod Prev Dent. 2023 Jan-Mar;41(1):3-15. doi: 10.4103/jisppd.jisppd_78_23.

DOI:10.4103/jisppd.jisppd_78_23
PMID:37282406
Abstract

INTRODUCTION

Genetic polymorphisms of genes regulating amelogenesis can alter susceptibility to Early Childhood Caries (ECC). This systematic review aims to analyze associations between single-nucleotide polymorphisms of enamel formation genes and ECC.

METHODS

Search was conducted across PUBMED, CINAHL, LILACS, SCOPUS, EMBASE, Web of Science, Genome-Wide Association Studies databases from January 2003 to September 2022. This was supplemented by hand search. Totally 7124 articles were identified and 21 articles that satisfied the inclusion criteria proceeded to data extraction. Quality assessment was done using the Q-Genie tool.

RESULTS

Quantitative synthesis revealed that homozygous genotype AA of rs12640848 was significantly higher in children with ECC with an odds ratio of 2.36. Gene-based analysis revealed significant association between six variants of AMBN, four variants of KLK4, two variants of MMP20, and a single variant of each of MMP9 and MMP13 genes and ECC. The Bonferroni corrected-log10 P value of amelogenesis gene Cluster was 2.25 (0.05/88 = 5.6 × 10). Search Tool for Retrieval of Interacting Genes and Proteins plot constructed to comprehend the protein-protein interaction revealed the presence of four functional clusters. Gene function prediction using Multiple Association Network Integration Algorithm revealed that physical interaction between these genes was 69.3%.

CONCLUSION

Polymorphisms of genes regulating amelogenesis can influence the susceptibility to ECC. AA genotype of rs12640848 may increase the susceptibility to ECC. Gene-based analysis revealed a significant association between multiple polymorphisms of genes regulating amelogenesis and ECC.

摘要

简介

调控牙釉质形成的基因遗传多态性可能会改变儿童早期龋(ECC)的易感性。本系统评价旨在分析釉质形成基因单核苷酸多态性与 ECC 之间的关联。

方法

检索 PUBMED、CINAHL、LILACS、SCOPUS、EMBASE、Web of Science、全基因组关联研究数据库,检索时间为 2003 年 1 月至 2022 年 9 月。此外,还进行了手工检索。共确定了 7124 篇文章,其中 21 篇符合纳入标准的文章进行了数据提取。使用 Q-Genie 工具进行质量评估。

结果

定量综合分析显示,ECC 患儿 rs12640848 纯合基因型 AA 的出现频率明显更高,比值比为 2.36。基因分析显示,AMBN 基因的 6 个变体、KLK4 基因的 4 个变体、MMP20 基因的 2 个变体、MMP9 基因和 MMP13 基因的各 1 个变体与 ECC 显著相关。牙釉质基因簇的 Bonferroni 校正-log10 P 值为 2.25(0.05/88=5.6×10)。构建搜索工具以检索相互作用的基因和蛋白质的图谱,以理解蛋白质-蛋白质相互作用,揭示了存在 4 个功能簇。使用多关联网络集成算法进行基因功能预测,发现这些基因之间的物理相互作用为 69.3%。

结论

调控牙釉质形成的基因多态性可能影响 ECC 的易感性。rs12640848 的 AA 基因型可能会增加 ECC 的易感性。基因分析显示,多个调控牙釉质形成的基因的多态性与 ECC 之间存在显著关联。

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