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外显子组分析鉴定儿童龋齿的功能外显子生物标志物。

Exome array identifies functional exonic biomarkers for pediatric dental caries.

机构信息

Department of Genetic Research, Institute for Research and Medical Consultations (IRMC), Imam Abdulrahman Bin Faisal University, Dammam, Saudi Arabia.

Departments of Neuroscience Research, Institute for Research and Medical Consultations (IRMC), Imam Abdulrahman Bin Faisal University, Dammam, Saudi Arabia.

出版信息

Comput Biol Med. 2022 Feb;141:105019. doi: 10.1016/j.compbiomed.2021.105019. Epub 2021 Nov 4.

DOI:10.1016/j.compbiomed.2021.105019
PMID:34749984
Abstract

BACKGROUND

Pediatric dental caries is common among Arab children, however we are still searching for possible genes and molecular mechanisms that influence caries development.

AIM

To identity genetic predispositions of dental caries among Saudi children with high DMFT (Decayed, Missing, and Filled Teeth).

DESIGN

This case-control study analysed putative functional exonic-variants (n = 243,345) to study the molecular genetics of pediatric caries with high dmft index, 8.75 ± 4.16 on Arab-ancestry subjects with primary dentition (n = 111; 76 cases, dmft>5 and 35 controls, dmft = 0).

RESULTS

Pediatric caries is significantly associated with single nucleotide polymorphisms (SNP) in the GRIN2B-rs4764039C (p-value = 2.03 × 10) and CFH-rs1065489G (p-value = 8.26 × 10) genes, even after Bonferroni correction. Irregular tooth brushing habits (p = 0.0404) and irregular dental visits (p = 0.0050) are significantly associated with caries. Functional enrichment analysis of significant genes is associated with calcium-activated chloride channel, Staphylococcus aureus infection, and N-linked glycosylation.

CONCLUSION

Genetic predispositions are found to be significantly associated with the high prevalence of pediatric caries, which is a disorder of multigene-environment interaction. The significant functional exonic variants identified can be biomarkers for the early diagnosis of pediatric dental caries in Arabs.

摘要

背景

儿科龋齿在阿拉伯儿童中很常见,但我们仍在寻找可能影响龋齿发展的基因和分子机制。

目的

确定具有高 DMFT(龋齿、缺失和填补的牙齿)的沙特儿童的龋齿遗传易感性。

设计

本病例对照研究分析了假定的外显子功能变体(n=243345),以研究具有高 dmft 指数的儿科龋齿的分子遗传学,阿拉伯血统的主要牙齿(n=111;76 例,dmft>5 和 35 例对照,dmft=0)的指数为 8.75±4.16。

结果

儿科龋齿与 GRIN2B-rs4764039C(p 值=2.03×10)和 CFH-rs1065489G(p 值=8.26×10)基因中的单核苷酸多态性(SNP)显著相关,即使经过 Bonferroni 校正也是如此。不规则刷牙习惯(p=0.0404)和不规则看牙(p=0.0050)与龋齿显著相关。显著基因的功能富集分析与钙激活氯离子通道、金黄色葡萄球菌感染和 N-连接糖基化有关。

结论

遗传易感性与儿科龋齿的高患病率显著相关,这是一种多基因-环境相互作用的疾病。鉴定的显著外显子功能变体可作为阿拉伯人儿科龋齿早期诊断的生物标志物。

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