中国实用口腔科杂志

中国实用口腔科杂志 ›› 2022, Vol. 15 ›› Issue (5): 585-589.DOI: 10.19538/j.kq.2022.05.014

• 论著 • 上一篇    下一篇

基于核心家系的黏附连接相关蛋白1基因多态性与广西白裤瑶族儿童龋病遗传易感性关联分析

潘金凤，李安迪，何灏逾，刘秋林，于雪婷，曾晓娟   

  1. 广西医科大学口腔医学院/附属口腔医院公共健康科，广西壮族自治区卫生健康委员会口腔感染性疾病防治重点实验室，广西  南宁  530021
  • 出版日期:2022-09-30 发布日期:2022-10-14
  • 基金资助:
    国家自然科学基金（82060202）

  • Online:2022-09-30 Published:2022-10-14

摘要： 目的    探讨黏附连接相关蛋白1（adherens junctional associated protien 1，AJAP1）基因多态性与广西白裤瑶族儿童龋病遗传易感性之间的关联。方法    选取2018年广西河池市南丹县里湖瑶乡12岁白裤瑶族高龋儿童（30人）及其生物学父母（60人）组成的三人核心家系为研究对象。利用SNPscan技术对AJAP1基因rs3896439、rs4654438位点进行分型，通过FBAT 2.0.4软件进行基于核心家系的传递不平衡检验（transmission disequilibrium test，TDT）及单倍型关联分析。结果    TDT分析结果显示，rs3896439位点单核苷酸多态性与龋病的遗传易感性显著相关，G等位基因从杂合子父母向高龋子代过度传递，为龋病的危险因素（加性模型：Z = 2.263，P = 0.024；显性模型：Z = 2.064，P = 0.039）。单倍型关联分析结果显示，rs3896439-rs4654438的单倍型G-C从杂合子父母向高龋子代显著过度传递，与龋病的遗传易感性相关联（加性模型：Z = 2.180，P = 0.029；显性模型：Z = 2.206，P = 0.027）。结论    AJAP1基因多态性可能与广西白裤瑶族儿童龋病的遗传易感性相关。

关键词: 黏附连接相关蛋白1, 基因多态性, 遗传易感性, 核心家系, 白裤瑶族

Abstract: Objective    To investigate the association between adherens junctional associated protien 1（AJAP1）gene polymorphism and genetic susceptibility of dental caries in Baikuyao children in Guangxi. Methods    A total of 30 Baikuyao children with high caries and 60 biological parents were selected. Genotyping of AJAP1 gene rs3896439 and rs4654438 was performed by SNPscan technique. Family-based transmission disequilibrium test（TDT）and haplotype analysis were performed by FBAT 2.0.4 software. Results    TDT analysis revealed the single nucleotide polymorphism of rs3896439 was significantly associated with genetic susceptibility to dental caries，the G allele was over-transmitted from heterozygous parents to offsprings with high caries，which was a risk factor for dental caries（additive model：Z = 2.263，P = 0.024；dominant model：Z = 2.064，P = 0.039）. Haplotype analysis revealed the haplotype G-C of rs3896439-rs4654438 was significantly over-transmitted from heterozygous parents to offsprings with high caries，which was association with genetic susceptibility to dental caries（additive model：Z = 2.180，P = 0.029；dominant model：Z = 2.206，P = 0.027）. Conclusion    The polymorphisms of AJAP1 may be association with genetic susceptibility to dental caries in Baikuyao children in Guangxi.

Key words: adherens junctional associated protien 1, AJAP1, gene polymorphism, genetic susceptibility, nuclear family, Baikuyao population