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C/T-13910 多形态基因定型结果与乳糖耐受性测试结果之间的协议评估:巴西的一项以人口为基础的回顾性研究
Marcia Wehba Esteves Cavichio1, Caio Robledo D'Angioli Costa Quaio2, Wagner Antonio da Rosa Baratela3
1Grupo Fleury, Departamento de Gastroenterologia, São Paulo, SP, Brasil.
Arquivos de gastroenterologia
|March 7, 2024
概括
在巴西,C/T-13910多态性测试与乳糖耐受性测试 (LTT) 适度一致,用于诊断乳糖不耐受性. 建议对其他遗传标记物进行进一步的研究,以提高诊断准确度.
科学领域:
- 遗传学 是一个遗传学.
- 胃肠病学 胃肠病学
- 临床诊断 临床诊断 临床诊断
背景情况:
- 乳糖耐受性测试 (LTT) 是巴西广泛使用的,低成本的乳糖不耐受性诊断方法.
- 乳糖酶持久性的C/T-13910多态性在高加索人群中得到了很好的研究,但其与巴西混合人口中LTT的一致性是未知的.
研究的目的:
- 为了评估C/T-13910多态基因型化和LTT结果在巴西人群之间的协议.
- 评估年龄或居住状态是否影响这些诊断方法之间的一致性.
主要方法:
- 来自巴西各州单一实验室数据库的404名患者的回顾性分析.
- 对C/T-13910多态的基因检测与LTT结果的比较,从2016年4月到2019年2月.
- 结果按年龄组和州分层划分 (圣保罗,里约格兰德州).
主要成果:
- 基因型和LTT之间的总体一致性为80.4% (325/404名患者),具有中等一致性 (κ=0.42).
- 在19.6% (79/404名患者) 观察到不一致性,包括乳糖不持久性基因型 (C/C) 显示正常LTT的个体,以及乳糖持久性基因型 (C/T,T/T) 显示异常LTT的个体.
- 年龄或居住状态对协议没有显著的影响.
结论:
- 温和的协议 (κ=0.42) 表明在巴西仅使用C/T-13910多态基因型鉴定来诊断乳糖不耐受性的局限性.
- 探索其他多态可能会提高乳糖不耐症遗传测试的准确性.
- 建议进行进一步的研究,以调查额外的遗传标记,以改善诊断一致性.
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