在METTL16中的遗传变异影响非综合征性面腔裂的风险
Xinze Xu1,2, Xiaofeng Li1,2, Minxuan Han1,2,3
1State Key Laboratory of Cultivation Base of Research, Prevention and Treatment for Oral Diseases, Nanjing Medical University, Nanjing, China.
Birth defects research
|October 15, 2024
概括
在N6-甲基氨酸 (m6A) 修饰基因中的遗传变异,特别是METTL16中的rs8078195,与非综合症口腔裂 (NSOCs) 风险有关. 这一发现可能会影响对NSOC发展的理解.
科学领域:
- 遗传学 遗传学 是一个
- 分子生物学分子生物学
- 发展生物学 发展生物学
背景情况:
- N6-甲基氨酸 (m6A) 是一种关键的RNA修饰,参与各种细胞过程和疾病.
- 了解影响非综合症口腔裂 (NSOCs) 的遗传因素对于诊断和治疗至关重要.
研究的目的:
- 研究m6A修饰基因中的遗传变异与发展NSOCs的风险之间的关联.
- 识别可能导致NSOC易感性的特定单核酸多态 (SNPs).
主要方法:
- 传输不平衡测试 (TDT) 分析了944个案例母三组.
- 使用HaploReg,RegulomeDB和基因组丰富数据对SNP的功能预测.
- 通过GTEx和eQTLGen进行表达定量特征位置 (eQTL) 分析,以及基因表达相关性和丰富性分析.
主要成果:
- 在METTL16基因中的SNP rs8078195 (A>C) 与NSOCs风险增加 (OR=1.32,p=1.80E-03) 之间发现了暗示性关联.
- 在rs8078195区域表现出过敏和基因组修饰,在皮肤和血液组织中对METTL16具有显著的eQTL影响.
- 生物信息分析表明,METTL16影响NSOC的发展,可能通过调节细胞循环过程.
结论:
- 在METTL16基因中的基因变异rs8078195与NSOCs的发生有关.
- METTL16可能在NSOCs的病原发生中发挥作用,因此需要进一步调查其监管机制.
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