基因rs828867 G A多态性减少了中国儿童的神经母细胞瘤的风险
Xinxin Zhang1, Bo Wang2, Lei Lin1
1Department of Pediatric Surgery, Guangzhou Institute of Pediatrics, Guangdong Provincial Key Laboratory of Research in Structural Birth Defect Disease, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou 510623, Guangdong, China.
Heliyon
|March 21, 2024
概括
在TET3基因中的单核酸多态 rs828867 G>A 与中国儿童神经母细胞瘤风险降低有关. 这种遗传变异可能会影响易感性,特别是在老年儿童和疾病晚期.
科学领域:
- 遗传学 遗传学 是一个
- 表观遗传学 在表观遗传学中,表观遗传学是指表观遗传学.
- 儿科瘤学 儿科瘤学
背景情况:
- 神经母细胞瘤 (NB) 是一种常见的儿科癌症,起源于神经细胞.
- RNA 5-甲基细胞因 (m5C) 修饰与癌症风险有关.
- TET甲基细胞二氧化酶3 (TET3) 是m5C脱甲基酶,但其在NB敏感性中的作用尚不清楚.
研究的目的:
- 调查TET3基因单核酸多态 (SNPs) 与神经母细胞瘤风险之间的关联.
- 评估特定的SNP (rs7560668,rs828867,rs6546891) 与NB易感性相关的情况.
主要方法:
- 一项涉及402名NB患者和473名对照者的流行病学研究.
- 三个TET3SNP的基因定型:rs7560668 (T>C),rs828867 (G>A) 和rs6546891 (A>G).
- 统计分析包括调整的几率比率 (OR) 和置信区间 (CI),分层分析,以及对基因表达的GTEx分析.
主要成果:
- rs828867的G>A多态性显著降低了中国儿童的NB风险 (GA与GG相比:OR=0.72,P=0.040;GA/AA与GG相比:OR=0.74,P=0.048).
- 具有2-3个风险基因型的个体显著增加了NB风险 (OR=1.40,P=0.027).
- 在18个月以上的儿童和临床阶段III+IV的儿童中,rs828867 G>A的保护作用更为明显. GTEx分析将rs828867 G>A与RP11-287D1.4和POLE4mRNA的改变表达联系起来.
结论:
- 在TET3基因多态 rs828867 G>A显著与神经母细胞瘤的倾向相关.
- 这一发现突显了TET3在NB病变发生中的潜在作用,并将其作为一种潜在的生物标志物.
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