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在智利人群中,CpG-SNPs与非综合征裂唇之间存在关联
Patricio González-Hormazábal1, Noemí Leiva2, Rosa Pardo3
1Human Genetics Program, Institute of Biomedical Sciences, School of Medicine, Universidad de Chile, Santiago, Chile.
Archives of oral biology
|July 29, 2025
概括
一种常见的基因变异,rs12940418,靠近SHMT1基因,与具有或没有裂口 (NSCL/P) 的非综合性裂口 (NSCL/P) 的风险降低有关. 这一发现表明表观遗传机制可能在这种出生缺陷中发挥作用.
科学领域:
- 遗传学 是一个遗传学.
- 发展生物学 发展生物学
- 表观遗传学 在表观遗传学中,表观遗传学是指表观遗传学.
背景情况:
- 带有或没有裂的非综合性裂唇 (NSCL/P) 是一种具有复杂病因的常见出生缺陷.
- 遗传和环境因素与NSCL/P的发展有关.
- CpG岛屿是基因组的调节区域,可以影响基因表达.
研究的目的:
- 调查CpG群岛 (CpG-SNPs) 中常见变异和智利人口中NSCL/P风险之间的关联.
- 确定与NSCL/P相关基因表达相关的特定CpG-SNP.
主要方法:
- 使用GSA阵列对239例NSCL/P病例和524例对照进行基因定型.
- 在CpG群岛内对基因类型的推算和SNP的选择与裂纹组织中差异表达的基因相关.
- 后勤回归分析,以评估所选CpG-SNP与NSCL/P之间的关联.
主要成果:
- 96个CpG-SNP符合入选标准.
- SNP rs12940418显示出与降低NSCL/P风险 (OR 0.644) 的显著关联.
- 这种变种位于SHMT1的540 Kb之外,但显示出调节其表达的证据.
结论:
- rs12940418变异可能会影响SHMT1的表达,可能是通过cis/distal调节效应.
- SHMT1参与叶酸代谢,其变体以前与NSCL/P相关.
- 表观遗传机制,包括DNA甲基化和小RNA,可能会导致NSCL/P.P.等出生缺陷的发展.
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