在智利,父性DNMT1变异与非综合征裂唇或没有裂 palates之间基于哈普洛型的关联
Verónica Inostroza1, Roberto Pantoja2, Noemí Leiva3
1Departamento de Anatomía, Escuela de Medicina, Pontificia Universidad Católica de Chile, Chile.
Journal of the World federation of orthodontists
|March 11, 2025
概括
父亲DNA甲基转移酶1 (DNMT1) 基因变异与后代的非综合征裂唇风险有关,包括或没有裂口 (NSCL/P). 特定的DNMT1单元类型,而不是单个标志物,在智利人群中显示出显著的关联.
科学领域:
- 遗传学 是一个遗传学.
- 表观遗传学 在表观遗传学中,表观遗传学是指表观遗传学.
- 发展生物学 发展生物学
背景情况:
- DNA甲基转移酶1 (DNMT1) 对于精子发生过程中的表观遗传调节和DNA甲基化维护至关重要.
- 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.
- 父亲遗传因素可能会导致NSCL/P风险.
研究的目的:
- 研究DNMT1基因的父多态变异与后代NSCL/P风险之间的关联.
- 分析DNMT1基因内的单核酸多态 (SNP) 变体和单核型关联.
主要方法:
- 分析了来自智利的101名NSCL/P病例的父亲和187名对照的父亲中的9个DNMT1SNP.
- 对于单个标记器关联的逻辑回归 (附加,主导,衰退模型).
- 使用3-SNP滑动窗和概率比测试进行的哈普洛型关联分析,与错误发现率纠正.
主要成果:
- 在基因模型中,对于个别的DNMT1SNP没有发现显著的关联.
- 两个特定的DNMT1单元型 (rs2228611-rs2228612-rs16999714和rs2228612-rs16999714-rs17291414) 在经过校正后在主导模型下显示出与NSCL/P有显著的关联.
- 显著的单元类型共享rs2228612和rs16999714 DNMT1 SNPs.
结论:
- 包含特定DNMT1SNP (rs2228612和rs16999714) 的父亲单元类型与智利人口中的NSCL/P表达有关.
- 这项研究强调了父亲表观遗传因素在NSCL/P的潜在作用.
- 需要进一步的体外/体内研究来阐明这些DNMT1变异对基因表达或蛋白质功能的功能影响.
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