与复杂疾病相关的序列变异的父母起源
Augustine Kong1, Valgerdur Steinthorsdottir, Gisli Masson
1deCODE genetics, Sturlugata 8, 101 Reykjavík, Iceland. kong@decode.is
Nature
|December 18, 2009
概括
遗传变异的父母起源影响疾病风险. 这项研究发现SNP与乳腺癌,基底细胞癌和冰岛人2型糖尿病相关的父母特异性关联.
科学领域:
- 遗传学 是一个遗传学.
- 基因组学就是基因组学.
- 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:
- 全基因组关联研究 (GWAS) 已经确定了与人类特征相关的众多序列变异.
- 父母起源对这些变体影响的影响在很大程度上被忽视了.
- 了解父母遗传模式对于全面的遗传分析至关重要.
研究的目的:
- 调查父母起源对单核酸多态 (SNP) 与疾病相关性的影响.
- 在印记基因区域内识别父特异性遗传关联.
- 探索新的SNP关联及其表观遗传修饰.
主要方法:
- 利用基因谱和远程分期来确定38167名冰岛人基因型的父母等位基因起源.
- 专注于印制基因和已知的疾病关联的500千基基底内的SNP.
- 检查了七个独立的SNP协会,包括乳腺癌,基底细胞癌和2型糖尿病.
主要成果:
- 在七个被检查的SNP中,有五个确定了特定于家长来源的协会.
- 这些父特异性关联集中在两个已知印制基因的基因组区域 (11p15和7q32).
- 发现了SNP rs2334499 (11p15) 和2型糖尿病之间的新兴关联,基于父或母的遗传,具有相反的影响.
- 发现在11p15处的差异甲基化CTCF结合部位与rs2334499相关,并且改变了甲基化模式.
结论:
- 父母的起源显著影响某些遗传变异的疾病相关影响.
- 印记基因区域是父母特异性遗传效应的关键位置.
- 这些发现强调了在遗传关联研究和疾病风险评估中考虑父母遗传的重要性.
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