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The framework for population epigenetic study

机译:人口表观遗传研究框架

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At present, understanding of DNA methylation at the population level is still limited. Here, we first extended the classical framework of population genetics, such as single nucleotide polymorphism allele frequency, linkage disequilibrium(LD), LD block and haplotype, to epigenetics. Then, as an example, we compared the DNA methylation disequilibrium (MD)maps between HapMap CEU (Caucasian residents of European ancestry from Utah) population and YRI (Yoruba people from Ibadan) population (lymphoblastoid cell lines). We analyzed the differences and similarities between CEU and YRI from the following aspects: SMP (single methylation polymorphism) allele frequency, SMP allele association, MD, MD block andmethylation haplotype (meplotype) frequency. The results showed that CEU and YRI had similar distribution of SMP allele frequency, and sharedmany MD block region.We believe that the framework of population genetics can be used in the population epigenetics. The population epigenetic framework also has potential prospects in the study of complex diseases, such as epigenome-wide association study.
机译:目前,在人口水平上了解DNA甲基化仍然有限。在这里,我们首先将群体遗传学的古典框架扩展,例如单核苷酸多态性等位基因频率,连杆不平衡(LD),LD嵌段和单倍型,对外形遗传学。然后,作为一个例子,我们将HapMap Ceu(来自犹他州欧洲祖先的白种人居民)之间的DNA甲基化不平衡(MD)图与人群和YRI(来自Ibadan的Yoruba人)(淋巴细胞系细胞系)进行了比较。我们通过以下几个方面分析了CEU和YRI之间的差异和相似性:SMP(单甲基化多态性)等位基因频率,SMP等位基因缔置,MD,MD嵌段和甲基化单倍型(Muplotype)频率。结果表明,CEU和YRI具有类似的SMP等位基因频率分布,而Sharedmany MD块区域。我们认为群体遗传学框架可用于人口表观遗传学。人口表观遗传框架还具有在复杂疾病的研究中具有潜在的前景,例如简血杂种协会研究。

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