Department of Neonatology, Beth Israel Deaconess Medical Center & Division of Newborn Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
Epigenomics. 2013 Jun;5(3):271-81. doi: 10.2217/epi.13.24.
We examined the association between birth weight and methylation in the imprinted IGF/H19 loci, the nonimprinted gene NR3C1 and repetitive element DNA (LINE-1 and Alu).
MATERIALS & METHODS: We collected umbilical cord venous blood from 219 infants born in Mexico City (Mexico) as part of a prospective birth cohort study and analyzed DNA methylation using pyrosequencing.
Birth weight was not associated with DNA methylation of the regions studied. One of the CpG dinucleotides in the IGF2 imprinting control region (ICR)1 includes a potential C-T SNP. Among individuals with an absence of methylation at this site, probably due to a paternally inherited T allele, birth weight was associated with mean methylation status of both IGF2 ICR1 and ICR2. However, this association would not have survived adjustment for multiple testing.
While we did not detect an association between DNA methylation and birth weight, our study suggests a potential gene-epigene interaction between a T allele in the IGF2 ICR1 and methylation of ICRs of IGF2, and fetal growth.
我们研究了出生体重与印迹基因 IGF/H19 位点、非印迹基因 NR3C1 和重复元件 DNA（LINE-1 和 Alu）甲基化之间的关联。
我们收集了 219 名在墨西哥城出生的婴儿的脐带静脉血，这些婴儿是一项前瞻性出生队列研究的一部分，并使用焦磷酸测序分析了 DNA 甲基化。
出生体重与研究区域的 DNA 甲基化无关。IGF2 印迹控制区（ICR）1 中的一个 CpG 二核苷酸包含一个潜在的 C-T SNP。在这个位点没有甲基化的个体中，可能是由于从父亲那里遗传了 T 等位基因，出生体重与 IGF2 ICR1 和 ICR2 的平均甲基化状态都有关联。然而，这种关联在经过多次测试调整后就不再存在了。
虽然我们没有发现 DNA 甲基化与出生体重之间的关联，但我们的研究表明，IGF2 ICR1 中的 T 等位基因与 IGF2 的 ICR 甲基化以及胎儿生长之间可能存在基因-表观遗传相互作用。
