Background

Environmental exposure and genotype variation influence DNA methylation. Studies on the effects of genotype variation were performed mainly on European ancestries. We analyzed the genetic effects on cord blood methylation of Koreans.

Methods

As part of the Korean Exposome study project, DNA was extracted from 192 cord blood samples for analysis. Cord blood samples were genotyped via Asian Precision Medicine Research Array analysis and methylation was measured using the Methylation EPIC Beadchip kits. The associations between genotypes and CpG methylation were analyzed with matrix eQTL.

Results

Conditional analysis revealed 34,425 methylation quantitative trait loci (mQTLs), and trans-mQTLs constituted 7.2% of all the associated CpG sites. About 80% of the total trans-associations were trans-chromosomal and the related SNPs were concentrated on chromosome 19. According to the results of DAVID, cis-mQTL-related SNPs resulting in amino acid substitutions were related to signal peptides or glycosylation.

Conclusion

We identified genotype variations associated with DNA methylation in the cord blood obtained from Koreans.

中文翻译：

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韩国暴露研究中的甲基化定量性状基因座分析

背景

环境暴露和基因型变异会影响DNA甲基化。基因型变异影响的研究主要在欧洲祖先进行。我们分析了遗传对韩国人脐血甲基化的影响。

方法

作为韩国Exposome研究计划的一部分，从192个脐带血样本中提取了DNA进行分析。通过Asian Precision Medicine Research Array分析对脐带血样本进行基因分型，并使用甲基化EPIC Beadchip试剂盒测量甲基化。基因型与CpG甲基化之间的关联用矩阵eQTL分析。

结果

条件分析显示34,425个甲基化定量特征位点（mQTL），反式-mQTL占所有相关CpG位点的7.2％。总反式关联中约80％是反染色体的，相关的SNP集中在19号染色体上。根据DAVID的结果，导致氨基酸取代的顺式-mQTL相关的SNP与信号肽或糖基化有关。

结论

我们从韩国人的脐带血中鉴定了与DNA甲基化相关的基因型变异。