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Updated: Jul 12, 2025

Cell Lineage Analyses and Gene Function Studies Using Twin-spot MARCM
Published on: March 2, 2017
Rigorous evaluation of genetic and epigenetic effects on clinical laboratory measurements using Japanese monozygotic
Jumpei Taniguchi1, Tatsuo Masuda2, Yoshinori Iwatani1,3
1Department of Clinical Laboratory and Biomedical Sciences, Osaka University Graduate School of Medicine, Suita, Japan.
Abstract:
The investigation of environmental effects on clinical measurements using individual samples is challenging because their genetic and environmental factors are different. However, using monozygotic twins (MZ) makes it possible to investigate the influence of environmental factors as they have the same genetic factors within pairs because the difference in the clinical traits within the MZ mostly reflect the influence of environmental factors. We hypothesized that the within-pair differences in the traits that are strongly affected by genetic factors become larger after genetic risk score (GRS) correction. Using 278 Japanese MZ pairs, we compared the change in within-pair differences in each of the 45 normalized clinical measurements before and after GRS correction, and we also attempted to correct for the effects of genetic factors to identify Cytosine-phosphodiester-Guanine (CpG) sites in DNA sequences with epigenetic effects that are regulated by genetic factors. Five traits were classified into the high heritability group, which was strongly affected by genetic factors. CpG sites could be classified into three groups: regulated only by environmental factors, regulated by environmental factors masked by genetic factors, and regulated only by genetic factors. Our method has the potential to identify trait-related methylation sites that have not yet been discovered.
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