Rigorous evaluation of genetic and epigenetic effects on clinical laboratory measurements using Japanese monozygotic twins

Taniguchi, Jumpei; Masuda, Tatsuo; Iwatani, Yoshinori; Yamamoto, Kenichi; Takahashi, Masanori; Nishio, Teiji; Kamide, Kei; Kihara, Shinji; Watanabe, Hiroko; Sakata, Dousatsu; Sakai, Norio; Okada, Yukinori; Watanabe, Mikio

doi:https://doi.org/10.1111/cge.14443

Rigorous evaluation of genetic and epigenetic effects on clinical laboratory measurements using Japanese monozygotic twins

Taniguchi, Jumpei; Masuda, Tatsuo; Iwatani, Yoshinori et al.

Clinical Genetics, 2024, 105(2), 159-172

Number of Access:2,478（2025-07-30 14:57 Counts）

Identifier to cite or link to this item: https://hdl.handle.net/11094/93746

Link to primary information

File	Format	Terms of use	Size	Views	Date.Available	Description	information
ClinGenet_105_2_159	pdf	None	896 KB	28	2025.02.01

Item Information

Output File Export EndNote Basic Export Mendeley

Title	Rigorous evaluation of genetic and epigenetic effects on clinical laboratory measurements using Japanese monozygotic twins
Creator	CreatorName Taniguchi, Jumpei
	CreatorName Masuda, Tatsuo
	NRID 1000060168581 1000060168581 researchmap permalink read0013695 read0013695 CreatorName Iwatani, Yoshinori
	researchmap permalink KenichiYamamotoPed KenichiYamamotoPed Scopus Author ID 57204724143 57204724143 NRID 1000090875585 1000090875585 ORCID 0000-0001-9594-7050 0000-0001-9594-7050 CreatorName Yamamoto, Kenichi
	NRID 1000020359847 1000020359847 researchmap permalink mtakahas mtakahas Scopus Author ID 15038719500 15038719500 CreatorName Takahashi, Masanori
	NRID 1000040415526 1000040415526 researchmap permalink 551214 551214 Scopus Author ID 55822203900 55822203900 CreatorName Nishio, Teiji
	NRID 1000080393239 1000080393239 researchmap permalink kamide kamide Scopus Author ID 7102978326 7102978326 ORCID 0000-0003-1720-2218 0000-0003-1720-2218 CreatorName Kamide, Kei
	NRID 1000020332736 1000020332736 researchmap permalink shinjikihara shinjikihara Scopus Author ID 7103047729 7103047729 CreatorName Kihara, Shinji
	NRID 1000020315857 1000020315857 researchmap permalink tsukahiro1004 tsukahiro1004 Scopus Author ID 55738353700 55738353700 CreatorName Watanabe, Hiroko
	NRID 1000010709562 1000010709562 ORCID 0000-0002-8398-3334 0000-0002-8398-3334 researchmap permalink dousatsu dousatsu CreatorName Sakata, Dousatsu
	NRID 1000030314313 1000030314313 ORCID 0000-0003-0722-4800 0000-0003-0722-4800 researchmap permalink norio_sakai1121 norio_sakai1121 Scopus Author ID 56672384000 56672384000 CreatorName Sakai, Norio
	NRID 1000070727411 1000070727411 ORCID 0000-0002-0311-8472 0000-0002-0311-8472 researchmap permalink yokada yokada Scopus Author ID 35976475900 35976475900 CreatorName Okada, Yukinori
	NRID 1000050294088 1000050294088 ORCID 0000-0001-5971-9296 0000-0001-5971-9296 researchmap permalink watanabemikio watanabemikio Scopus Author ID 55793188612 55793188612 CreatorName Watanabe, Mikio
Subject	environmental factor
	epigenetic factor
	genetic factor
	laboratory test
	monozygotic twin
Description	This is the peer reviewed version of the following article: Taniguchi J., Masuda T., Iwatani Y., et al. Rigorous evaluation of genetic and epigenetic effects on clinical laboratory measurements using Japanese monozygotic twins. Clinical Genetics 105, 159 (2024), which has been published in final form at https://doi.org/10.1111/cge.14443. This article may be used for non-commercial purposes in accordance with Wiley Terms and Conditions for Self-Archiving. This article may not be enhanced, enriched or otherwise transformed into a derivative work, without express permission from Wiley or by statutory rights under applicable legislation. Copyright notices must not be removed, obscured or modified. The article must be linked to Wiley’s version of record on Wiley Online Library and any embedding, framing or otherwise making available the article or pages thereof by third parties from platforms, services and websites other than Wiley Online Library must be prohibited.
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.
Publisher	John Wiley and Sons Inc
Source Title	Clinical Genetics
Volume (Issue)	105(2)
Page	159-172
Date of Issued	2024-02-01
Language	English
Handle URL	https://hdl.handle.net/11094/93746
PISSN	00099163
eISSN	13990004
Relation.isVersionOf	DOI (Publisher Version) https://doi.org/10.1111/cge.14443
Access Rights	open access
CopyRight	© 2023 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.
oaire:version	Accepted Manuscript
Category	学術雑誌論文 Journal Article

Resource Type	journal article
Local Type	Journal Article
DCMI Type	Text
DCTERMS.bibliographicCitation	Clinical Genetics. 2024, 105(2), p. 159-172
DC.title	Rigorous evaluation of genetic and epigenetic effects on clinical laboratory measurements using Japanese monozygotic twins
DC.creator	Taniguchi, Jumpei
	Masuda, Tatsuo
	Iwatani, Yoshinori
	Yamamoto, Kenichi
	Takahashi, Masanori
	Nishio, Teiji
	Kamide, Kei
	Kihara, Shinji
	Watanabe, Hiroko
	Sakata, Dousatsu
	Sakai, Norio
	Okada, Yukinori
	Watanabe, Mikio
DC.publisher	John Wiley and Sons Inc
DC.language' scheme='DCTERMS.RFC1766	English
DC.type' scheme='DCTERMS.DCMIType	Text
DCTERMS.issued' scheme='DCTERMS.W3CDTF	2024-02-01
DC.identifier	https://doi.org/10.1111/cge.14443
DC.subject	environmental factor
	epigenetic factor
	genetic factor
	laboratory test
	monozygotic twin
DC.description	This is the peer reviewed version of the following article: Taniguchi J., Masuda T., Iwatani Y., et al. Rigorous evaluation of genetic and epigenetic effects on clinical laboratory measurements using Japanese monozygotic twins. Clinical Genetics 105, 159 (2024), which has been published in final form at https://doi.org/10.1111/cge.14443. This article may be used for non-commercial purposes in accordance with Wiley Terms and Conditions for Self-Archiving. This article may not be enhanced, enriched or otherwise transformed into a derivative work, without express permission from Wiley or by statutory rights under applicable legislation. Copyright notices must not be removed, obscured or modified. The article must be linked to Wiley’s version of record on Wiley Online Library and any embedding, framing or otherwise making available the article or pages thereof by third parties from platforms, services and websites other than Wiley Online Library must be prohibited.
DCTERMS.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.
DC.rights	© 2023 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.
DC.format	93746
citation_title	Rigorous evaluation of genetic and epigenetic effects on clinical laboratory measurements using Japanese monozygotic twins
citation_author	Taniguchi, Jumpei
	Masuda, Tatsuo
	Iwatani, Yoshinori
	Yamamoto, Kenichi
	Takahashi, Masanori
	Nishio, Teiji
	Kamide, Kei
	Kihara, Shinji
	Watanabe, Hiroko
	Sakata, Dousatsu
	Sakai, Norio
	Okada, Yukinori
	Watanabe, Mikio
citation_publisher	John Wiley and Sons Inc
citation_language	English
citation_date	2024-02-01
citation_journal_title	Clinical Genetics
citation_volume	105
citation_issue	2
citation_firstpage	159
citation_lastpage	172
citation_doi	https://doi.org/10.1111/cge.14443
citation_public_url	https://hdl.handle.net/11094/93746

Rigorous evaluation of genetic and epigenetic effects on clinical laboratory measurements using Japanese monozygotic twins

Link to primary information

Item Information

Show details