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

アクセス数:2,397件（2025-07-18 10:13 集計）

固定URL: https://hdl.handle.net/11094/93746

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タイトル	Rigorous evaluation of genetic and epigenetic effects on clinical laboratory measurements using Japanese monozygotic twins
著者	著者名 Taniguchi, Jumpei
	著者名 Masuda, Tatsuo
	NRID 1000060168581 1000060168581 researchmap permalink read0013695 read0013695 著者名 Iwatani, Yoshinori
	researchmap permalink KenichiYamamotoPed KenichiYamamotoPed Scopus Author ID 57204724143 57204724143 NRID 1000090875585 1000090875585 ORCID 0000-0001-9594-7050 0000-0001-9594-7050 著者名 Yamamoto, Kenichi
	NRID 1000020359847 1000020359847 researchmap permalink mtakahas mtakahas Scopus Author ID 15038719500 15038719500 著者名 Takahashi, Masanori
	NRID 1000040415526 1000040415526 researchmap permalink 551214 551214 Scopus Author ID 55822203900 55822203900 著者名 Nishio, Teiji
	NRID 1000080393239 1000080393239 researchmap permalink kamide kamide Scopus Author ID 7102978326 7102978326 ORCID 0000-0003-1720-2218 0000-0003-1720-2218 著者名 Kamide, Kei
	NRID 1000020332736 1000020332736 researchmap permalink shinjikihara shinjikihara Scopus Author ID 7103047729 7103047729 著者名 Kihara, Shinji
	NRID 1000020315857 1000020315857 researchmap permalink tsukahiro1004 tsukahiro1004 Scopus Author ID 55738353700 55738353700 著者名 Watanabe, Hiroko
	NRID 1000010709562 1000010709562 ORCID 0000-0002-8398-3334 0000-0002-8398-3334 researchmap permalink dousatsu dousatsu 著者名 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 著者名 Sakai, Norio
	NRID 1000070727411 1000070727411 ORCID 0000-0002-0311-8472 0000-0002-0311-8472 researchmap permalink yokada yokada Scopus Author ID 35976475900 35976475900 著者名 Okada, Yukinori
	NRID 1000050294088 1000050294088 ORCID 0000-0001-5971-9296 0000-0001-5971-9296 researchmap permalink watanabemikio watanabemikio Scopus Author ID 55793188612 55793188612 著者名 Watanabe, Mikio
キーワード等	environmental factor
	epigenetic factor
	genetic factor
	laboratory test
	monozygotic twin
内容	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.
抄録	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.
出版者	John Wiley and Sons Inc
収録物名	Clinical Genetics
巻(号)	105(2)
ページ	159-172
刊行年月	2024-02-01
言語	英語
ハンドルURL	https://hdl.handle.net/11094/93746
PISSN	00099163
eISSN	13990004
関連情報 (isVersionOf)	DOI (出版社版) https://doi.org/10.1111/cge.14443
アクセス権	open access
権利情報	© 2023 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.
出版タイプ	Accepted Manuscript
カテゴリ	学術雑誌論文 Journal Article

資源タイプ	学術雑誌論文
ローカル資源タイプ	学術雑誌論文
DCMI資源タイプ	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	英語
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	英語
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

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