New Common and Rare Variants Influencing Metabolic Syndrome and Its Individual Components in a Korean Population

Abstract To identify novel loci for susceptibility to MetS, we conducted genome-wide association and exome wide association studies consisting of a discovery stage cohort (KARE, 1946 cases and 6427 controls), and a replication stage cohort (HEXA, 430 cases and 3,264 controls). For finding genetic va...

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Autores principales:	Ho-Sun Lee, Yongkang Kim, Taesung Park
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2018
Materias:	Medicine R Science Q
Acceso en línea:	https://doaj.org/article/1a1768ebb8e446ad8bc27c6905e8766a
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spelling	oai:doaj.org-article:1a1768ebb8e446ad8bc27c6905e8766a2021-12-02T15:08:03ZNew Common and Rare Variants Influencing Metabolic Syndrome and Its Individual Components in a Korean Population10.1038/s41598-018-23074-22045-2322https://doaj.org/article/1a1768ebb8e446ad8bc27c6905e8766a2018-04-01T00:00:00Zhttps://doi.org/10.1038/s41598-018-23074-2https://doaj.org/toc/2045-2322Abstract To identify novel loci for susceptibility to MetS, we conducted genome-wide association and exome wide association studies consisting of a discovery stage cohort (KARE, 1946 cases and 6427 controls), and a replication stage cohort (HEXA, 430 cases and 3,264 controls). For finding genetic variants for MetS, with its components, we performed multivariate analysis for common and rare associations, using a standard logistic regression analysis for MetS. From the discovery and replication GWA studies, we confirmed 21 genome-wide signals significantly associated with MetS. Of these 21, four were previously unreported to associate with any MetS components: rs765547 near LPL; rs3782889 in MYL2; and rs11065756 and rs10849915 in CCDC63. Using exome chip variants, gene-based analysis of rare variants revealed three genes, CETP, SH2B1, and ZFP2, in the discovery stage, among which only CETP was confirmed in the replication stage. Finally, CETP D442G (rs2303790) associated, as a less common variant, with decreased risk of MetS. In conclusion, we discovered a total of five new MetS-associated loci, and their overlap with other disease-related components, suggest roles in the various etiologies of MetS, and its possible preventive strategies.Ho-Sun LeeYongkang KimTaesung ParkNature PortfolioarticleMedicineRScienceQENScientific Reports, Vol 8, Iss 1, Pp 1-7 (2018)
institution	DOAJ
collection	DOAJ
language	EN
topic	Medicine R Science Q
spellingShingle	Medicine R Science Q Ho-Sun Lee Yongkang Kim Taesung Park New Common and Rare Variants Influencing Metabolic Syndrome and Its Individual Components in a Korean Population
description	Abstract To identify novel loci for susceptibility to MetS, we conducted genome-wide association and exome wide association studies consisting of a discovery stage cohort (KARE, 1946 cases and 6427 controls), and a replication stage cohort (HEXA, 430 cases and 3,264 controls). For finding genetic variants for MetS, with its components, we performed multivariate analysis for common and rare associations, using a standard logistic regression analysis for MetS. From the discovery and replication GWA studies, we confirmed 21 genome-wide signals significantly associated with MetS. Of these 21, four were previously unreported to associate with any MetS components: rs765547 near LPL; rs3782889 in MYL2; and rs11065756 and rs10849915 in CCDC63. Using exome chip variants, gene-based analysis of rare variants revealed three genes, CETP, SH2B1, and ZFP2, in the discovery stage, among which only CETP was confirmed in the replication stage. Finally, CETP D442G (rs2303790) associated, as a less common variant, with decreased risk of MetS. In conclusion, we discovered a total of five new MetS-associated loci, and their overlap with other disease-related components, suggest roles in the various etiologies of MetS, and its possible preventive strategies.
format	article
author	Ho-Sun Lee Yongkang Kim Taesung Park
author_facet	Ho-Sun Lee Yongkang Kim Taesung Park
author_sort	Ho-Sun Lee
title	New Common and Rare Variants Influencing Metabolic Syndrome and Its Individual Components in a Korean Population
title_short	New Common and Rare Variants Influencing Metabolic Syndrome and Its Individual Components in a Korean Population
title_full	New Common and Rare Variants Influencing Metabolic Syndrome and Its Individual Components in a Korean Population
title_fullStr	New Common and Rare Variants Influencing Metabolic Syndrome and Its Individual Components in a Korean Population
title_full_unstemmed	New Common and Rare Variants Influencing Metabolic Syndrome and Its Individual Components in a Korean Population
title_sort	new common and rare variants influencing metabolic syndrome and its individual components in a korean population
publisher	Nature Portfolio
publishDate	2018
url	https://doaj.org/article/1a1768ebb8e446ad8bc27c6905e8766a
work_keys_str_mv	AT hosunlee newcommonandrarevariantsinfluencingmetabolicsyndromeanditsindividualcomponentsinakoreanpopulation AT yongkangkim newcommonandrarevariantsinfluencingmetabolicsyndromeanditsindividualcomponentsinakoreanpopulation AT taesungpark newcommonandrarevariantsinfluencingmetabolicsyndromeanditsindividualcomponentsinakoreanpopulation
_version_	1718388235959271424

New Common and Rare Variants Influencing Metabolic Syndrome and Its Individual Components in a Korean Population

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