Pathway Association Studies Reveal Gene Loci and Pathway Networks that Associated With Plasma Cystatin C Levels

As a marker for glomerular filtration, plasma cystatin C level is used to evaluate kidney function. To decipher genetic factors that control the plasma cystatin C level, we performed genome-wide association and pathway association studies using United Kingdom Biobank data. One hundred fifteen loci y...

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Autores principales:	Hongxiao Jiao, Miaomiao Zhang, Yuan Zhang, Yaogang Wang, Wei-Dong Li
Formato:	article
Lenguaje:	EN
Publicado:	Frontiers Media S.A. 2021
Materias:	genome wide association pathway association studies genetics United Kingdom biobank cystatin C Genetics QH426-470
Acceso en línea:	https://doaj.org/article/ba9ad880ad904e5596550f2024377d96
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spelling	oai:doaj.org-article:ba9ad880ad904e5596550f2024377d962021-12-01T02:06:33ZPathway Association Studies Reveal Gene Loci and Pathway Networks that Associated With Plasma Cystatin C Levels1664-802110.3389/fgene.2021.711155https://doaj.org/article/ba9ad880ad904e5596550f2024377d962021-11-01T00:00:00Zhttps://www.frontiersin.org/articles/10.3389/fgene.2021.711155/fullhttps://doaj.org/toc/1664-8021As a marker for glomerular filtration, plasma cystatin C level is used to evaluate kidney function. To decipher genetic factors that control the plasma cystatin C level, we performed genome-wide association and pathway association studies using United Kingdom Biobank data. One hundred fifteen loci yielded p values less than 1 × 10−100, three genes (clusters) showed the most significant associations, including the CST8-CST9 cluster on chromosome 20, the SH2B3-ATXN2 gene region on chromosome 12, and the SHROOM3-CCDC158 gene region on chromosome 4. In pathway association studies, forty significant pathways had FDR (false discovery rate) and or FWER (family-wise error rate) ≤ 0.001: spermatogenesis, leukocyte trans-endothelial migration, cell adhesion, glycoprotein, membrane lipid, steroid metabolic process, and insulin signaling pathways were among the most significant pathways that associated with the plasma cystatin C levels. We also performed Genome-wide association studies for eGFR, top associated genes were largely overlapped with those for cystatin C.Hongxiao JiaoMiaomiao ZhangYuan ZhangYuan ZhangYaogang WangWei-Dong LiFrontiers Media S.A.articlegenome wide associationpathway association studiesgeneticsUnited Kingdom biobankcystatin CGeneticsQH426-470ENFrontiers in Genetics, Vol 12 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	genome wide association pathway association studies genetics United Kingdom biobank cystatin C Genetics QH426-470
spellingShingle	genome wide association pathway association studies genetics United Kingdom biobank cystatin C Genetics QH426-470 Hongxiao Jiao Miaomiao Zhang Yuan Zhang Yuan Zhang Yaogang Wang Wei-Dong Li Pathway Association Studies Reveal Gene Loci and Pathway Networks that Associated With Plasma Cystatin C Levels
description	As a marker for glomerular filtration, plasma cystatin C level is used to evaluate kidney function. To decipher genetic factors that control the plasma cystatin C level, we performed genome-wide association and pathway association studies using United Kingdom Biobank data. One hundred fifteen loci yielded p values less than 1 × 10−100, three genes (clusters) showed the most significant associations, including the CST8-CST9 cluster on chromosome 20, the SH2B3-ATXN2 gene region on chromosome 12, and the SHROOM3-CCDC158 gene region on chromosome 4. In pathway association studies, forty significant pathways had FDR (false discovery rate) and or FWER (family-wise error rate) ≤ 0.001: spermatogenesis, leukocyte trans-endothelial migration, cell adhesion, glycoprotein, membrane lipid, steroid metabolic process, and insulin signaling pathways were among the most significant pathways that associated with the plasma cystatin C levels. We also performed Genome-wide association studies for eGFR, top associated genes were largely overlapped with those for cystatin C.
format	article
author	Hongxiao Jiao Miaomiao Zhang Yuan Zhang Yuan Zhang Yaogang Wang Wei-Dong Li
author_facet	Hongxiao Jiao Miaomiao Zhang Yuan Zhang Yuan Zhang Yaogang Wang Wei-Dong Li
author_sort	Hongxiao Jiao
title	Pathway Association Studies Reveal Gene Loci and Pathway Networks that Associated With Plasma Cystatin C Levels
title_short	Pathway Association Studies Reveal Gene Loci and Pathway Networks that Associated With Plasma Cystatin C Levels
title_full	Pathway Association Studies Reveal Gene Loci and Pathway Networks that Associated With Plasma Cystatin C Levels
title_fullStr	Pathway Association Studies Reveal Gene Loci and Pathway Networks that Associated With Plasma Cystatin C Levels
title_full_unstemmed	Pathway Association Studies Reveal Gene Loci and Pathway Networks that Associated With Plasma Cystatin C Levels
title_sort	pathway association studies reveal gene loci and pathway networks that associated with plasma cystatin c levels
publisher	Frontiers Media S.A.
publishDate	2021
url	https://doaj.org/article/ba9ad880ad904e5596550f2024377d96
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Pathway Association Studies Reveal Gene Loci and Pathway Networks that Associated With Plasma Cystatin C Levels

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