Association Study of Genetic Variants in Calcium Signaling-Related Genes With Cardiovascular Diseases

Background: Calcium ions (Ca2+) play an essential role in excitation–contraction coupling in the heart. The association between cardiovascular diseases (CVDs) and genetic polymorphisms in key regulators of Ca2+ homeostasis is well established but still inadequately understood.Methods: The associatio...

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Autores principales:	Sen Li, Zhaoqi Jia, Zhang Zhang, Yuxin Li, Meihui Yan, Tingting Yu
Formato:	article
Lenguaje:	EN
Publicado:	Frontiers Media S.A. 2021
Materias:	genetic polymorphism calcium cardiovascular diseases cardiovascular risk factors PheWAS Biology (General) QH301-705.5
Acceso en línea:	https://doaj.org/article/f63b174a51cb4e7ca9b9be5cb2a2a2b3
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spelling	oai:doaj.org-article:f63b174a51cb4e7ca9b9be5cb2a2a2b32021-12-01T11:32:59ZAssociation Study of Genetic Variants in Calcium Signaling-Related Genes With Cardiovascular Diseases2296-634X10.3389/fcell.2021.642141https://doaj.org/article/f63b174a51cb4e7ca9b9be5cb2a2a2b32021-11-01T00:00:00Zhttps://www.frontiersin.org/articles/10.3389/fcell.2021.642141/fullhttps://doaj.org/toc/2296-634XBackground: Calcium ions (Ca2+) play an essential role in excitation–contraction coupling in the heart. The association between cardiovascular diseases (CVDs) and genetic polymorphisms in key regulators of Ca2+ homeostasis is well established but still inadequately understood.Methods: The associations of 11,274 genetic variants located in nine calcium signaling-related genes with 118 diseases of the circulatory system were explored using a large sample from the United Kingdom Biobank (N = 308,366). The clinical outcomes in electronic health records were mapped to the phecode system. Survival analyses were employed to study the role of variants in CVDs incidence and mortality. Phenome-wide association studies (PheWAS) were performed to investigate the effect of variants on cardiovascular risk factors.Results: The reported association between rs1801253 in β1-adrenergic receptor (ADRB1) and hypertension was successfully replicated, and we additionally found the blood pressure-lowering G allele of this variant was associated with a delayed onset of hypertension and a decreased level of apolipoprotein A. The association of rs4484922 in calsequestrin 2 (CASQ2) with atrial fibrillation/flutter was identified, and this variant also displayed nominal evidence of association with QRS duration and carotid intima-medial thickness. Moreover, our results indicated suggestive associations of rs79613429 in ryanodine receptor 2 (RYR2) with precordial pain.Conclusion: Multiple novel associations established in our study highlight genetic testing as a useful method for CVDs diagnosis and prevention.Sen LiZhaoqi JiaZhang ZhangYuxin LiMeihui YanTingting YuFrontiers Media S.A.articlegenetic polymorphismcalciumcardiovascular diseasescardiovascular risk factorsPheWASBiology (General)QH301-705.5ENFrontiers in Cell and Developmental Biology, Vol 9 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	genetic polymorphism calcium cardiovascular diseases cardiovascular risk factors PheWAS Biology (General) QH301-705.5
spellingShingle	genetic polymorphism calcium cardiovascular diseases cardiovascular risk factors PheWAS Biology (General) QH301-705.5 Sen Li Zhaoqi Jia Zhang Zhang Yuxin Li Meihui Yan Tingting Yu Association Study of Genetic Variants in Calcium Signaling-Related Genes With Cardiovascular Diseases
description	Background: Calcium ions (Ca2+) play an essential role in excitation–contraction coupling in the heart. The association between cardiovascular diseases (CVDs) and genetic polymorphisms in key regulators of Ca2+ homeostasis is well established but still inadequately understood.Methods: The associations of 11,274 genetic variants located in nine calcium signaling-related genes with 118 diseases of the circulatory system were explored using a large sample from the United Kingdom Biobank (N = 308,366). The clinical outcomes in electronic health records were mapped to the phecode system. Survival analyses were employed to study the role of variants in CVDs incidence and mortality. Phenome-wide association studies (PheWAS) were performed to investigate the effect of variants on cardiovascular risk factors.Results: The reported association between rs1801253 in β1-adrenergic receptor (ADRB1) and hypertension was successfully replicated, and we additionally found the blood pressure-lowering G allele of this variant was associated with a delayed onset of hypertension and a decreased level of apolipoprotein A. The association of rs4484922 in calsequestrin 2 (CASQ2) with atrial fibrillation/flutter was identified, and this variant also displayed nominal evidence of association with QRS duration and carotid intima-medial thickness. Moreover, our results indicated suggestive associations of rs79613429 in ryanodine receptor 2 (RYR2) with precordial pain.Conclusion: Multiple novel associations established in our study highlight genetic testing as a useful method for CVDs diagnosis and prevention.
format	article
author	Sen Li Zhaoqi Jia Zhang Zhang Yuxin Li Meihui Yan Tingting Yu
author_facet	Sen Li Zhaoqi Jia Zhang Zhang Yuxin Li Meihui Yan Tingting Yu
author_sort	Sen Li
title	Association Study of Genetic Variants in Calcium Signaling-Related Genes With Cardiovascular Diseases
title_short	Association Study of Genetic Variants in Calcium Signaling-Related Genes With Cardiovascular Diseases
title_full	Association Study of Genetic Variants in Calcium Signaling-Related Genes With Cardiovascular Diseases
title_fullStr	Association Study of Genetic Variants in Calcium Signaling-Related Genes With Cardiovascular Diseases
title_full_unstemmed	Association Study of Genetic Variants in Calcium Signaling-Related Genes With Cardiovascular Diseases
title_sort	association study of genetic variants in calcium signaling-related genes with cardiovascular diseases
publisher	Frontiers Media S.A.
publishDate	2021
url	https://doaj.org/article/f63b174a51cb4e7ca9b9be5cb2a2a2b3
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Association Study of Genetic Variants in Calcium Signaling-Related Genes With Cardiovascular Diseases

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