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    Rare coding variants in RCN3 are associated with blood pressure.

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    Author
    He, Karen Y
    Kelly, Tanika N
    Wang, Heming
    Liang, Jingjing
    Zhu, Luke
    Cade, Brian E
    Assimes, Themistocles L
    Becker, Lewis C
    Beitelshees, Amber L
    Bielak, Lawrence F
    Bress, Adam P
    Brody, Jennifer A
    Chang, Yen-Pei Christy
    Chang, Yi-Cheng
    de Vries, Paul S
    Duggirala, Ravindranath
    Fox, Ervin R
    Franceschini, Nora
    Furniss, Anna L
    Gao, Yan
    Guo, Xiuqing
    Haessler, Jeffrey
    Hung, Yi-Jen
    Hwang, Shih-Jen
    Irvin, Marguerite Ryan
    Kalyani, Rita R
    Liu, Ching-Ti
    Liu, Chunyu
    Martin, Lisa Warsinger
    Montasser, May E
    Muntner, Paul M
    Mwasongwe, Stanford
    Naseri, Take
    Palmas, Walter
    Reupena, Muagututi'a Sefuiva
    Rice, Kenneth M
    Sheu, Wayne H-H
    Shimbo, Daichi
    Smith, Jennifer A
    Snively, Beverly M
    Yanek, Lisa R
    Zhao, Wei
    Blangero, John
    Boerwinkle, Eric
    Chen, Yii-Der Ida
    Correa, Adolfo
    Cupples, L Adrienne
    Curran, Joanne E
    Fornage, Myriam
    He, Jiang
    Hou, Lifang
    Kaplan, Robert C
    Kardia, Sharon L R
    Kenny, Eimear E
    Kooperberg, Charles
    Lloyd-Jones, Donald
    Loos, Ruth J F
    Mathias, Rasika A
    McGarvey, Stephen T
    Mitchell, Braxton D
    North, Kari E
    Peyser, Patricia A
    Psaty, Bruce M
    Raffield, Laura M
    Rao, D C
    Redline, Susan
    Reiner, Alex P
    Rich, Stephen S
    Rotter, Jerome I
    Taylor, Kent D
    Tracy, Russell
    Vasan, Ramachandran S
    Morrison, Alanna C
    Levy, Daniel
    Chakravarti, Aravinda
    Arnett, Donna K
    Zhu, Xiaofeng
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    Date
    2022-02-19
    Journal
    BMC Genomics
    Publisher
    Springer Nature
    Type
    Article
    
    Metadata
    Show full item record
    See at
    https://doi.org/10.1186/s12864-022-08356-4
    Abstract
    Background: While large genome-wide association studies have identified nearly one thousand loci associated with variation in blood pressure, rare variant identification is still a challenge. In family-based cohorts, genome-wide linkage scans have been successful in identifying rare genetic variants for blood pressure. This study aims to identify low frequency and rare genetic variants within previously reported linkage regions on chromosomes 1 and 19 in African American families from the Trans-Omics for Precision Medicine (TOPMed) program. Genetic association analyses weighted by linkage evidence were completed with whole genome sequencing data within and across TOPMed ancestral groups consisting of 60,388 individuals of European, African, East Asian, Hispanic, and Samoan ancestries. Results: Associations of low frequency and rare variants in RCN3 and multiple other genes were observed for blood pressure traits in TOPMed samples. The association of low frequency and rare coding variants in RCN3 was further replicated in UK Biobank samples (N = 403,522), and reached genome-wide significance for diastolic blood pressure (p = 2.01 × 10- 7). Conclusions: Low frequency and rare variants in RCN3 contributes blood pressure variation. This study demonstrates that focusing association analyses in linkage regions greatly reduces multiple-testing burden and improves power to identify novel rare variants associated with blood pressure traits.
    Rights/Terms
    © 2022. The Author(s).
    Keyword
    Blood pressure
    Rare variant analysis
    Whole genome sequencing
    Identifier to cite or link to this item
    http://hdl.handle.net/10713/18094
    ae974a485f413a2113503eed53cd6c53
    10.1186/s12864-022-08356-4
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