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Tytuł pozycji:

Rare genetic variant analysis on blood pressure in related samples.

Tytuł:
Rare genetic variant analysis on blood pressure in related samples.
Autorzy:
Chen H; Department of Biostatistics, Boston University School of Public Health, 801 Massachusetts Avenue, Boston, MA 02118, USA.
Choi SH; Department of Biostatistics, Boston University School of Public Health, 801 Massachusetts Avenue, Boston, MA 02118, USA.
Hong J; Department of Biostatistics, Boston University School of Public Health, 801 Massachusetts Avenue, Boston, MA 02118, USA.
Lu C; Department of Biostatistics, Boston University School of Public Health, 801 Massachusetts Avenue, Boston, MA 02118, USA.
Milton JN; Department of Biostatistics, Boston University School of Public Health, 801 Massachusetts Avenue, Boston, MA 02118, USA.
Allard C; Département de Mathématiques, Université de Sherbrooke, 2500 Boulevard de l'Université, Sherbrooke, QC J1K 2R1, Canada.
Lacey SM; Department of Biostatistics, Boston University School of Public Health, 801 Massachusetts Avenue, Boston, MA 02118, USA.
Lin H; Department of Medicine, Boston University School of Medicine, 72 East Concord Street, Boston, MA 02118, USA.
Dupuis J; Department of Biostatistics, Boston University School of Public Health, 801 Massachusetts Avenue, Boston, MA 02118, USA.
Źródło:
BMC proceedings [BMC Proc] 2014 Jun 17; Vol. 8 (Suppl 1), pp. S35. Date of Electronic Publication: 2014 Jun 17 (Print Publication: 2014).
Typ publikacji:
Journal Article
Język:
English
Imprint Name(s):
Original Publication: [London] : BioMed Central
References:
Genet Epidemiol. 2005 Feb;28(2):97-109. (PMID: 15532036)
Nat Genet. 2011 Sep 11;43(10):1005-11. (PMID: 21909110)
Genet Epidemiol. 2013 Feb;37(2):196-204. (PMID: 23280576)
Nat Genet. 2009 Jun;41(6):677-87. (PMID: 19430479)
Am J Physiol Heart Circ Physiol. 2005 Mar;288(3):H1193-202. (PMID: 15528234)
Nat Genet. 2009 Jun;41(6):666-76. (PMID: 19430483)
Am J Hum Genet. 2011 Jul 15;89(1):82-93. (PMID: 21737059)
Genet Epidemiol. 2012 Dec;36(8):797-810. (PMID: 22968922)
Grant Information:
R01 GM031575 United States GM NIGMS NIH HHS
Entry Date(s):
Date Created: 20141219 Date Completed: 20141218 Latest Revision: 20200930
Update Code:
20240104
PubMed Central ID:
PMC4143757
DOI:
10.1186/1753-6561-8-S1-S35
PMID:
25519320
Czasopismo naukowe
The genetic variants associated with blood pressure identified so far explain only a small proportion of the total heritability of this trait. With recent advances in sequencing technology and statistical methodology, it becomes feasible to study the association between blood pressure and rare genetic variants. Using real baseline phenotype data and imputed dosage data from Genetic Analysis Workshop 18, we performed a candidate gene association analysis. We focused on 8 genes shown to be associated with either systolic or diastolic blood pressure to identify the association with both common and rare genetic variants, and then did a genome-wide rare-variant analysis on blood pressure. We performed association analysis for rare coding and splicing variants within each gene region and all rare variants in each sliding window, using either burden tests or sequence kernel association tests accounting for familial correlation. With a sample size of only 747, we failed to find any novel associated genetic loci. Consequently, we performed analyses on simulated data, with knowledge of the underlying simulating model, to evaluate the type I error rate and power for the methods used in real data analysis.

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