GWAS and PheWAS of red blood cell components in a Northern Nevadan cohort

In this study, we perform a full genome-wide association study (GWAS) to identify statistically significantly associated single nucleotide polymorphisms (SNPs) with three red blood cell (RBC) components and follow it with two independent PheWASs to examine associations between phenotypic data (case-...

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Bibliographic Details
Published in:PloS one 2019-06, Vol.14 (6), p.e0218078-e0218078
Main Authors: Read, Robert W, Schlauch, Karen A, Elhanan, Gai, Metcalf, William J, Slonim, Anthony D, Aweti, Ramsey, Borkowski, Robert, Grzymski, Joseph J
Format: Article
Language:English
Subjects:
Adult
Alcoholism
Altitude
Anemia
Biology and Life Sciences
Blood
Blood platelets
Chromosome Mapping
Chromosomes
Chronic fatigue syndrome
Cirrhosis
Cohort Studies
Composition
Deoxyribonucleic acid
Disease control
DNA
Drug abuse
Electronic health records
Electronic medical records
Electronic records
Erythrocytes
Erythrocytes - cytology
Female
Gastroesophageal reflux
Genetic aspects
Genetic polymorphisms
Genome-wide association studies
Genome-Wide Association Study
Genomes
Genomics
Genotype
Genotypes
Health aspects
Hemoglobinopathies
Humans
Hypoglycemia
Identification and classification
Incidence
Infimum
Liver cirrhosis
Liver diseases
Male
Medical records
Medicine and Health Sciences
Metabolic syndrome
Middle Aged
Nevada
Obesity
Pancytopenia
Phenotype
Phenotypes
Platelets
Polymorphism, Single Nucleotide
Publishing
Quality control
Red blood cells
Respiratory failure
Respiratory insufficiency
Single nucleotide polymorphisms
Single-nucleotide polymorphism
Sleep
Sleep disorders
Social Sciences
Studies
Thrombocytopenia
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Summary:In this study, we perform a full genome-wide association study (GWAS) to identify statistically significantly associated single nucleotide polymorphisms (SNPs) with three red blood cell (RBC) components and follow it with two independent PheWASs to examine associations between phenotypic data (case-control status of diagnoses or disease), significant SNPs, and RBC component levels. We first identified associations between the three RBC components: mean platelet volume (MPV), mean corpuscular volume (MCV), and platelet counts (PC), and the genotypes of approximately 500,000 SNPs on the Illumina Infimum DNA Human OmniExpress-24 BeadChip using a single cohort of 4,673 Northern Nevadans. Twenty-one SNPs in five major genomic regions were found to be statistically significantly associated with MPV, two regions with MCV, and one region with PC, with p
ISSN:1932-6203
1932-6203
DOI:10.1371/journal.pone.0218078