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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<5x10-8. Twenty-nine SNPs and nine chromosomal regions were identified in 30 previous GWASs, with effect sizes of similar magnitude and direction as found in our cohort. The two strongest associations were SNP rs1354034 with MPV (p = 2.4x10-13) and rs855791 with MCV (p = 5.2x10-12). We then examined possible associations between these significant SNPs and incidence of 1,488 phenotype groups mapped from International Classification of Disease version 9 and 10 (ICD9 and ICD10) codes collected in the extensive electronic health record (EHR) database associated with Healthy Nevada Project consented participants. Further leveraging data collected in the EHR, we performed an additional PheWAS to identify associations between continuous red blood cell (RBC) component measures and incidence of specific diagnoses. The first PheWAS illuminated whether SNPs associated with RBC components in our cohort were linked with other hematologic phenotypic diagnoses or diagnoses of other nature. Although no SNPs from our GWAS were identified as strongly associated to other phenotypic components, a number of associations were identified with p-values ranging between 1x10-3 and 1x10-4 with traits such as respiratory failure, sleep disorders, hypoglycemia, hyperglyceridemia, GERD and IBS. The second PheWAS examined possible phenotypic predictors of abnormal RBC component measures: a number of hematologic phenotypes such as thrombocytopenia, anemias, hemoglobinopathies and pancytopenia were found to be strongly associated to RBC component measures; additional phenotypes such as (morbid) obesity, malaise and fatigue, alcoholism, and cirrhosis were also identified to be possible predictors of RBC component measures.
This article was published in the following journal.
Name: PloS one
To evaluate the influence of disease-related findings and treatment outcomes on survival in a population-based cohort of Northern Italian patients with GCA.
Re-infusion of washed autologous blood cell salvage from the operative field and wound drainages is used as part of blood conservation strategy within Patient Blood Management (PBM). Cell salvage is a...
Optimal red blood cell (RBC) transfusion thresholds in acute brain injury (ABI) are poorly defined.
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The routine pretransfusion investigations in Southern Ghana involve only ABO-D blood group typing and ABO compatibility testing without screening for irregular red blood cell (RBC) antibodies. The pre...
Performing a phenome-wide association study (PheWAS) identifying clinical diagnoses associated with a polygenic predictor of Thyroid stimulating hormone (TSH) levels identified by a previo...
Sickle cell anemia and sickle cell thalassemia are frequent diseases among the israeli arab population. The purpose of this study is to assess the clinical characteristics of the patients ...
The aim of this study is to determine if the use of a modular dual mobility bearing is associated with clinically important increases in serum metal levels.
A visual function focused add-on study to the Northern Ireland Cohort for the Longitudinal Study of Ageing (NICOLA). There are three key aims: 1. Quantify age-related decline in a varie...
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Variation in health status arising from different causal factors to which each birth cohort in a population is exposed as environment and society change.
Components of a cell produced by various separation techniques which, though they disrupt the delicate anatomy of a cell, preserve the structure and physiology of its functioning constituents for biochemical and ultrastructural analysis. (From Alberts et al., Molecular Biology of the Cell, 2d ed, p163)
Components of the B-cell antigen receptor that function in B-cell antigen receptor heavy chain transport to the PLASMA MEMBRANE. They are expressed almost exclusively by B-LYMPHOCYTES and are markers for B-cell NEOPLASMS.
Components of a cell.
The northern one-sixth of the island of Ireland - between the North Atlantic Ocean and the North Sea; northwest of France. The capital is Belfast.
Bioinformatics is the application of computer software and hardware to the management of biological data to create useful information. Computers are used to gather, store, analyze and integrate biological and genetic information which can then be applied...