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Variance quantitative trait loci reveal gene-gene interactions which alter blood traits.
medRxiv
September 2024
Vanderbilt Genetics Institute, Vanderbilt University, Nashville, TN, USA.
Article Synopsis
- Gene-gene interactions (GxG) are crucial for understanding the genetic basis of traits and diseases, helping to explain the "missing heritability" in both polygenic and monogenic traits in humans.* -
- Researchers employed two variance QTL (vQTL) methods to uncover GxG interactions linked to human blood traits and disease risk, using data from large cohorts like the UK Biobank, NIH All of Us, and Vanderbilt BioVU.* -
- The study revealed significant GxG interactions, including known and novel ones affecting eosinophil and lymphocyte counts, as well as the risk of celiac disease and hematological conditions, showcasing the effectiveness of vQTL approaches in human health research.*
Germline genetic variants that predispose to myeloproliferative neoplasms and hereditary myeloproliferative phenotypes.
Leuk Res
November 2024
Centre for Cancer Biology, Alliance between SA Pathology and University of South Australia, Adelaide, Australia; Adelaide Medical School, Faculty of Health and Medical Sciences, University of Adelaide, Adelaide, Australia; Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, Australia.
Epidemiological evidence of familial predispositions to myeloid malignancies and myeloproliferative neoplasms (MPN) has long been recognised, but recent studies have added to knowledge of specific germline variants in multiple genes that contribute to the familial risk. These variants may be common risk alleles in the general population but have low penetrance and cause sporadic MPN, such as the JAK2 46/1 haplotype, the variant most strongly associated with MPN. Association studies are increasingly identifying other MPN susceptibility genes such as TERT, MECOM, and SH2B3, while some common variants in DDX41 and RUNX1 appear to lead to a spectrum of myeloid malignancies.
View Article and Find Full Text PDFExploring hematological alterations and genetics linked to SNV rs10974944 in myeloproliferative neoplasms among Amazon patients.
Sci Rep
April 2024
Programa de Pós-Graduação em Ciências Aplicadas à Hematologia, Universidade do Estado do Amazonas (UEA), Manaus, AM, 69850-000, Brazil.
BCR::ABL1-negative myeloproliferative neoplasms are hematopoietic disorders characterized by panmyelosis. JAK2 V617F is a frequent variant in these diseases and often occurs in the 46/1 haplotype. The G allele of rs10974944 has been shown to be associated with this variant, specifically its acquisition, correlations with familial cases, and laboratory alterations.
View Article and Find Full Text PDFClonal Megakaryocyte Dysplasia with Isolated Thrombocytosis Is a Distinct Myeloproliferative Neoplasm Phenotype.
Acta Haematol
February 2023
Introduction: About 15% of people with a myeloproliferative neoplasm (MPN) are identified as MPN, unclassifiable using the 2016 WHO classification.
Methods: We tested whether persons with platelet concentration ≥450 × 10E+9/L, bone marrow megakaryocyte morphology typical of prefibrotic/early myelofibrosis (pre-MF), and no minor criteria of pre-MF should be classified as a distinct MPN subtype, clonal megakaryocyte dysplasia with isolated thrombocytosis (CMD-IT).
Results: 139 subjects meet these criteria who we compared with primary myelofibrosis (PMF) including 402 with pre-MF and 521 with overt myelofibrosis.
The Contribution of 46/1 Haplotype in the Predisposition to Myeloproliferative Neoplasms.
Int J Mol Sci
October 2022
Programa de Pós-Graduação em Ciências Aplicadas à Hematologia, Universidade do Estado do Amazonas (UEA), Manaus 69850-000, AM, Brazil.
Haplotype 46/1 (GGCC) consists of a set of genetic variations distributed along chromosome 9p.24.1, which extend from the Janus Kinase 2 gene to Insulin like .
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