To identify susceptibility loci for meningioma, we conducted a genome-wide association study of 859 affected individuals (cases) and 704 controls with validation in two independent sample sets totaling 774 cases and 1,764 controls. We identified a new susceptibility locus for meningioma at 10p12.31 (MLLT10, rs11012732, odds ratio = 1.46, P(combined) = 1.88 × 10(-14)). This finding advances our understanding of the genetic basis of meningioma development.
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http://dx.doi.org/10.1038/ng.879 | DOI Listing |
Gene fusions are common primary drivers of pediatric leukemias and are the result of underlying structural variant (SVs). Current clinical workflows to detect such alterations rely on a multimodal approach, which often increases analysis time and overall cost of testing. In this study, we used long-read sequencing (lrSeq) as a proof-of-concept to determine whether clinically relevant (cr) SVs could be detected within a small (n = 17) pediatric leukemia cohort.
View Article and Find Full Text PDFInt J Lab Hematol
January 2025
Hematology Service and Central Laboratory of Hematology, University Hospital (CHUV) and University of Lausanne (UNIL), Lausanne, Switzerland.
Pain Rep
February 2025
Institute of Cytology and Genetics, Siberian Branch of Russian Academy of Sciences, Novosibirsk, Russia.
Introduction: Back pain (BP) is a complex heritable trait with an estimated heritability of 40% to 60%. Less than half of this can be explained by known genetic variants identified in genome-wide association studies.
Objectives: We applied a powerful multi-trait and gene-based approach to association analysis of BP to identify novel genes associated with BP.
Cytometry B Clin Cytom
November 2024
Department of Hematology, The Second Affiliated Hospital of Fujian Medical University, Quanzhou, China.
Hematology
December 2024
Bone Marrow Transplantation Center of The First Affiliated Hospital & Liangzhu Laboratory, Zhejiang University School of Medicine, Hangzhou, People's Republic of China.
Introduction: -, formerly , is a rarely reported fusion gene in hematological malignancies, especially in Asian people.
Case Presentations: Six patients with fusion gene were identified at the First Affiliated Hospital, Zhejiang University School of Medicine, China between October 2019 and October 2023, with a median age of 25 years. Clinical diagnoses included acute myeloid leukemia (AML) in 2 patients, acute lymphoblastic leukemia (ALL) in 3, and mixed phenotype acute leukemia (MPAL) in 1.
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