We examine the current effort to develop a haplotype map of the human genome and suggest an alternative approach which represents linkage disequilibrium patterns in the form of a metric LD map. LD maps have some of the useful properties of genetic linkage maps but have a much higher resolution which is optimal for SNP-based association mapping of common diseases. The studies that have been undertaken to date suggest that LD and recombination maps show some close similarities because of abundant, narrow, recombination hot spots. These hot spots are co-localised in all populations but, unlike linkage maps, LD maps differ in scale for different populations because of differences in population history. The prospects for developing optimized panels of SNPs and the use of linkage disequilibrium maps in disease gene localisation are assessed in the light of recent evidence.
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http://dx.doi.org/10.1159/000081451 | DOI Listing |
Am J Physiol Regul Integr Comp Physiol
January 2025
Department of Thoracic Surgery, Guangxi Academy of Medical Sciences and the People's Hospital of Guangxi Zhuang Autonomous Region.
We aimed to explore the role of Amino acid metabolism (AAM) and identify biomarkers for prognosis management and treatment of lung adenocarcinoma. Differentially expressed genes (DEGs) associated with AAM in lung adenocarcinoma were selected from public databases. Samples were clustered into varying subtypes using ConsensusClusterPlus based on gene levels.
View Article and Find Full Text PDFJ Invasive Cardiol
December 2024
Department of Interventional Cardiology and Angiology, National Institute of Cardiology, Warsaw, Poland.
Objectives: Antegrade wiring (AW) is the most common coronary chronic total occlusion (CTO) crossing strategy and usually relies upon stepwise guidewire escalation starting from the low tip-load polymer-jacketed wire (standard guidewire escalation). The authors aimed to investigate whether the upfront use of intermediate tip-load polymer-jacketed guidewire translates into improved procedural outcomes of CTO percutaneous coronary intervention (PCI).
Methods: The Gladius First trial was a single-center, investigator-initiated, randomized, prospective trial.
JAMA Netw Open
January 2025
Division of Cancer Genetics and Prevention, Dana-Farber Cancer Institute, Boston, Massachusetts.
Importance: CHEK2 pathogenic and likely pathogenic variants (PVs) are common, and low-risk (LR) variants, p.I157T, p.S428F, and p.
View Article and Find Full Text PDFJAMA Netw Open
January 2025
Office of Global and Population Health, Boston University Henry M. Goldman School of Dental Medicine, Boston, Massachusetts.
Importance: Caries is the most common chronic childhood disease, with substantial health disparities.
Objective: To test whether parent-targeted oral health text (OHT) messages outperform child wellness text (CWT) messages on pediatric caries increment and oral health behaviors among underserved children attending pediatric well-child visits.
Design, Setting, And Participants: The parallel randomized clinical trial, Interactive Parent-Targeted Text Messaging in Pediatric Clinics to Reduce Caries Among Urban Children (iSmile), included participants who were recruited during pediatric medical clinic visits at 4 sites in Boston, Massachusetts, that serve low-income and racially and ethnically diverse (herein, underserved) populations.
Adv Ther
January 2025
CSL Vifor, Glattbrugg, Switzerland.
Introduction: Chronic kidney disease-associated pruritus (CKD-aP) is a common, yet underdiagnosed condition among patients on hemodialysis. Considering the lack of established treatment pathways, we sought to evaluate the use of antidepressant, systemic antihistamines, or gabapentinoid medications among patients with CKD-aP in the year following pruritus assessment.
Methods: We included 6209 patients on hemodialysis in the analysis.
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