A5070735232- Genetic Associations and Epidemiology
- Diabetes and associated disorders
- Pancreatic function and diabetes
- Epigenetics and DNA Methylation
- Diabetes Management and Research
- Nutrition, Genetics, and Disease
- Genetic Mapping and Diversity in Plants and Animals
- Genomics and Rare Diseases
- Bioinformatics and Genomic Networks
- Chronic Obstructive Pulmonary Disease (COPD) Research
- RNA modifications and cancer
- Genetic and phenotypic traits in livestock
- T-cell and B-cell Immunology
- Birth, Development, and Health
- Diet, Metabolism, and Disease
- Liver Disease Diagnosis and Treatment
- Diabetes, Cardiovascular Risks, and Lipoproteins
- Diabetes Treatment and Management
- Cancer-related molecular mechanisms research
- Chronic Kidney Disease and Diabetes
- Immune Cell Function and Interaction
- Asthma and respiratory diseases
- Renal Diseases and Glomerulopathies
- Genomic variations and chromosomal abnormalities
- Lipoproteins and Cardiovascular Health
University of Virginia
2016-2025
Office of Public Health Genomics
2015-2024
Griffith University
2024
University of Alabama at Birmingham
2003-2024
University of Cambridge
2024
Charlottesville Medical Research
2013-2024
Wake Forest University
2006-2023
Loyola University Chicago
2014-2023
National Institutes of Health
1990-2023
Boston University
2000-2023
Haplotype-based methods offer a powerful approach to disease gene mapping, based on the association between causal mutations and ancestral haplotypes which they arose. As part of The SNP Consortium Allele Frequency Projects, we characterized haplotype patterns across 51 autosomal regions (spanning 13 megabases human genome) in samples from Africa, Europe, Asia. We show that genome can be parsed objectively into blocks: sizable over there is little evidence for historical recombination within...
Abstract Motivation: Genome-wide association studies (GWASs) have been widely used to map loci contributing variation in complex traits and risk of diseases humans. Accurate specification familial relationships is crucial for family-based GWAS, as well population-based GWAS with unknown (or unrecognized) family structure. The structure a should be routinely investigated using the SNP data prior analysis population or phenotype. Existing algorithms relationship inference major weakness...
The obesity epidemic is responsible for a substantial economic burden in developed countries and major risk factor type 2 diabetes cardiovascular disease. disease the result not only of several environmental factors, but also genetic predisposition. To take advantage recent advances gene-mapping technology, we executed genome-wide association scan to identify variants associated with obesity-related quantitative traits genetically isolated population Sardinia. Initial analysis suggested that...
Kwashiorkor, an enigmatic form of severe acute malnutrition, is the consequence inadequate nutrient intake plus additional environmental insults. To investigate role gut microbiome, we studied 317 Malawian twin pairs during first 3 years life. During this time, half remained well nourished, whereas 43% became discordant, and 7% manifested concordance for malnutrition. Both children in discordant kwashiorkor were treated with a peanut-based, ready-to-use therapeutic food (RUTF). Time-series...
Diabetic nephropathy develops in less than half of all patients with diabetes. To study heredity as a possible risk factor for diabetic kidney disease, we examined the concordance rates two sets families which both probands and siblings had diabetes mellitus. In one set, (n = 11) no evidence nephropathy, normal creatinine clearance urinary albumin excretion rate below 45 mg per day. other 26) undergone transplantation because nephropathy. Evidence was found 2 12 without (17 percent). Of 29...
Compared to the general pediatric population, children with autism have higher rates of co-occurring medical and psychiatric illnesses, yet very little is known about health status adults autism. The objective this study was describe frequency conditions among a large, diverse, insured population in United States. Participants were adult members Kaiser Permanente Northern California enrolled from 2008 2012. Autism spectrum disorder cases ( N = 1507) diagnoses (International Classification...
SummaryWe analyzed the European genetic contribution to 10 populations of African descent in United States (Maywood, Illinois; Detroit; New York; Philadelphia; Pittsburgh; Baltimore; Charleston, South Carolina; Orleans; and Houston) Jamaica, using nine autosomal DNA markers. These markers either are population-specific or show frequency differences >45% between parental thus especially informative for admixture. ancestry ranged from 6.8% (Jamaica) 22.5% (New Orleans). The unique utility...
We observed a syndrome of intermittent fevers, early-onset lacunar strokes and other neurovascular manifestations, livedoid rash, hepatosplenomegaly, systemic vasculopathy in three unrelated patients. suspected genetic cause because the disorder presented early childhood.We performed whole-exome sequencing initial patients their unaffected parents candidate-gene with similar phenotype, as well two young siblings polyarteritis nodosa one patient small-vessel vasculitis. Enzyme assays,...
Obesity is a heritable trait and risk factor for many common diseases such as type 2 diabetes, heart disease, hypertension. We used dense whole-genome scan of DNA samples from the Framingham Heart Study participants to identify genetic variant near INSIG2 gene associated with obesity. have replicated finding in four separate composed individuals Western European ancestry, African Americans, children. The obesity-predisposing genotype present 10% individuals. Our study suggests that...
These two articles present contrasting views of the usefulness concept race in biomedical research and clinical practice.
DNA sequence variation within human leukocyte antigen (HLA) genes mediate susceptibility to a wide range of diseases. The complex genetic structure the major histocompatibility (MHC) makes it difficult, however, collect genotyping data in large cohorts. Long-range linkage disequilibrium between HLA loci and SNP markers across region offers an alternative approach through imputation interrogate existing GWAS sets. Here we describe computational strategy, SNP2HLA, impute classical alleles...
Gene targeting was used to produce mice deficient in intercellular adhesion molecule 1 (ICAM-1) or CD54, an immunoglobulin-like cell that binds beta 2 integrins. Homozygous animals develop normally, are fertile, and have a moderate granulocytosis. The nature of the mutation, RNA analysis, immunostaining consistent with complete loss surface expression ICAM-1. Deficient exhibit prominent abnormalities inflammatory responses including impaired neutrophil emigration response chemical...