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Association of Trypanolytic ApoL1 Variants with Kidney Disease in African Americans
TLDR
In African Americans, focal segmental glomerulosclerosis and hypertension-attributed end-stage kidney disease (H-ESKD) are associated with two independent sequence variants in the APOL1 gene on chromosome 22, which speculate that evolution of a critical survival factor in Africa may have contributed to the high rates of renal disease in African Americans. Expand
Genome-wide association scan in women with systemic lupus erythematosus identifies susceptibility variants in ITGAM, PXK, KIAA1542 and other loci
TLDR
The results show that numerous genes, some with known immune-related functions, predispose to SLE, and evidence of association with replication is found at FCGR2A, PTPN22 and STAT4, regions previously associated with SLE and other autoimmune diseases. Expand
Genetic association of the R620W polymorphism of protein tyrosine phosphatase PTPN22 with human SLE.
TLDR
Genotyped 525 independent North American white individuals with systemic lupus erythematosus and compared the results with data generated from 1,961 white control individuals provide compelling evidence that PTPN22 plays a fundamental role in regulating the immune system and the development of autoimmunity. Expand
Genome-wide genotyping in Parkinson's disease and neurologically normal controls: first stage analysis and public release of data
TLDR
This work generated publicly available genotype data for Parkinson's disease patients and controls so that these data can be mined and augmented by other researchers to identify common genetic variability that results in minor and moderate risk for disease. Expand
Multiancestry genome-wide association study of 520,000 subjects identifies 32 loci associated with stroke and stroke subtypes
TLDR
A multiancestry genome-wide-association meta-analysis and discovered 22 new stroke risk loci, indicating mechanisms not previously implicated in stroke pathophysiology, with prioritization of risk variants and genes accomplished through bioinformatics analyses using extensive functional datasets. Expand
Genetic Variants in Novel Pathways Influence Blood Pressure and Cardiovascular Disease Risk
TLDR
A genetic risk score based on 29 genome-wide significant variants was associated with hypertension, left ventricular wall thickness, stroke and coronary artery disease, but not kidney disease or kidney function, and these findings suggest potential novel therapeutic pathways for cardiovascular disease prevention. Expand
Reduction of Lower Extremity Clinical Abnormalities in Patients with Non-Insulin-Dependent Diabetes Mellitus
TLDR
The intervention in this study was designed to reduce the prevalence of risk factors for lower extremity amputations in patients with noninsulin-dependent diabetes and involved the three major elements of a prevention program: the patient, health care providers, and the health care system. Expand
Genetic and environmental determinants of 25-hydroxyvitamin D and 1,25-dihydroxyvitamin D levels in Hispanic and African Americans.
TLDR
SNPs in the vitamin D binding protein gene (DBP) are associated with levels of 25(OH)D and 1,25( OH)2D in HA and AA participants in the Insulin Resistance Atherosclerosis Family Study. Expand
Evaluation of the TREX1 gene in a large multi-ancestral lupus cohort
TLDR
Analysis of common TREX1 SNPs revealed a relatively common risk haplotype in European SLE patients with neurological manifestations, especially seizures, with a frequency of 58% in lupus cases compared with 45% in normal controls, and a strong association with anti-nRNP was observed. Expand
Association of a functional variant downstream of TNFAIP3 with systemic lupus erythematosus
TLDR
These results establish this TT>A variant as the most likely functional polymorphism responsible for the association between TNFAIP3 and SLE. Expand
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