Association of Trypanolytic ApoL1 Variants with Kidney Disease in African Americans
- G. Genovese, D. Friedman, M. Pollak
- BiologyScience
- 13 August 2010
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.
Genome-wide association scan in women with systemic lupus erythematosus identifies susceptibility variants in ITGAM, PXK, KIAA1542 and other loci
- J. Harley, M. Alarcón-Riquelme, C. Langefeld
- BiologyNature Genetics
- 1 February 2008
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.
Genetic Variants in Novel Pathways Influence Blood Pressure and Cardiovascular Disease Risk
- G. Ehret, P. Munroe, T. Johnson
- Medicine, BiologyNature
- 11 September 2011
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.
Genetic association of the R620W polymorphism of protein tyrosine phosphatase PTPN22 with human SLE.
- C. Kyogoku, C. Langefeld, T. Behrens
- Biology, MedicineAmerican Journal of Human Genetics
- 1 September 2004
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.
Genome-wide genotyping in Parkinson's disease and neurologically normal controls: first stage analysis and public release of data
- H. Fung, Sonja W. Scholz, A. Singleton
- Biology, MedicineLancet Neurology
- 1 November 2006
Multiancestry genome-wide association study of 520,000 subjects identifies 32 loci associated with stroke and stroke subtypes
- R. Malik, G. Chauhan, M. Dichgans
- BiologyNature Genetics
- 30 January 2018
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.
Dense genotyping of immune-related disease regions identifies 14 new susceptibility loci for juvenile idiopathic arthritis
- A. Hinks, J. Cobb, S. Thompson
- Biology, MedicineNature Genetics
- 21 April 2013
This is the largest collection of JIA cases investigated so far and provides new insight into the genetic basis of this childhood autoimmune disease, highlighting crucial pathways, including the interleukin (IL)-2 pathway, in JIA disease pathogenesis.
Association of a functional variant downstream of TNFAIP3 with systemic lupus erythematosus
- I. Adrianto, Feng Wen, P. Gaffney
- BiologyNature Genetics
- 1 March 2011
These results establish this TT>A variant as the most likely functional polymorphism responsible for the association between TNFAIP3 and SLE.
Evaluation of the TREX1 gene in a large multi-ancestral lupus cohort
- B. Namjou, P. Kothari, J. Atkinson
- Biology, MedicineGenes and Immunity
- 1 June 2011
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.
Adiponectin as a novel determinant of bone mineral density and visceral fat.
- L. Lenchik, T. Register, D. Bowden
- Medicine, BiologyBone
- 1 October 2003
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