Principal components analysis corrects for stratification in genome-wide association studies
- A. Price, N. Patterson, R. Plenge, M. Weinblatt, N. Shadick, D. Reich
- BiologyNature Genetics
- 23 July 2006
This work describes a method that enables explicit detection and correction of population stratification on a genome-wide scale and uses principal components analysis to explicitly model ancestry differences between cases and controls.
Genetics of rheumatoid arthritis contributes to biology and drug discovery
A genome-wide association study meta-analysis in a total of >100,000 subjects of European and Asian ancestries provides empirical evidence that the genetics of RA can provide important information for drug discovery, and sheds light on fundamental genes, pathways and cell types that contribute to RA pathogenesis.
Genome-wide association analyses identify 18 new loci associated with serum urate concentrations
- A. Köttgen, E. Albrecht, C. Gieger
- BiologyNature Genetics
- 1 February 2013
New candidate genes for serum urate concentration highlight the importance of metabolic control of urate production and excretion, which may have implications for the treatment and prevention of gout.
STAT4 and the risk of rheumatoid arthritis and systemic lupus erythematosus.
- E. Remmers, R. Plenge, P. Gregersen
- Medicine, BiologyNew England Journal of Medicine
- 6 September 2007
A haplotype of STAT4 is associated with increased risk for both rheumatoid arthritis and systemic lupus erythematosus, suggesting a shared pathway for these illnesses.
Genomic atlas of the human plasma proteome
- Benjamin B. Sun, J. Maranville, A. Butterworth
- BiologyNature
- 1 June 2018
The genetic architecture of the human plasma proteome in healthy blood donors from the INTERVAL study is characterized, and it is shown that protein quantitative trait loci overlap with gene expression quantitative traits, as well as with disease-associated loci, and evidence that protein biomarkers have causal roles in disease is found.
Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci
- E. Stahl, S. Raychaudhuri, R. Plenge
- Medicine, BiologyNature Genetics
- 1 June 2010
Seven new rheumatoid arthritis risk alleles were identified at genome-wide significance (P < 5 × 10−8) in an analysis of all 41,282 samples, and an additional 11 SNPs replicated at P < 0.05, suggesting that most represent genuine rhearatoid arthritisrisk alleles.
Five amino acids in three HLA proteins explain most of the association between MHC and seropositive rheumatoid arthritis
- S. Raychaudhuri, C. Sandor, P. D. de Bakker
- BiologyNature Genetics
- 15 December 2011
Imputation of functional variation from large reference panels can help fine map association signals in the MHC, and three amino acid positions in HLA-DRβ1, which are all located in peptide-binding grooves, almost completely explain the M HC association to rheumatoid arthritis risk.
Replication of putative candidate-gene associations with rheumatoid arthritis in >4,000 samples from North America and Sweden: association of susceptibility with PTPN22, CTLA4, and PADI4.
- R. Plenge, L. Padyukov, J. Rioux
- Biology, MedicineAmerican Journal of Human Genetics
- 1 December 2005
Support is provided for PTPN22, CTLA4, and PADI4 as RA susceptibility genes and novel associations with clinically relevant subsets of RA are demonstrated.
Genetic variants near TNFAIP3 on 6q23 are associated with systemic lupus erythematosus
- R. Graham, C. Cotsapas, P. Gaffney
- Biology, MedicineNature Genetics
- 1 September 2008
A genome-wide association scan and replication study and evidence of two independent signals near TNFAIP3 associated with SLE, including one previously associated with rheumatoid arthritis are found.
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