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A missense single-nucleotide polymorphism in a gene encoding a protein tyrosine phosphatase (PTPN22) is associated with rheumatoid arthritis.
Rheumatoid arthritis (RA) is the most common systemic autoimmune disease, affecting approximately 1% of the adult population worldwide, with an estimated heritability of 60%. To identify genesExpand
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Germline Mutations in the Extracellular Domains of the 55 kDa TNF Receptor, TNFR1, Define a Family of Dominantly Inherited Autoinflammatory Syndromes
Autosomal dominant periodic fever syndromes are characterized by unexplained episodes of fever and severe localized inflammation. In seven affected families, we found six different missense mutationsExpand
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Functional variants of OCTN cation transporter genes are associated with Crohn disease
Crohn disease is a chronic, inflammatory disease of the gastrointestinal tract. A locus of ∼250 kb at 5q31 (IBD5) was previously associated with susceptibility to Crohn disease, as indicated byExpand
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STAT4 and the risk of rheumatoid arthritis and systemic lupus erythematosus.
BACKGROUND Rheumatoid arthritis is a chronic inflammatory disease with a substantial genetic component. Susceptibility to disease has been linked with a region on chromosome 2q. METHODS We testedExpand
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Robust variance-components approach for assessing genetic linkage in pedigrees.
  • C. Amos
  • Biology, Medicine
  • American journal of human genetics
  • 1 March 1994
To assess evidence for genetic linkage from pedigrees, I developed a limited variance-components approach. In this method, variability among trait observations from individuals within pedigrees isExpand
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Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci
To identify new genetic risk factors for rheumatoid arthritis, we conducted a genome-wide association study meta-analysis of 5,539 autoantibody-positive individuals with rheumatoid arthritis (cases)Expand
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Genome-wide association study identifies variants in the MHC class I, IL10, and IL23R/IL12RB2 regions associated with Behçet's disease
Behçet's disease is a genetically complex disease of unknown etiology characterized by recurrent inflammatory attacks affecting the orogenital mucosa, eyes and skin. We performed a genome-wideExpand
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Genome-wide association scan of tag SNPs identifies a susceptibility locus for lung cancer at 15q25.1
To identify risk variants for lung cancer, we conducted a multistage genome-wide association study. In the discovery phase, we analyzed 315,450 tagging SNPs in 1,154 current and former (ever) smokingExpand
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Common 5p15.33 and 6p21.33 variants influence lung cancer risk
We conducted a genome-wide association (GWA) study of lung cancer comparing 511,919 SNP genotypes in 1,952 cases and 1,438 controls. The most significant association was attained at 15q25.1Expand
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Modulation of nucleotide excision repair capacity by XPD polymorphisms in lung cancer patients.
Sequence variations have been identified in a number of DNA repair genes, including XPD, but the effect of these polymorphisms on DNA repair capacity (DRC) is uncertain. We therefore examined XPDExpand
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