Genetics of rheumatoid arthritis contributes to biology and drug discovery

…, A Takahashi, H Xu, TW Behrens, KA Siminovitch… - Nature, 2014 - nature.com
A major challenge in human genetics is to devise a systematic strategy to integrate disease-associated
variants with diverse genomic and biological data sets to provide insight into …

Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci

…, AB Begovich, J Worthington, KA Siminovitch… - Nature …, 2010 - nature.com
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 …

Five amino acids in three HLA proteins explain most of the association between MHC and seropositive rheumatoid arthritis

…, L Klareskog, J Worthington, KA Siminovitch… - Nature …, 2012 - nature.com
The genetic association of the major histocompatibility complex (MHC) to rheumatoid arthritis
risk has commonly been attributed to alleles in HLA-DRB1. However, debate persists …

Functional variants of OCTN cation transporter genes are associated with Crohn disease

…, AM Griffiths, PH St George-Hyslop, KA Siminovitch - Nature …, 2004 - nature.com
Crohn disease is a chronic, inflammatory disease of the gastrointestinal tract. A locus of ∼250
kb at 5q31 (IBD5) 1 , 2 was previously associated with susceptibility to Crohn disease, as …

Genetic variation in the 5q31 cytokine gene cluster confers susceptibility to Crohn disease

…, A Bitton, GR Greenberg, ES Lander, KA Siminovitch… - Nature …, 2001 - nature.com
Linkage disequilibrium (LD) mapping provides a powerful method for fine-structure localization
of rare disease genes, but has not yet been widely applied to common disease 1. We …

[HTML][HTML] Primary Biliary Cirrhosis Associated with HLA, IL12A, and IL12RB2 Variants

…, KN Lazaridis, CI Amos, KA Siminovitch - … England Journal of …, 2009 - Mass Medical Soc
Background Primary biliary cirrhosis is a chronic granulomatous cholangitis, characteristically
associated with antimitochondrial antibodies. Twin and family aggregation data suggest …

Motheaten and viable motheaten mice have mutations in the haematopoietic cell phosphatase gene

H Wo Tsui, KA Siminovitch, L de Souza, FWL Tsui - Nature genetics, 1993 - nature.com
Mice with the recessive motheaten (me) or the allelic viable motheaten (me v ) mutations
express a severe autoimmune and immunodeficiency syndrome. We have shown that the basic …

[HTML][HTML] Pervasive sharing of genetic effects in autoimmune disease

…, P Gregersen, L Klareskog, KA Siminovitch… - PLoS …, 2011 - journals.plos.org
Genome-wide association (GWA) studies have identified numerous, replicable, genetic
associations between common single nucleotide polymorphisms (SNPs) and risk of common …

Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma

…, U Seedorf, S Sen-Chowdhry, KA Siminovitch… - Nature …, 2011 - nature.com
Concentrations of liver enzymes in plasma are widely used as indicators of liver disease.
We carried out a genome-wide association study in 61,089 individuals, identifying 42 loci …

[PDF][PDF] Genomewide search in Canadian families with inflammatory bowel disease reveals two novel susceptibility loci

…, ES Lander, TJ Hudson, KA Siminovitch - The American Journal of …, 2000 - cell.com
The chronic inflammatory bowel diseases (IBDs)—Crohn disease (CD) and ulcerative colitis
(UC)—are idiopathic, inflammatory disorders of the gastrointestinal tract. These conditions …