ArticleThe Journal of rheumatology2011
Evaluation of 19 autoimmune disease-associated loci with rheumatoid arthritis in a Colombian population: evidence for replication and gene-gene interaction.
Article in The Journal of rheumatology, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers, 2 of them syntheses that pooled it.
What it found
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Who cites it
19 citing papers in PubMed, 2 syntheses or guidelines pooled it, 34 citations in OpenAlex.
- B-cell lymphocyte kinase polymorphisms rs13277113, rs2736340, and rs4840568 and risk of autoimmune diseases: A meta-analysis.Medicine · 2017Pooled it
- Epistatic interaction between BANK1 and BLK in rheumatoid arthritis: results from a large trans-ethnic meta-analysis.PloS one · 2013Pooled it
- Genetic architecture of primary sclerosing cholangitis: shared pathways with inflammatory bowel disease and gut-liver axis mediation.International journal of surgery (London, England) · 2026Article
- The survival rate of laryngeal squamous cell carcinoma: impact of IL1RAP rs4624606, IL1RL1 rs1041973, IL-6 rs1800795, BLK rs13277113, and TIMP3 rs9621532 single nucleotide polymorphisms.Discover oncology · 2023Article
- Causal relationship between rheumatoid arthritis and hypothyroidism or hyperthyroidism: a bidirectional two-sample univariable and multivariable Mendelian randomization study.Frontiers in endocrinology · 2023Article
- Association ofFrontiers in genetics · 2020Article
- CD226 Attenuates Treg Proliferation via Akt and Erk Signaling in an EAE Model.Frontiers in immunology · 2020Article
- Article
- Genetics of Sjögren's syndrome.Clinical immunology (Orlando, Fla.) · 2017Review
- Gene-gene interaction between CD40 and CD226 gene on systemic lupus erythematosus in the Chinese Han population.Rheumatology international · 2016Article
- The SLE variant Ala71Thr of BLK severely decreases protein abundance and binding to BANK1 through impairment of the SH3 domain function.Genes and immunity · 2016Article
- High-density genotyping of immune-related loci identifies new SLE risk variants in individuals with Asian ancestry.Nature genetics · 2016Article
- Targeting CD226/DNAX accessory molecule-1 (DNAM-1) in collagen-induced arthritis mouse models.Journal of inflammation (London, England) · 2015Article
- RADB: a database of rheumatoid arthritis-related polymorphisms.Database : the journal of biological databases and curation · 2014Article
- Recognition of self and altered self by T cells in autoimmunity and allergy.Protein & cell · 2013Review
- The autoimmunity-associated BLK haplotype exhibits cis-regulatory effects on mRNA and protein expression that are prominently observed in B cells early in development.Human molecular genetics · 2012Article
- Article
- Shared HLA Class II in Six Autoimmune Diseases in Latin America: A Meta-Analysis.Autoimmune diseases · 2012Article
- Introducing polyautoimmunity: secondary autoimmune diseases no longer exist.Autoimmune diseases · 2012Article
Corrections and comments
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Authors and funding
7 authors at 2 institutions in 2 countries.
Funding
Abstract
objectiveRecent studies have identified several common genes associated with multiple autoimmune diseases that support the hypothesis of the presence of shared or general autoimmunity genes. However, most of this work has been performed in populations of white origin. The main objectives of this study are to replicate the genotype-phenotype correlation between 19 such variants and rheumatoid arthritis (RA), and to evaluate gene-gene interactions between these genes in individuals from an ethnically homogenous nonwhite Colombian population.
methodsNineteen single-nucleotide polymorphisms (SNP) from 16 genes/loci were genotyped in 353 RA cases and 368 controls. For each SNP, allelic and genotype-based association tests were applied to evaluate genotype-phenotype correlation. Permutation-based tests were used to validate the statistical significance. Gene-gene interactions were assessed by logistic regression.
resultsWe replicated the genetic association with rs13277113 (p = 0.0009, OR 1.46) and rs2736340 (p = 0.0001, OR 1.63) from C8orf13-BLK (8p23.1, associated with RA and systemic lupus erythematosus), and rs763361 (p = 0.03) from CD226 (18q22.3, associated with multiple sclerosis and type 1 diabetes) in the Colombian population. The population-attributable risks were estimated as 27%, 34%, and 16% for rs13277113, rs2736340, and rs763361, respectively. We also detected evidence for gene-gene interaction between SNP in MMEL1 (rs3890745) and C80rf13-BLK (rs13277113; p = 0.0002).
conclusionOur results demonstrate that the IL2/IL21 region, C8orf13-BLK, and CD226 influence RA in Colombians, and RA shares some of the pathogenic mechanisms associated with other autoimmune diseases.
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