ArticlePloS one2013
Analysis of gender differences in genetic risk: association of TNFAIP3 polymorphism with male childhood-onset systemic lupus erythematosus in the Japanese population.
Article in PloS one, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers, 3 of them syntheses that pooled it.
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Who cites it
13 citing papers in PubMed, 3 syntheses or guidelines pooled it, 26 citations in OpenAlex.
- B-cell lymphocyte kinase polymorphisms rs13277113, rs2736340, and rs4840568 and risk of autoimmune diseases: A meta-analysis.Medicine · 2017Pooled it
- Association between BLK polymorphisms and susceptibility to SLE : A meta-analysis.Zeitschrift fur Rheumatologie · 2017Pooled it
- Association between rs2431697 T allele on 5q33.3 and systemic lupus erythematosus: case-control study and meta-analysis.Clinical rheumatology · 2015Pooled it
- The Role of Genetic Risk Factors in Pathogenesis of Childhood-Onset Systemic Lupus Erythematosus.Current issues in molecular biology · 2023Review
- Polymorphism in STAT4 Increase the Risk of Systemic Lupus Erythematosus: An Updated Meta-Analysis.International journal of rheumatology · 2022Article
- Inflammasomes and Childhood Autoimmune Diseases: A Review of Current Knowledge.Clinical reviews in allergy & immunology · 2021Review
- Impact ofViruses · 2021Article
- Systemic Lupus Erythematosus in Children and Young People.Current rheumatology reports · 2021Review
- Genetic Polymorphisms in Genes Involved in the Type I Interferon System (IFIH1/MDA-5, TNFAIP3/A20, and STAT4): Association with SLE Risk in Egyptian Children and Adolescents.Journal of inflammation research · 2021Article
- Nonendocrine mechanisms of sex bias in rheumatic diseases.Nature reviews. Rheumatology · 2019Review
- TNFAIP3 genetic polymorphisms reduce ankylosing spondylitis risk in Eastern Chinese Han population.Scientific reports · 2019Article
- An Autoimmune Disease-Associated Risk Variant in theJournal of clinical microbiology · 2018Article
- Isolated thrombocytopenia; A report of a rare presentation of childhood systemic lupus erythematosus (SLE).Caspian journal of internal medicine · 2015Article
Corrections and comments
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Authors and funding
12 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundSystemic lupus erythematosus (SLE) is a systemic multisystem autoimmune disorder influenced by genetic background and environmental factors. Our aim here was to replicate findings of associations between 7 of the implicated single nucleotide polymorphisms (SNPs) in IRF5, BLK, STAT4, TNFAIP3, SPP1, TNIP1 and ETS1 genes with susceptibility to childhood-onset SLE in the Japanese population. In particular, we focused on gender differences in allelic frequencies. METHODOLOGY/PRINCIPAL
findingsThe 7 SNPs were genotyped using TaqMan assays in 75 patients with childhood-onset SLE and in 190 healthy controls. The relationship between the cumulative number of risk alleles and SLE manifestations was explored in childhood-onset SLE. Logistic regression was used to test the effect of each polymorphism on susceptibility to SLE, and Wilcoxon rank sum testing was used for comparison of total risk alleles. Data on rs7574865 in the STAT4 gene and rs9138 in SPP1 were replicated for associations with SLE when comparing cases and controls (corrected P values ranging from 0.0043 to 0.027). The rs2230926 allele of TNFAIP3 was associated with susceptibility to SLE in males, but after Bonferroni correction there were no significant associations with any of the other four SNPs in IRF5, BLK, TNIP1 and ETS1 genes. The cumulative number of risk alleles was significantly increased in childhood-onset SLE relative to healthy controls (P = 0.0000041). Male SLE patients had a slightly but significantly higher frequency of the TNFAIP3 (rs2230926G) risk allele than female patients (odds ratio [OR] = 4.05, 95% confidence interval [95%CI] = 1.46-11.2 P<0.05).
conclusionsAssociations of polymorphisms in STAT4 and SPP1 with childhood-onset SLE were confirmed in a Japanese population. Although these are preliminary results for a limited number of cases, TNFAIP3 rs2230926G may be an important predictor of disease onset in males. We also replicated findings that the cumulative number of risk alleles was significantly increased in childhood-onset SLE.
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