ArticleHuman genetics2012
Two-stage association study in Chinese Han identifies two independent associations in CCR1/CCR3 locus as candidate for Behçet's disease susceptibility.
Article in Human genetics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
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Who cites it
23 citing papers in PubMed, 50 citations in OpenAlex.
- Decoding Behcet's Uveitis: an In-depth review of pathogenesis and therapeutic advances.Journal of neuroinflammation · 2024Review
- JASPER: fast, powerful, multitrait association testing in structured samples gives insight on pleiotropy in gene expression.bioRxiv : the preprint server for biology · 2023Article
- Genetics in Behcet's Disease: An Update Review.Frontiers in ophthalmology · 2022Review
- The Immunogenetics of Behcet's Disease.Advances in experimental medicine and biology · 2022Article
- Pathogenesis of Non-Infectious Uveitis Elucidated by Recent Genetic Findings.Frontiers in immunology · 2021Review
- The role of CCR1 and therapeutic effects of anti-CCL3 antibody in herpes simplex virus-induced Behçet's disease mouse model.Immunology · 2019Article
- Association ofThe British journal of ophthalmology · 2018Article
- GWAS-identified CCR1 and IL10 loci contribute to M1 macrophage-predominant inflammation in Behçet's disease.Arthritis research & therapy · 2018Article
- Analysis of the association between Fc receptor family gene polymorphisms and ocular Behçet's disease in Han Chinese.Scientific reports · 2018Article
- Immune Regulatory Genes Are Major Genetic Factors to Behcet Disease: Systematic Review.The open rheumatology journal · 2018Review
- Dual effects of testosterone in Behcet's disease: implications for a role in disease pathogenesis.Genes and immunity · 2016Article
- The immunogenetics of Behçet's disease: A comprehensive review.Journal of autoimmunity · 2015Review
- Associations of rs4810485 and rs1883832 polymorphisms of CD40 gene with susceptibility and clinical findings of Behçet's disease.Rheumatology international · 2015Article
- FCRL3 gene polymorphisms confer autoimmunity risk for allergic rhinitis in a Chinese Han population.PloS one · 2015Article
- Interleukin-10 gene polymorphisms are associated with Behcet's disease but not with Vogt-Koyanagi-Harada syndrome in the Chinese Han population.Molecular vision · 2015Article
- Autoimmune and autoinflammatory mechanisms in uveitis.Seminars in immunopathology · 2014Review
- Update on the therapy of Behçet disease.Therapeutic advances in chronic disease · 2014Review
- [Genetic risk factors for vasculitis].Der Internist · 2014Article
- A functional variant of PTPN22 confers risk for Vogt-Koyanagi-Harada syndrome but not for ankylosing spondylitis.PloS one · 2014Article
- A functional variant of pre-miRNA-196a2 confers risk for Behcet's disease but not for Vogt-Koyanagi-Harada syndrome or AAU in ankylosing spondylitis.Human genetics · 2013Article
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Authors and funding
6 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Previous GWAS studies from Turkey suggested a potential risk locus at CCR1/CCR3 for Behçet's disease. However, this locus did not reach the GWAS significance threshold and has not yet been examined in other ethnic populations. The current study aimed to explore whether this locus was associated with Behçet's disease in Chinese Han and the functional role of the identified variants. A two-stage association study was performed in 653 patients and 1,685 controls using the iPLEX system. Real-time PCR was performed to examine the expression level of CCR1 and CCR3 genes. Haplotype analysis was used to construct the haplotype block. Logistic regression analysis was applied to calculate the independence of multiple associations. Bonferroni correction was applied to account for multiple testing. First stage analysis showed that ten SNPs, located in 3'UTR, 5'UTR in CCR1 or 5'UTR in CCR3, were significantly associated with Behçet's disease (P(c) = 0.018 to 1.3 × 10(-3)). The associations of six SNPs within this locus are independent after control for the genetic effect of rs17282391 using logistic regression analysis. Haplotype analysis identified three associated haplotypes: H3 (GTGAC), H6 (CCATTA) and H9 (CGA) (P(c) = 0.04 to 7.79 × 10(-4)). Three SNPs rs13084057, rs13092160 and rs13075270 showed consistent association in replication and combining studies (replication P(c) = 5.31 × 10(-5) to 1.44 × 10(-5); combining P(c) = 2.76 × 10(-7) to 6.50 × 10(-8)). Interestingly, eQTLs database reveals that SNP rs13092160 is eQTLs SNP, suggesting that this SNP is likely to be functional SNP that directly affects gene expression. The expression of CCR1 and CCR3 was increased in individuals with the CT genotype of rs13092160 (P < 0.05). No significant difference was found for the mRNA level of CCR1 and CCR3 between Behçet's patients and controls. These findings strongly indicate CCR1/CCR3 as a novel locus underlying Behçet's disease.
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