Please use this identifier to cite or link to this item:
https://doi.org/10.1186/1471-2350-10-121
DC Field | Value | |
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dc.title | Confirmation of the genetic association of CTLA4 and PTPN22 with ANCA-associated vasculitis | |
dc.contributor.author | Carr, E.J | |
dc.contributor.author | Niederer, H.A | |
dc.contributor.author | Williams, J | |
dc.contributor.author | Harper, L | |
dc.contributor.author | Watts, R.A | |
dc.contributor.author | Lyons, P.A | |
dc.contributor.author | Smith, K.G.C | |
dc.date.accessioned | 2020-10-20T04:37:12Z | |
dc.date.available | 2020-10-20T04:37:12Z | |
dc.date.issued | 2009 | |
dc.identifier.citation | Carr, E.J, Niederer, H.A, Williams, J, Harper, L, Watts, R.A, Lyons, P.A, Smith, K.G.C (2009). Confirmation of the genetic association of CTLA4 and PTPN22 with ANCA-associated vasculitis. BMC Medical Genetics 10 : 121. ScholarBank@NUS Repository. https://doi.org/10.1186/1471-2350-10-121 | |
dc.identifier.issn | 14712350 | |
dc.identifier.uri | https://scholarbank.nus.edu.sg/handle/10635/177943 | |
dc.description.abstract | Background: The genetic contribution to the aetiology of anti-neutrophil cytoplasmic antibody (ANCA)-associated vasculitis (AAV) is not well defined. Across different autoimmune diseases some genes with immunomodulatory roles, such as PTPN22, are frequently associated with multiple diseases, whereas specific HLA associations, such as HLA-B27, tend to be disease restricted. We studied ten candidate loci on the basis of their immunoregulatory role and prior associations with type 1 diabetes (T1D). These included PTPN22, CTLA4 and CD226, which have previously been associated with AAV. Methods: We genotyped the following 11 SNPs, from 10 loci, in 641 AAV patients using TaqMan genotyping: rs2476601 in PTPN22, rs1990760 in IFIH1, rs3087243 in CTLA4, rs2069763 in IL2, rs10877012 in CYP27B1, rs2292239 in ERBB3, rs3184504 in SH2B3, rs12708716 in CLEC16A, rs1893217 and rs478582 in PTPN2 and rs763361 in CD226. Where possible, we performed a meta-analysis with previous analyses. Results: Both CTLA4 rs3087243 and PTPN22 rs2476601 showed association with AAV, P = 6.4 × 10-3and P = 1.4 × 10-4respectively. The minor allele (A) of CTLA4 rs3087243 is protective (odds ratio = 0.84), whereas the minor allele (A) of PTPN22 rs2476601 confers susceptibility (odds ratio = 1.40). These results confirmed previously described associations with AAV. After meta-analysis, the PTPN22 rs2476601 association was further strengthened (combined P = 4.2 × 10-7, odds ratio of 1.48 for the A allele). The other 9 SNPs, including rs763361 in CD226, showed no association with AAV. Conclusion: Our study of T1D associated SNPs in AAV has confirmed CTLA4 and PTPN22 as susceptibility loci in AAV. These genes encode two key regulators of the immune response and are associated with many autoimmune diseases, including T1D, autoimmune thyroid disease, celiac disease, rheumatoid arthritis, and now AAV. © 2009 Carr et al; licensee BioMed Central Ltd. | |
dc.rights | Attribution 4.0 International | |
dc.rights.uri | http://creativecommons.org/licenses/by/4.0/ | |
dc.source | Unpaywall 20201031 | |
dc.subject | cytotoxic T lymphocyte antigen 4 | |
dc.subject | neutrophil cytoplasmic antibody | |
dc.subject | non receptor protein tyrosine phosphatase 22 | |
dc.subject | cytotoxic T lymphocyte antigen 4 | |
dc.subject | cytotoxic T-lymphocyte antigen 4 | |
dc.subject | leukocyte antigen | |
dc.subject | non receptor protein tyrosine phosphatase 22 | |
dc.subject | PTPN22 protein, human | |
dc.subject | adult | |
dc.subject | aged | |
dc.subject | allele | |
dc.subject | ANCA associated vasculitis | |
dc.subject | article | |
dc.subject | controlled study | |
dc.subject | gene frequency | |
dc.subject | gene function | |
dc.subject | gene identification | |
dc.subject | gene locus | |
dc.subject | genetic association | |
dc.subject | genetic susceptibility | |
dc.subject | genotype | |
dc.subject | human | |
dc.subject | immune response | |
dc.subject | insulin dependent diabetes mellitus | |
dc.subject | major clinical study | |
dc.subject | single nucleotide polymorphism | |
dc.subject | ANCA associated vasculitis | |
dc.subject | cohort analysis | |
dc.subject | genetic predisposition | |
dc.subject | genetics | |
dc.subject | immunology | |
dc.subject | Alleles | |
dc.subject | Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis | |
dc.subject | Antibodies, Antineutrophil Cytoplasmic | |
dc.subject | Antigens, CD | |
dc.subject | Cohort Studies | |
dc.subject | Gene Frequency | |
dc.subject | Genetic Association Studies | |
dc.subject | Genetic Predisposition to Disease | |
dc.subject | Genotype | |
dc.subject | Humans | |
dc.subject | Polymorphism, Single Nucleotide | |
dc.subject | Protein Tyrosine Phosphatase, Non-Receptor Type 22 | |
dc.type | Article | |
dc.contributor.department | MEDICINE | |
dc.description.doi | 10.1186/1471-2350-10-121 | |
dc.description.sourcetitle | BMC Medical Genetics | |
dc.description.volume | 10 | |
dc.description.page | 121 | |
Appears in Collections: | Staff Publications Elements |
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