WFRF:(Lamb JA)
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| Fältnamn | Indikatorer | Metadata |
|---|---|---|
| 000 | 04813naa a2200877 4500 | |
| 001 | oai:prod.swepub.kib.ki.se:141142508 | |
| 003 | SwePub | |
| 008 | 240701s2019 | |||||||||||000 ||eng| | |
| 024 | 7 | a http://kipublications.ki.se/Default.aspx?queryparsed=id:1411425082 URI |
| 024 | 7 | a https://doi.org/10.1136/annrheumdis-2019-2150462 DOI |
| 040 | a (SwePub)ki | |
| 041 | a engb eng | |
| 042 | 9 SwePub | |
| 072 | 7 | a ref2 swepub-contenttype |
| 072 | 7 | a art2 swepub-publicationtype |
| 100 | 1 | a Rothwell, S4 aut |
| 245 | 1 0 | a Focused HLA analysis in Caucasians with myositis identifies significant associations with autoantibody subgroups |
| 264 | c 2019-05-28 | |
| 264 | 1 | b BMJ,c 2019 |
| 520 | a Idiopathic inflammatory myopathies (IIM) are a spectrum of rare autoimmune diseases characterised clinically by muscle weakness and heterogeneous systemic organ involvement. The strongest genetic risk is within the major histocompatibility complex (MHC). Since autoantibody presence defines specific clinical subgroups of IIM, we aimed to correlate serotype and genotype, to identify novel risk variants in the MHC region that co-occur with IIM autoantibodies.MethodsWe collected available autoantibody data in our cohort of 2582 Caucasian patients with IIM. High resolution human leucocyte antigen (HLA) alleles and corresponding amino acid sequences were imputed using SNP2HLA from existing genotyping data and tested for association with 12 autoantibody subgroups.ResultsWe report associations with eight autoantibodies reaching our study-wide significance level of p<2.9×10–5. Associations with the 8.1 ancestral haplotype were found with anti-Jo-1 (HLA-B*08:01, p=2.28×10–53 and HLA-DRB1*03:01, p=3.25×10–9), anti-PM/Scl (HLA-DQB1*02:01, p=1.47×10–26) and anti-cN1A autoantibodies (HLA-DRB1*03:01, p=1.40×10–11). Associations independent of this haplotype were found with anti-Mi-2 (HLA-DRB1*07:01, p=4.92×10–13) and anti-HMGCR autoantibodies (HLA-DRB1*11, p=5.09×10–6). Amino acid positions may be more strongly associated than classical HLA associations; for example with anti-Jo-1 autoantibodies and position 74 of HLA-DRB1 (p=3.47×10–64) and position 9 of HLA-B (p=7.03×10–11). We report novel genetic associations with HLA-DQB1 anti-TIF1 autoantibodies and identify haplotypes that may differ between adult-onset and juvenile-onset patients with these autoantibodies.ConclusionsThese findings provide new insights regarding the functional consequences of genetic polymorphisms within the MHC. As autoantibodies in IIM correlate with specific clinical features of disease, understanding genetic risk underlying development of autoantibody profiles has implications for future research. | |
| 700 | 1 | a Chinoy, H4 aut |
| 700 | 1 | a Lamb, JA4 aut |
| 700 | 1 | a Miller, FW4 aut |
| 700 | 1 | a Rider, LG4 aut |
| 700 | 1 | a Wedderburn, LR4 aut |
| 700 | 1 | a McHugh, NJ4 aut |
| 700 | 1 | a Mammen, AL4 aut |
| 700 | 1 | a Betteridge, ZE4 aut |
| 700 | 1 | a Tansley, SL4 aut |
| 700 | 1 | a Bowes, J4 aut |
| 700 | 1 | a Vencovsky, J4 aut |
| 700 | 1 | a Deakin, CT4 aut |
| 700 | 1 | a Danko, K4 aut |
| 700 | 1 | a Vidya, L4 aut |
| 700 | 1 | a Selva-O'Callaghan, A4 aut |
| 700 | 1 | a Pachman, LM4 aut |
| 700 | 1 | a Reed, AM4 aut |
| 700 | 1 | a Molberg, O4 aut |
| 700 | 1 | a Benveniste, O4 aut |
| 700 | 1 | a Mathiesen, PR4 aut |
| 700 | 1 | a Radstake, TRDJ4 aut |
| 700 | 1 | a Doria, A4 aut |
| 700 | 1 | a de Bleecker, J4 aut |
| 700 | 1 | a Lee, AT4 aut |
| 700 | 1 | a Hanna, MG4 aut |
| 700 | 1 | a Machado, PM4 aut |
| 700 | 1 | a Ollier, WE4 aut |
| 700 | 1 | a Gregersen, PK4 aut |
| 700 | 1 | a Padyukov, Lu Karolinska Institutet4 aut |
| 700 | 1 | a O'Hanlon, TP4 aut |
| 700 | 1 | a Cooper, RG4 aut |
| 700 | 1 | a Lundberg, IEu Karolinska Institutet4 aut |
| 700 | 1 | a Adams, BS4 aut |
| 700 | 1 | a Bingham, CA4 aut |
| 700 | 1 | a Cawkwell, GD4 aut |
| 700 | 1 | a Finkel, TH4 aut |
| 700 | 1 | a George, SW4 aut |
| 700 | 1 | a Gewanter, HL4 aut |
| 700 | 1 | a Goldmuntz, EA4 aut |
| 700 | 1 | a Goldsmith, DP4 aut |
| 700 | 1 | a Henrickson, M4 aut |
| 700 | 1 | a Imundo, L4 aut |
| 700 | 1 | a Katona, IM4 aut |
| 700 | 1 | a Lindsley, CB4 aut |
| 700 | 1 | a Oddis, CP4 aut |
| 700 | 1 | a Olson, JC4 aut |
| 700 | 1 | a Sherry, D4 aut |
| 700 | 1 | a Vogelgesang, SA4 aut |
| 700 | 1 | a Wallace, CA4 aut |
| 700 | 1 | a White, PH4 aut |
| 700 | 1 | a Zemel, LS4 aut |
| 710 | 2 | a Karolinska Institutet4 org |
| 773 | 0 | t Annals of the rheumatic diseasesd : BMJg 78:7, s. 996-1002q 78:7<996-1002x 1468-2060x 0003-4967 |
| 856 | 4 | u https://ard.bmj.com/content/annrheumdis/78/7/996.full.pdf |
| 856 | 4 8 | u http://kipublications.ki.se/Default.aspx?queryparsed=id:141142508 |
| 856 | 4 8 | u https://doi.org/10.1136/annrheumdis-2019-215046 |
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- Annals of the rheumatic diseases (Sök värdpublikationen i LIBRIS)
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- Rothwell, S
- Chinoy, H
- Lamb, JA
- Miller, FW
- Rider, LG
- Wedderburn, LR
- visa fler...
- McHugh, NJ
- Mammen, AL
- Betteridge, ZE
- Tansley, SL
- Bowes, J
- Vencovsky, J
- Deakin, CT
- Danko, K
- Vidya, L
- Selva-O'Callagha ...
- Pachman, LM
- Reed, AM
- Molberg, O
- Benveniste, O
- Mathiesen, PR
- Radstake, TRDJ
- Doria, A
- de Bleecker, J
- Lee, AT
- Hanna, MG
- Machado, PM
- Ollier, WE
- Gregersen, PK
- Padyukov, L
- O'Hanlon, TP
- Cooper, RG
- Lundberg, IE
- Adams, BS
- Bingham, CA
- Cawkwell, GD
- Finkel, TH
- George, SW
- Gewanter, HL
- Goldmuntz, EA
- Goldsmith, DP
- Henrickson, M
- Imundo, L
- Katona, IM
- Lindsley, CB
- Oddis, CP
- Olson, JC
- Sherry, D
- Vogelgesang, SA
- Wallace, CA
- White, PH
- Zemel, LS
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