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major histocompatibility complex, class II, DR53
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Haplotypes groups
| DRA*01:DRB3*01 DRA*01:DRB3*02 DRA*01:DRB3*03
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Structure (See HLA-DR)
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Identifiers | alpha *0101
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Symbol(s)
| HLA-DRA
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EBI-HLA
| DRA*0101
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Identifiers | beta 3 *01 *02 *03
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Symbol(s)
| HLA-DRB4
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EBI-HLA
| DRB3*01
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EBI-HLA
| DRB3*02
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EBI-HLA
| DRB4*03
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Shared data
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Locus
| chr.6 6p21.31
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HLA-DR52 is an HLA-DR serotype that recognizes gene products of HLA-DRB3 locus. There are 3 allele groups that can produce 35 isoforms.
DRB3, DRB4, and DRB5 are minor DR beta encoding loci, they have been recognized as having distinct evolution.[1] having diverged from DRB1 approximately 4 million years ago.[2]
DRB3 locus is only apparent in a small subset of DR haplotypes, and most individuals lack DRB3.
Additional recommended knowledge
Alleles
DR52 recognition of some DRB3* alleles[3]
DRB3* | DR52
| ? | Sample
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allele | % | % | size (N)
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0101 | 95 | | 62
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0102 | 99 | | 1
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0201 | 99 | | 2
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0202 | 95 | | 100
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0203 | 95 | | 1
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0301 | 95 | | 36
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Associated diseases
DR52 serotype is positively associated with systemic sclerosis,[4] inflammatory myopathies,[5] inclusion body myositis,[6]
DRB3*01 is positively associated with sarcoidosis,[7] Grave's Disease, [8][9] pulmonary sarcoidosis,[10]
DRB3*0101:DRB1*0301 is linked to Lofgren's syndrome[11]
DRB3*0202 is also linked to Grave's disease[9], serum IgG antibodies to Chlamydia pneumoniae with essential hypertension,[12], acute necrotizing encephalopathy[13]
DRB3*0301 is weakly associated with anti-cardiolipin antibodies in SLE[14]
DRB3*0301:DRB1*1302 may be associated with Crohn's diseaes[15]
DRB1 linkage
HLA-DRB3 is linked to the following HLA-DR serotypes and DRB1 allele groups.
HLA-DR3 - DRB1*03
HLA-DR5 -
HLA-DR6 -
References
- ^ Gorski J, Rollini P, Mach B (1987). "Structural comparison of the genes of two HLA-DR supertypic groups: the loci encoding DRw52 and DRw53 are not truly allelic". Immunogenetics 25 (6): 397-402. PMID 3596674.
- ^ Gongora R, Figueroa F, Klein J (1996). "The HLA-DRB9 gene and the origin of HLA-DR haplotypes". Hum. Immunol. 51 (1): 23-31. PMID 8911994.
- ^ derived from IMGT/HLA
- ^ Kuwana M, Kaburaki J, Okano Y, Inoko H, Tsuji K (1993). "The HLA-DR and DQ genes control the autoimmune response to DNA topoisomerase I in systemic sclerosis (scleroderma)". J. Clin. Invest. 92 (3): 1296-301. PMID 7690776.
- ^ Garlepp MJ (1993). "Immunogenetics of inflammatory myopathies". Baillière's clinical neurology 2 (3): 579-97. PMID 8156144.
- ^ Garlepp MJ, Laing B, Zilko PJ, Ollier W, Mastaglia FL (1994). "HLA associations with inclusion body myositis". Clin. Exp. Immunol. 98 (1): 40-5. PMID 7923882.
- ^ Ishihara M, Ishida T, Mizuki N, Inoko H, Ando H, Ohno S (1995). "Clinical features of sarcoidosis in relation to HLA distribution and HLA-DRB3 genotyping by PCR-RFLP". The British journal of ophthalmology 79 (4): 322-5. PMID 7742275.
- ^ Smikie M, Pascoe R, Barton E, Morgan O, Christian N, Dowe G, Roye-Green K, Bailey V, James O (2001). "HLA-DRB3*0101 is associated with Graves' disease in Jamaicans.". Clin Endocrinol (Oxf) 55 (6): 805-8. PMID 11895223.
- ^ a b Chen Q, Huang W, She J, Baxter F, Volpe R, Maclaren N (1999). "HLA-DRB1*08, DRB1*03/DRB3*0101, and DRB3*0202 are susceptibility genes for Graves' disease in North American Caucasians, whereas DRB1*07 is protective.". J Clin Endocrinol Metab 84 (9): 3182-6. PMID 10487684.
- ^ Grunewald J, Berlin M, Olerup O, Eklund A (2000). "Lung T-helper cells expressing T-cell receptor AV2S3 associate with clinical features of pulmonary sarcoidosis.". Am J Respir Crit Care Med 161 (3 Pt 1): 814-8. PMID 10712327.
- ^ Bogunia-Kubik K, Tomeczko J, Suchnicki K, Lange A (2001). "HLA-DRB1*03, DRB1*11 or DRB1*12 and their respective DRB3 specificities in clinical variants of sarcoidosis.". Tissue Antigens 57 (1): 87-90. PMID 11169267.
- ^ Zabay J, Marco J, Soler J, Contu L, Cappai L, Carcassi C, Gómez G, Mulet J, Munar M, Viader C (2005). "Association of HLA-DRB3*0202 and serum IgG antibodies to Chlamydia pneumoniae with essential hypertension in a highly homogeneous population from Majorca (Balearic Islands, Spain).". J Hum Hypertens 19 (8): 615-22. PMID 15905891.
- ^ Oh H, Kwon S, Kim C, Choe B, Ko C, Jung H, Suh J, Lee J (2004). "Molecular analysis of HLA class II-associated susceptibility to neuroinflammatory diseases in Korean children.". J Korean Med Sci 19 (3): 426-30. PMID 15201511.
- ^ Galeazzi M, Sebastiani G, Tincani A, et al. (2000). "HLA class II alleles associations of anticardiolipin and anti-beta2GPI antibodies in a large series of European patients with systemic lupus erythematosus.". Lupus 9 (1): 47-55. PMID 10715100.
- ^ Cariappa A, Sands B, Forcione D, et al. (1998). "Analysis of MHC class II DP, DQ and DR alleles in Crohn's disease.". Gut 43 (2): 210-5. PMID 10189846.
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