major histocompatibility complex, class II, DR53
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Haplotypes groups | DRA*01:DRB3*01 DRA*01:DRB3*02 DRA*01:DRB3*03 | |
Structure (See HLA-DR) | ||
Identifiers | alpha *01:01
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Symbol(s) | HLA-DRA[permanent dead link ] | |
EBI-HLA | DRA*01:01 | |
Identifiers | beta 3 *01 *02 *03
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Symbol(s) | HLA-DRB3[permanent dead link ] | |
EBI-HLA | DRB3*01 | |
EBI-HLA | DRB3*02 | |
EBI-HLA | DRB3*03 Archived 2011-05-15 at the Wayback Machine | |
Shared data | ||
Locus | chr.6 6p21.31 |
HLA-DR52 is an HLA-DR serotype that recognizes gene products of HLA-DRB3 locus. Three allele groups can produce 35 isoforms.
DRB3, DRB4, and DRB5 are minor DR beta-encoding loci, and they have been recognized as having distinct evolution,[1] having diverged from DRB1 around 4 million years ago.[2]
The DRB3 locus is only apparent in a small subset of DR haplotypes, and most individuals lack DRB3.
Alleles
editDRB3* | DR52 | ? | Sample |
allele | % | % | size (N) |
01:01 | 95 | 62 | |
01:02 | 99 | 1 | |
02:01 | 99 | 2 | |
02:02 | 95 | 100 | |
02:03 | 95 | 1 | |
03:01 | 95 | 36 |
Associated diseases
editDR52 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*01:01:DRB1*03:01 is linked to Lofgren's syndrome[11]
DRB3*02:02 is also linked to Grave's disease,[9] serum IgG antibodies to Chlamydia pneumoniae with essential hypertension,[12] acute necrotizing encephalopathy[13]
DRB3*03:01 is weakly associated with anticardiolipin antibodies in SLE[14]
DRB3*03:01:DRB1*13:02 may be associated with Crohn's disease[15]
DRB1 linkage
editHLA-DRB3 is linked to these HLA-DR serotypes and DRB1 allele groups:
HLA-DR3 - DRB1*03
HLA-DR5 -
HLA-DR6 -
HLA-DR52 - Sjögren syndrome
References
edit- ^ 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. doi:10.1007/BF00396106. PMID 3596674. S2CID 25853147.
- ^ Gongora R, Figueroa F, Klein J (1996). "The HLA-DRB9 gene and the origin of HLA-DR haplotypes". Hum. Immunol. 51 (1): 23–31. doi:10.1016/S0198-8859(96)00189-9. 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. doi:10.1172/JCI116703. PMC 288271. 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. doi:10.1111/j.1365-2249.1994.tb06604.x. PMC 1534165. 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. doi:10.1136/bjo.79.4.322. PMC 505093. 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. 55 (6): 805–8. doi:10.1046/j.1365-2265.2001.01414.x. PMID 11895223. S2CID 27420443.
- ^ 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. doi:10.1210/jcem.84.9.5991. PMID 10487684. S2CID 45571883.
- ^ 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. doi:10.1164/ajrccm.161.3.9906001. 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. doi:10.1034/j.1399-0039.2001.057001087.x. 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. doi:10.1038/sj.jhh.1001872. PMID 15905891. S2CID 22045082.
- ^ 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. doi:10.3346/jkms.2004.19.3.426. PMC 2816846. PMID 15201511.
- ^ Galeazzi M, Sebastiani G, Tincani A, Piette JC, Allegri F, Morozzi G, Bellisai F, Scorza R, Ferrara GB (2000). "HLA class II alleles associations of anticardiolipin and antibeta2GPI antibodies in a large series of European patients with systemic lupus erythematosus". Lupus. 9 (1): 47–55. doi:10.1177/096120330000900109. PMID 10715100. S2CID 208624924.
- ^ Cariappa A, Sands B, Forcione D, Finkelstein D, Podolsky DK, Pillai S (1998). "Analysis of MHC class II DP, DQ and DR alleles in Crohn's disease". Gut. 43 (2): 210–5. doi:10.1136/gut.43.2.210. PMC 1727213. PMID 10189846.
- ^ Smith AG, Nelson JL, Regen L, Guthrie LA, Donadi E, Mickelson EM, Hansen JA (August 1996). "Six new DR52-associated DRB1 alleles, three of DR8, two of DR11, and one of DR6, reflect a variety of mechanisms which generate polymorphism in the MHC". Tissue Antigens. 48 (2): 118–26. doi:10.1111/j.1399-0039.1996.tb02616.x. PMID 8883301.