HLA-DR52
major histocompatibility complex, class II, DR53 | ||
Haplotypes groups | DRA*01:DRB3*01 DRA*01:DRB3*02 DRA*01:DRB3*03 | |
Structure (See HLA-DR) | ||
Identifiers | alpha *0101 | |
Symbol(s) | HLA-DRA | |
EBI-HLA | DRA*0101 | |
Identifiers | beta 3 *01 *02 *03 | |
Symbol(s) | HLA-DRB3 | |
EBI-HLA | DRB3*01 | |
EBI-HLA | DRB3*02 | |
EBI-HLA | DRB3*03 | |
Shared data | ||
Locus | chr.6 6p21.31 | |
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.
Alleles
DRB3* | DR52 | ? | Sample |
allele | % | % | size (N) |
0101 | 95 | 62 | |
0102 | 99 | 1 | |
0201 | 99 | 2 | |
0202 | 95 | 100 | |
0203 | 95 | 1 | |
0301 | 95 | 36 | |
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 disease[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. doi:10.1007/BF00396106. 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. 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 (Oxf). 55 (6): 805–8. doi:10.1046/j.1365-2265.2001.01414.x. PMID 11895223.
- 1 2 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/jc.84.9.3182. 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. 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.
- ↑ 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, 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. doi:10.1177/096120330000900109. 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. doi:10.1136/gut.43.2.210. PMC 1727213. PMID 10189846.