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HLA-DR52

From Wikipedia, the free encyclopedia

Illustration of an HLA-DR (Human MHC class II) antigen receptor with bound antigen
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 *01:01
Symbol(s) HLA-DRA[permanent dead link]
EBI-HLA DRA*01:01
Identifiers
beta 3 *01 *02 *03
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

[edit]
DR52 recognition of some DRB3* alleles[3]
DRB3* 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

[edit]

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*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

[edit]

HLA-DRB3 is linked to these HLA-DR serotypes and DRB1 allele groups:

HLA-DR3 - DRB1*03

HLA-DR5 -

HLA-DR6 -

Rarely HLA-DR8 - DRB1*08[16]

HLA-DR52 - Sjögren syndrome

References

[edit]
  1. ^ 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.
  2. ^ 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.
  3. ^ derived from IMGT/HLA
  4. ^ 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.
  5. ^ Garlepp MJ (1993). "Immunogenetics of inflammatory myopathies". Baillière's Clinical Neurology. 2 (3): 579–97. PMID 8156144.
  6. ^ 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.
  7. ^ 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.
  8. ^ 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.
  9. ^ 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.
  10. ^ 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.
  11. ^ 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.
  12. ^ 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.
  13. ^ 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.
  14. ^ 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.
  15. ^ 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.
  16. ^ 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.
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