HLA-DR52 explained
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
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
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
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
Notes and References
- Gorski J, Rollini P, Mach B . 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 . 1987 . 3596674 . 10.1007/BF00396106. 25853147 .
- Gongora R, Figueroa F, Klein J . The HLA-DRB9 gene and the origin of HLA-DR haplotypes . Hum. Immunol. . 51 . 1 . 23–31 . 1996 . 8911994 . 10.1016/S0198-8859(96)00189-9 . free .
- http://www.ebi.ac.uk/imgt/hla/allele.html derived from IMGT/HLA
- Kuwana M, Kaburaki J, Okano Y, Inoko H, Tsuji K . 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 . 1993 . 7690776 . 10.1172/JCI116703 . 288271 .
- Garlepp MJ . Immunogenetics of inflammatory myopathies . Baillière's Clinical Neurology . 2 . 3 . 579–97 . 1993 . 8156144 .
- Garlepp MJ, Laing B, Zilko PJ, Ollier W, Mastaglia FL . HLA associations with inclusion body myositis . Clin. Exp. Immunol. . 98 . 1 . 40–5 . 1994 . 7923882 . 10.1111/j.1365-2249.1994.tb06604.x. 1534165 .
- Ishihara M, Ishida T, Mizuki N, Inoko H, Ando H, Ohno S . 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 . 1995 . 7742275 . 10.1136/bjo.79.4.322 . 505093 .
- Smikie M, Pascoe R, Barton E, Morgan O, Christian N, Dowe G, Roye-Green K, Bailey V, James O . HLA-DRB3*0101 is associated with Graves' disease in Jamaicans . Clin. Endocrinol. . 55 . 6 . 805–8 . 2001 . 11895223 . 10.1046/j.1365-2265.2001.01414.x. 27420443 .
- Chen Q, Huang W, She J, Baxter F, Volpe R, Maclaren N . 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 . 1999 . 10.1210/jcem.84.9.5991 . 10487684 . 45571883 . free .
- Grunewald J, Berlin M, Olerup O, Eklund A . 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 . 2000 . 10712327 . 10.1164/ajrccm.161.3.9906001.
- Bogunia-Kubik K, Tomeczko J, Suchnicki K, Lange A . HLA-DRB1*03, DRB1*11 or DRB1*12 and their respective DRB3 specificities in clinical variants of sarcoidosis . Tissue Antigens . 57 . 1 . 87–90 . 2001 . 11169267 . 10.1034/j.1399-0039.2001.057001087.x.
- Zabay J, Marco J, Soler J, Contu L, Cappai L, Carcassi C, Gómez G, Mulet J, Munar M, Viader C . 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 . 2005 . 15905891 . 10.1038/sj.jhh.1001872. 22045082 .
- Oh H, Kwon S, Kim C, Choe B, Ko C, Jung H, Suh J, Lee J . Molecular analysis of HLA class II-associated susceptibility to neuroinflammatory diseases in Korean children . J. Korean Med. Sci. . 19 . 3 . 426–30 . 2004 . 15201511 . 10.3346/jkms.2004.19.3.426 . 2816846.
- Galeazzi M . 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 . 2000 . 10715100 . 10.1177/096120330000900109 . Sebastiani G . Tincani A . Piette . J.-C. . Allegri . F. . Morozzi . G. . Bellisai . F. . Scorza . R. . Ferrara . G. B.. 208624924 .
- 10.1136/gut.43.2.210 . Cariappa A . Analysis of MHC class II DP, DQ and DR alleles in Crohn's disease . Gut . 43 . 2 . 210–5 . 1998 . 10189846 . 1727213 . Sands B . Forcione D . Finkelstein . D . Podolsky . D K . Pillai . S.
- Smith . AG . Nelson . JL . Regen . L . Guthrie . LA . Donadi . E . Mickelson . EM . Hansen . JA . 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 . August 1996 . 48 . 2 . 118–26 . 10.1111/j.1399-0039.1996.tb02616.x . 8883301.