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User:Pdeitiker/HLA B7-DR15-DQ6

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HLA A3-B7-DR15-DQ6
HLA region on chromosome 6
Loci
LociGeneAlleleSerotype
Class I
centromeric		HLA-C*0702Cw7
HLA-B *0702 B7
HLA-DR HLA-DRB1 *1501 DR15
HLA-DRB5 *0101 DR51
HLA-DQ HLA-DQA1 *0102 DQ1
HLA-DQB1 *0602 DQ6
Nodes
PopulationMaximaWestern Ireland
Freq.Max6.0%
Size and location
Chromosome6
Location6p21.3
Size (kbps)2500

HLA B7-DR15-DQ6 is a multigene haplotype that covers a majority of the human major histocompatibility complex on chromosome 6. A multigene haplotype is set of inherited alleles covering several genes, or gene-alleles, common multigene haplotypes are generally the result of descent by common ancestry (share a recent common ancestor for that segment of the chromosome). Chromosomal recombination fragments multigene haplotypes as the distance to that ancestor increases in number of generations.

HLA B7-DR15-DQ6 is a represention(by serotype) of a common HLA haplotype found in Western Eurasia. The haplotype can be written in an extended form covering the major histocompatibility loci as follows:

HLA Cw*0702 : B*0702 : DRB1*1501 : DQA1*0102 : DQB1*0602

The older literature may describe this haplotype in two different ways. One B7-DR2-DQ6 derives from the fact that DR15 is a split antigen of the DR2 broad antigen serotype. The other B7-DR2-DQ1 stems from the fact that DQ1 is an alpha chain serotype that is now covered by the beta chain type DQ5 and DQ6 (DQ1 pairs with DQ5 and DQ6 by cis-haplotype pairing).

There are two major subhaplotypes one that is preceded on its telomeric side by HLA A*0301 and the other by HLA A*0201. The A*0301 bearing haplotype (HLA A3-B7-DR15-DQ6) is described as the longest known multgene haplotype in humans.

HLA A2-B7-DR15-DQ6

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The appendation of the B7::DQ6 haplotype creates the A2-B7::DQ6 haplotype. This haplotype if found often in Northern Spain, Switzerland, Netherlands.

HLA A*0201Cw*0702 : B*0702 : DRB1*1501 : DQA1*0102 : DQB1*0602

HLA A3-B7-DR15-DQ6

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HLA A3-B7 haplotype frequencies
freq Rank in
ref. Population (%) Pop.
[1] Swiss 9.1 1
[2] Ireland 8.6
[3] Austria 7.4 1
[4] Northern Ireland 6.5 1
[5] Netherlands 6.6
[3] Belgium 6.0 1
[3] Swedish 5.7 3
[6] German 5.7
[3] Polish 4.9
[3] Romanian 3.8
[3] Armenia 3.7
[3] Portuguese 3.4
[3] British 3.4
[3] Czech 3.1
[7] Svans 2.7
[3] Albania 2.7
[8] Tuscan Italy 2.7
[3] Spanish 2.6
[3] Basque 2.5
[3] Italy 1.6
[3] Greek 1.3
[9] Bulgaria 1.1
1 Cw*0702 (Europe)

The gene-allele representation of the haplotype is:

HLA A*0301Cw*0702 : B*0702 : DRB1*1501 : DQA1*0102 : DQB1*0602

This is considered now the longest of the widely distributed ancestral haplotypes, its length is 4.8 million nucleotides and extends from TRIM27 gene . . . .The haplotype is nodal in Ireland but is also at high frequency in Switzerland, it has an subnode in the Pasiegos of northern spain. There is some variance in the distribution of A3::DQ6 relative to A1::DQ2 in that there is more of a bias toward central and eastern Europe. Parts of the haplotype are spread into East Asia and even appear within the New world's indigeonous populations. DR15:DQ6 frequencies peak in central Asia, and it is suspect that this may be a point of eurasian spread westward into Europe.

While there are some diseases associated with the haplotype, the frequency of association is less compared to A1::B8.

Disease Associations

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HLA B7-DR15-DQ6 was found to have an association with postmenopausal osteoporosis in a Greek population.[10]

DR2(15 or 16)-DQ6.2 has been found to associate with (idiopathic) narcolepsy-cataplexy [11] Hypocretin ligand deficiency in the brain and cerebrospinal fluid is also link to narcolepsy-cataplexy. Dr15-DQ6 also shows an association with factors (including a genetic facto on chromosome 12p12) involved in familial multiple sclerosis[12][13] DR15-DQ6 is strongly associated with the development of choroidal neovascular lesions in presumed ocular histoplasmosis syndrome.[14]

The DR15-DQ6 haplotype may afford some greater protection against the progression of HIV.[15] However, the haplotype is a risk factor in cervical cancer.[16]

References

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  1. ^ Grundschober C, Sanchez-Mazas A, Excoffier L, Langaney A, Jeannet M, Tiercy J (1994). "HLA-DPB1 DNA polymorphism in the Swiss population: linkage disequilibrium with other HLA loci and population genetic affinities". Eur J Immunogenet. 21 (3): 143–57. doi:10.1111/j.1744-313X.1994.tb00186.x. PMID 9098428.{{cite journal}}: CS1 maint: multiple names: authors list (link)
  2. ^ Finch T, Lawlor E, Borton M, Barnes C, McNamara S, O'Riordan J, McCann S, Darke C (1997). "Distribution of HLA-A, B and DR genes and haplotypes in the Irish population". Exp Clin Immunogenet. 14 (4): 250–63. PMID 9523161.{{cite journal}}: CS1 maint: multiple names: authors list (link)
  3. ^ a b c d e f g h i j k l m n Sasazuki, Takehiko; Tsuji, Kimiyoshi; Aizawa, Miki (1992). HLA 1991: proceedings of the eleventh International Histocompatibility Workshop and Conference, held in Yokohama, Japan, 6-13 November, 1991. Oxford [Oxfordshire]: Oxford University Press. ISBN 0-19-262390-7.{{cite book}}: CS1 maint: multiple names: authors list (link)
  4. ^ Middleton D, Williams F, Hamill M, Meenagh A (2000). "Frequency of HLA-B alleles in a Caucasoid population determined by a two-stage PCR-SSOP typing strategy". Hum Immunol. 61 (12): 1285–97. doi:10.1016/S0198-8859(00)00186-5. PMID 11163085.{{cite journal}}: CS1 maint: multiple names: authors list (link)
  5. ^ Schipper R, Schreuder G, D'Amaro J, Oudshoorn M (1996). "HLA gene and haplotype frequencies in Dutch blood donors". Tissue Antigens. 48 (5): 562–74. PMID 8988539.{{cite journal}}: CS1 maint: multiple names: authors list (link)
  6. ^ <Müller C, Ehninger G, Goldmann S (2003). "Gene and haplotype frequencies for the loci hLA-A, hLA-B, and hLA-DR based on over 13,000 German blood donors". Hum Immunol. 64 (1): 137–51. doi:10.1016/S0198-8859(02)00706-1. PMID 12507825.{{cite journal}}: CS1 maint: multiple names: authors list (link)
  7. ^ Sánchez-Velasco P, Leyva-Cobián F (2001). "The HLA class I and class II allele frequencies studied at the DNA level in the Svanetian population (Upper Caucasus) and their relationships to Western European populations". Tissue Antigens. 58 (4): 223–33. doi:10.1034/j.1399-0039.2001.580402.x. PMID 11782273.
  8. ^ Marroni F, Curcio M, Fornaciari S, Lapi S, Mariotti M, Scatena F, Presciuttini S (2004). "Microgeographic variation of HLA-A, -B, and -DR haplotype frequencies in Tuscany, Italy: implications for recruitment of bone marrow donors". Tissue Antigens. 64 (4): 478–85. doi:10.1111/j.1399-0039.2004.00292.x. PMID 15361126.{{cite journal}}: CS1 maint: multiple names: authors list (link)
  9. ^ Ivanova M, Rozemuller E, Tyufekchiev N, Michailova A, Tilanus M, Naumova E (2002). "HLA polymorphism in Bulgarians defined by high-resolution typing methods in comparison with other populations". Tissue Antigens. 60 (6): 496–504. doi:10.1034/j.1399-0039.2002.600605.x. PMID 12542743.{{cite journal}}: CS1 maint: multiple names: authors list (link)
  10. ^ Douroudis K, Tarassi K, Athanassiades T; et al. (2007). "HLA alleles as predisposal factors for postmenopausal osteoporosis in a Greek population". Tissue Antigens. 69 (6): 592–6. doi:10.1111/j.1399-0039.2007.00833.x. PMID 17498269. {{cite journal}}: Explicit use of et al. in: |author= (help); Unknown parameter |month= ignored (help)CS1 maint: multiple names: authors list (link)
  11. ^ Nishino S, Kanbayashi T (2005). "Symptomatic narcolepsy, cataplexy and hypersomnia, and their implications in the hypothalamic hypocretin/orexin system". Sleep Med Rev. 9 (4): 269–310. doi:10.1016/j.smrv.2005.03.004. PMID 16006155. {{cite journal}}: Unknown parameter |month= ignored (help)
  12. ^ Stickler M, Valdes AM, Gebel W; et al. (2004). "The HLA-DR2 haplotype is associated with an increased proliferative response to the immunodominant CD4(+) T-cell epitope in human interferon-beta". Genes Immun. 5 (1): 1–7. doi:10.1038/sj.gene.6364027. PMID 14735143. {{cite journal}}: Explicit use of et al. in: |author= (help); Unknown parameter |month= ignored (help)CS1 maint: multiple names: authors list (link)
  13. ^ Vitale E, Cook S, Sun R; et al. (2002). "Linkage analysis conditional on HLA status in a large North American pedigree supports the presence of a multiple sclerosis susceptibility locus on chromosome 12p12". Hum. Mol. Genet. 11 (3): 295–300. PMID 11823448. {{cite journal}}: Explicit use of et al. in: |author= (help); Unknown parameter |month= ignored (help)CS1 maint: multiple names: authors list (link)
  14. ^ Dabil H, Kaplan HJ, Duffy BF, Phelan DL, Mohanakumar T, Jaramillo A (2003). "Association of the HLA-DR15/HLA-DQ6 haplotype with development of choroidal neovascular lesions in presumed ocular histoplasmosis syndrome". Hum. Immunol. 64 (10): 960–4. PMID 14522093. {{cite journal}}: Unknown parameter |month= ignored (help)CS1 maint: multiple names: authors list (link)
  15. ^ Vyakarnam A, Sidebottom D, Murad S; et al. (2004). "Possession of human leucocyte antigen DQ6 alleles and the rate of CD4 T-cell decline in human immunodeficiency virus-1 infection". Immunology. 112 (1): 136–42. doi:10.1111/j.1365-2567.2004.01848.x. PMC 1782463. PMID 15096192. {{cite journal}}: Explicit use of et al. in: |author= (help); Unknown parameter |month= ignored (help)CS1 maint: multiple names: authors list (link)
  16. ^ Ghaderi M, Wallin KL, Wiklund F; et al. (2002). "Risk of invasive cervical cancer associated with polymorphic HLA DR/DQ haplotypes". Int. J. Cancer. 100 (6): 698–701. doi:10.1002/ijc.10551. PMID 12209609. {{cite journal}}: Explicit use of et al. in: |author= (help); Unknown parameter |month= ignored (help)CS1 maint: multiple names: authors list (link)
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