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A1 serotype was associated with a number of diseases as [[History and naming of human leukocyte antigens|"HL-A"' antigens were first being described]]. Among these were [[coeliac disease]], [[autoimmune hepatitis|autoimmune active chronic hepatitis]], [[myasthenia gravis]], Adrenocortical hyperfunction-[[Cushing's syndrome]], [[primary biliary cirrhosis]].<ref name="pmid305233">{{cite journal |author=Clarke AK, Galbraith RM, Hamilton EB, Williams R |title=Rheumatic disorders in primary biliary cirrhosis |journal=Ann. Rheum. Dis. |volume=37 |issue=1 |pages=42–7 |year=1978 |month=February |pmid=305233 |pmc=1000187 |doi= |url=http://ard.bmj.com/cgi/pmidlookup?view=long&pmid=305233}}</ref><ref name="pmid618054">{{cite journal |author=Lada G, Gyódi E, Gláz E |title=HLA antigens in patients with adrenocortical hyperfunction |journal=Acta Med Acad Sci Hung |volume=34 |issue=4 |pages=213–26 |year=1977 |pmid=618054 |doi= |url=}}</ref><ref name="pmid4282973">{{cite journal |author=Ludwig H, Polymenidis Z, Granditsch G, Wick G |title=[Association of HL-A1 and HL-A8 with childhood celiac disease] |language=German |journal=Z Immunitatsforsch Exp Klin Immunol |volume=146 |issue=2 |pages=158–67 |year=1973 |month=November |pmid=4282973 |doi= |url=}}</ref><ref name="pmid4116233">{{cite journal |author=Mackay IR, Morris PJ |title=Association of autoimmune active chronic hepatitis with HL-A1,8 |journal=Lancet |volume=2 |issue=7781 |pages=793–5 |year=1972 |month=October |pmid=4116233 |doi= |url=}}</ref><ref name="pmid1081023">{{cite journal |author=Hammarström L, Smith E, Möller E, Franksson C, Matell G, Von Reis G |title=Myasthenia gravis: studies on HL-A antigens and lymphocyte subpopulations in patients with myasthenia gravis |journal=Clin. Exp. Immunol. |volume=21 |issue=2 |pages=202–15 |year=1975 |month=August |pmid=1081023 |pmc=1538268 |doi= |url=}}</ref> However as study sizes increased and D serotypes were described in more detail, the association of these loci moved from the [[MHC class I]] loci to the [[MHC class II]] loci. Underlying this move was the [[HLA A1-B8-DR3-DQ2]] haplotype, a haplotype that is in acute [[linkage disequilibrium]] in the European population.<ref name="pmid858444">{{cite journal |author=Gazit E, Sartani A, Mizrachi Y, Ravid M |title=HLA antigen in Jewish patients with juvenile diabetes mellitus |journal=Diabete Metab |volume=3 |issue=1 |pages=55–8 |year=1977 |month=March |pmid=858444 |doi= |url=}}</ref><ref name="pmid89064">{{cite journal |author=Vogten AJ, Shorter RG, Opelz G |title=HLA and cell-mediated immunity in HBsAg negative chronic active hepatitis |journal=Gut |volume=20 |issue=6 |pages=523–5 |year=1979 |month=June |pmid=89064 |pmc=1412459 |doi= |url=http://gut.bmj.com/cgi/pmidlookup?view=long&pmid=89064}}</ref><ref name="pmid12731577">{{cite journal |author=Ercilla G, Parés A, Arriaga F, ''et al'' |title=Primary biliary cirrhosis associated with HLA-DRw3 |journal=Tissue Antigens |volume=14 |issue=5 |pages=449–52 |year=1979 |month=November |pmid=12731577 |doi= |url=}}</ref><ref name="pmid7430678">{{cite journal |author=Robinson BN, Roberts DF, Mather BA, Nelson R, Rowlatt AS |title=Coeliac disease and HLA: a family study |journal=J. Immunogenet. |volume=7 |issue=5 |pages=381–91 |year=1980 |month=October |pmid=7430678 |doi= |url=}}</ref><ref name="pmid6192959">{{cite journal |author=Tosi R, Vismara D, Tanigaki N, ''et al'' |title=Evidence that celiac disease is primarily associated with a DC locus allelic specificity |journal=Clin. Immunol. Immunopathol. |volume=28 |issue=3 |pages=395–404 |year=1983 |month=September |pmid=6192959 |doi= |url=}}</ref> This disequilibrium made it appear that A1 and other class I gene-alleles were disease factors, when these alleles were only attached to a long segment of conserved DNA that had disease associated genes on the other end. In at least 2 diseases, the risk of autoimmune disease extends beyond the class II region of the haplotype.
A1 serotype was associated with a number of diseases as [[History and naming of human leukocyte antigens|"HL-A"' antigens were first being described]]. Among these were [[coeliac disease]], [[autoimmune hepatitis|autoimmune active chronic hepatitis]], [[myasthenia gravis]], Adrenocortical hyperfunction-[[Cushing's syndrome]], [[primary biliary cirrhosis]].<ref name="pmid305233">{{cite journal |author=Clarke AK, Galbraith RM, Hamilton EB, Williams R |title=Rheumatic disorders in primary biliary cirrhosis |journal=Ann. Rheum. Dis. |volume=37 |issue=1 |pages=42–7 |year=1978 |month=February |pmid=305233 |pmc=1000187 |doi= |url=http://ard.bmj.com/cgi/pmidlookup?view=long&pmid=305233}}</ref><ref name="pmid618054">{{cite journal |author=Lada G, Gyódi E, Gláz E |title=HLA antigens in patients with adrenocortical hyperfunction |journal=Acta Med Acad Sci Hung |volume=34 |issue=4 |pages=213–26 |year=1977 |pmid=618054 |doi= |url=}}</ref><ref name="pmid4282973">{{cite journal |author=Ludwig H, Polymenidis Z, Granditsch G, Wick G |title=[Association of HL-A1 and HL-A8 with childhood celiac disease] |language=German |journal=Z Immunitatsforsch Exp Klin Immunol |volume=146 |issue=2 |pages=158–67 |year=1973 |month=November |pmid=4282973 |doi= |url=}}</ref><ref name="pmid4116233">{{cite journal |author=Mackay IR, Morris PJ |title=Association of autoimmune active chronic hepatitis with HL-A1,8 |journal=Lancet |volume=2 |issue=7781 |pages=793–5 |year=1972 |month=October |pmid=4116233 |doi= |url=}}</ref><ref name="pmid1081023">{{cite journal |author=Hammarström L, Smith E, Möller E, Franksson C, Matell G, Von Reis G |title=Myasthenia gravis: studies on HL-A antigens and lymphocyte subpopulations in patients with myasthenia gravis |journal=Clin. Exp. Immunol. |volume=21 |issue=2 |pages=202–15 |year=1975 |month=August |pmid=1081023 |pmc=1538268 |doi= |url=}}</ref> However as study sizes increased and D serotypes were described in more detail, the association of these loci moved from the [[MHC class I]] loci to the [[MHC class II]] loci. Underlying this move was the [[HLA A1-B8-DR3-DQ2]] haplotype, a haplotype that is in acute [[linkage disequilibrium]] in the European population.<ref name="pmid858444">{{cite journal |author=Gazit E, Sartani A, Mizrachi Y, Ravid M |title=HLA antigen in Jewish patients with juvenile diabetes mellitus |journal=Diabete Metab |volume=3 |issue=1 |pages=55–8 |year=1977 |month=March |pmid=858444 |doi= |url=}}</ref><ref name="pmid89064">{{cite journal |author=Vogten AJ, Shorter RG, Opelz G |title=HLA and cell-mediated immunity in HBsAg negative chronic active hepatitis |journal=Gut |volume=20 |issue=6 |pages=523–5 |year=1979 |month=June |pmid=89064 |pmc=1412459 |doi= |url=http://gut.bmj.com/cgi/pmidlookup?view=long&pmid=89064}}</ref><ref name="pmid12731577">{{cite journal |author=Ercilla G, Parés A, Arriaga F, ''et al'' |title=Primary biliary cirrhosis associated with HLA-DRw3 |journal=Tissue Antigens |volume=14 |issue=5 |pages=449–52 |year=1979 |month=November |pmid=12731577 |doi= |url=}}</ref><ref name="pmid7430678">{{cite journal |author=Robinson BN, Roberts DF, Mather BA, Nelson R, Rowlatt AS |title=Coeliac disease and HLA: a family study |journal=J. Immunogenet. |volume=7 |issue=5 |pages=381–91 |year=1980 |month=October |pmid=7430678 |doi= |url=}}</ref><ref name="pmid6192959">{{cite journal |author=Tosi R, Vismara D, Tanigaki N, ''et al'' |title=Evidence that celiac disease is primarily associated with a DC locus allelic specificity |journal=Clin. Immunol. Immunopathol. |volume=28 |issue=3 |pages=395–404 |year=1983 |month=September |pmid=6192959 |doi= |url=}}</ref> This disequilibrium made it appear that A1 and other class I gene-alleles were disease factors, when these alleles were only attached to a long segment of conserved DNA that had disease associated genes on the other end. In at least 2 diseases, the risk of autoimmune disease extends beyond the class II region of the haplotype.


The "HL-A1,8 phenotype" was found to be associated with severe [[systemic lupus erythematosus]] (SLE) (renal and central nervous system involvement) in Caucasian patients.<ref name="pmid1259797">{{cite journal |author=Goldberg MA, Arnett FC, Bias WB, Shulman LE |title=Histocompatibility antigens in systemic lupus erythematosus |journal=Arthritis Rheum. |volume=19 |issue=2 |pages=129–32 |year=1976 |pmid=1259797 |doi= |url=}}</ref> Two-point haplotype analysis between [[TNFB]](B*01 allele) and HLA show that the allele is in linkage disequilibrium with HLA-A1, Cw7, B8, C4A(Null), DR3, DQ2.5.<ref name="pmid15219382">{{cite journal |author=Parks CG, Pandey JP, Dooley MA, ''et al'' |title=Genetic polymorphisms in tumor necrosis factor (TNF)-alpha and TNF-beta in a population-based study of systemic lupus erythematosus: associations and interaction with the interleukin-1alpha-889 C/T polymorphism |journal=Hum. Immunol. |volume=65 |issue=6 |pages=622–31 |year=2004 |month=June |pmid=15219382 |doi=10.1016/j.humimm.2004.03.001 |url=}}</ref> While type 1 diabetes shows an extended association on the HLA A1-B8-DR3-DQ2 haplotype, the association appears not to extend beyond the HLA-B locus.
The "HL-A1,8 phenotype" was found to be associated with severe [[systemic lupus erythematosus]] (SLE) (renal and central nervous system involvement) in Caucasian patients.<ref name="pmid1259797">{{cite journal |author=Goldberg MA, Arnett FC, Bias WB, Shulman LE |title=Histocompatibility antigens in systemic lupus erythematosus |journal=Arthritis Rheum. |volume=19 |issue=2 |pages=129–32 |year=1976 |pmid=1259797 |doi= |url=}}</ref> Two-point haplotype analysis between [[TNFB]](B*01 allele) and HLA show that the allele is in linkage disequilibrium with HLA-A1, Cw7, B8, C4A(Null), DR3, DQ2.5.<ref name="pmid15219382">{{cite journal |author=Parks CG, Pandey JP, Dooley MA, ''et al'' |title=Genetic polymorphisms in tumor necrosis factor (TNF)-alpha and TNF-beta in a population-based study of systemic lupus erythematosus: associations and interaction with the interleukin-1alpha-889 C/T polymorphism |journal=Hum. Immunol. |volume=65 |issue=6 |pages=622–31 |year=2004 |month=June |pmid=15219382 |doi=10.1016/j.humimm.2004.03.001 |url=}}</ref> While type 1 diabetes shows an extended association on the HLA A1-B8-DR3-DQ2 haplotype, the association appears not to extend beyond the HLA-B locus.<ref name="pmid18486765">{{cite journal |author=Noble JA, Martin A, Valdes AM, ''et al'' |title=Type 1 diabetes risk for human leukocyte antigen (HLA)-DR3 haplotypes depends on genotypic context: association of DPB1 and HLA class I loci among DR3- and DR4-matched Italian patients and controls |journal=Hum. Immunol. |volume=69 |issue=4-5 |pages=291–300 |year=2008 |pmid=18486765 |pmc=2505335 |doi=10.1016/j.humimm.2008.02.003 |url=}}</ref> A recent study of DR3-DQ2/DR4-DQ8 phenotype found that A1-cw7-B8 was actually lower than expected relative to other A-B types, indicating that risk associated genes are located between B8 and DR3. The type 1 diabetes example shows the inherent difficulty in the use of linkage analysis alone to cipher risk.


In ''allergic'' disease A1,B8 were found to associate with allergic reactions in new-borns. <ref name="pmid963861">{{cite journal |author=Soothill JF, Stokes CR, Turner MW, Norman AP, Taylor B |title=Predisposing factors and the development of reaginic allergy in infancy |journal=Clin. Allergy |volume=6 |issue=4 |pages=305–19 |year=1976 |month=July |pmid=963861 |doi= |url=}}</ref> A1, B8 was found increased in children with bronchial asthma and low IgA.<ref name="pmid477683">{{cite journal |author=Ostergaard PA, Eriksen J |title=Association between HLA-A1,B8 in children with extrinsic asthma and IgA deficiency |journal=Eur. J. Pediatr. |volume=131 |issue=4 |pages=263–70 |year=1979 |month=August |pmid=477683 |doi= |url=}}</ref> However, some of this reaction can be attributed to the linkage of the HLA A1-B8-DR3-DQ2 haplotype to the IgA-less phenotype.<ref name="pmid872455">{{cite journal |author=Ambrus M, Hernádi E, Bajtai G |title=Prevalence of HLA-A1 and HLA-B8 antigens in selective IgA deficiency |journal=Clin. Immunol. Immunopathol. |volume=7 |issue=3 |pages=311–4 |year=1977 |month=May |pmid=872455 |doi= |url=}}</ref> A firmer association was found with [[atopies]].<ref name="pmid327293">{{cite journal |author=Dasgupta A, Misri N, Bala S |title=Population and family studies to demonstrate Ir genes: HLA haplotype in atopic allergy |journal=Monogr Allergy |volume=11 |issue= |pages=75–9 |year=1977 |pmid=327293 |doi= |url=}}</ref><ref name="pmid453484">{{cite journal |author=MacKie RM, Dick HM |title=A study of HLA antigen distribution in families with atopic dermatitis |journal=Allergy |volume=34 |issue=1 |pages=19–23 |year=1979 |month=February |pmid=453484 |doi= |url=}}</ref><ref name="pmid6611606">{{cite journal |author=Heikkilä M, Koistinen J, Lohman M, Koskimies S |title=Increased frequency of HLA-A1 and -B8 in association with total lack, but not with deficiency of serum IgA |journal=Tissue Antigens |volume=23 |issue=5 |pages=280–3 |year=1984 |month=May |pmid=6611606 |doi= |url=}}</ref> A1,B8 where found more frequently in hay fever complicated by asthma or atopia relative to just hay fever.<ref name="pmid849649">{{cite journal |author=Turner MW, Brostoff TJ, Wells RS, Stokes CR, Soothill JF |title=HLA in eczema and hay fever |journal=Clin. Exp. Immunol. |volume=27 |issue=1 |pages=43–7 |year=1977 |month=January |pmid=849649 |pmc=1540890 |doi= |url=}}</ref><ref name="pmid876128">{{cite journal |author=Jeannet M, Girard JP, Varonier HS, Mirimanoff P, Joye P |title=HLA antigens in grass pollinosis |journal=Monogr Allergy |volume=11 |issue= |pages=69–73 |year=1977 |pmid=876128 |doi= |url=}}</ref><ref name="pmid539526">{{cite journal |author=Oehling A, Baena-Cagnani CE, Sanz ML, Crisci CD |title=HLA and pollinosis |journal=Allergol Immunopathol (Madr) |volume=7 |issue=6 |pages=423–6 |year=1979 |pmid=539526 |doi= |url=}}</ref> Further asthmatic patients with negative skin tests tended toward higher A1,B8 serotypes.<ref name="pmid876121">{{cite journal |author=Morris MJ, Vaughan H, Lane DJ, Morris PJ |title=HLA in asthma |journal=Monogr Allergy |volume=11 |issue= |pages=30–4 |year=1977 |pmid=876121 |doi= |url=}}</ref>
In ''allergic'' disease A1,B8 were found to associate with allergic reactions in new-borns. <ref name="pmid963861">{{cite journal |author=Soothill JF, Stokes CR, Turner MW, Norman AP, Taylor B |title=Predisposing factors and the development of reaginic allergy in infancy |journal=Clin. Allergy |volume=6 |issue=4 |pages=305–19 |year=1976 |month=July |pmid=963861 |doi= |url=}}</ref> A1, B8 was found increased in children with bronchial asthma and low IgA.<ref name="pmid477683">{{cite journal |author=Ostergaard PA, Eriksen J |title=Association between HLA-A1,B8 in children with extrinsic asthma and IgA deficiency |journal=Eur. J. Pediatr. |volume=131 |issue=4 |pages=263–70 |year=1979 |month=August |pmid=477683 |doi= |url=}}</ref> However, some of this reaction can be attributed to the linkage of the HLA A1-B8-DR3-DQ2 haplotype to the IgA-less phenotype.<ref name="pmid872455">{{cite journal |author=Ambrus M, Hernádi E, Bajtai G |title=Prevalence of HLA-A1 and HLA-B8 antigens in selective IgA deficiency |journal=Clin. Immunol. Immunopathol. |volume=7 |issue=3 |pages=311–4 |year=1977 |month=May |pmid=872455 |doi= |url=}}</ref> A firmer association was found with [[atopies]].<ref name="pmid327293">{{cite journal |author=Dasgupta A, Misri N, Bala S |title=Population and family studies to demonstrate Ir genes: HLA haplotype in atopic allergy |journal=Monogr Allergy |volume=11 |issue= |pages=75–9 |year=1977 |pmid=327293 |doi= |url=}}</ref><ref name="pmid453484">{{cite journal |author=MacKie RM, Dick HM |title=A study of HLA antigen distribution in families with atopic dermatitis |journal=Allergy |volume=34 |issue=1 |pages=19–23 |year=1979 |month=February |pmid=453484 |doi= |url=}}</ref><ref name="pmid6611606">{{cite journal |author=Heikkilä M, Koistinen J, Lohman M, Koskimies S |title=Increased frequency of HLA-A1 and -B8 in association with total lack, but not with deficiency of serum IgA |journal=Tissue Antigens |volume=23 |issue=5 |pages=280–3 |year=1984 |month=May |pmid=6611606 |doi= |url=}}</ref> A1,B8 where found more frequently in hay fever complicated by asthma or atopia relative to just hay fever.<ref name="pmid849649">{{cite journal |author=Turner MW, Brostoff TJ, Wells RS, Stokes CR, Soothill JF |title=HLA in eczema and hay fever |journal=Clin. Exp. Immunol. |volume=27 |issue=1 |pages=43–7 |year=1977 |month=January |pmid=849649 |pmc=1540890 |doi= |url=}}</ref><ref name="pmid876128">{{cite journal |author=Jeannet M, Girard JP, Varonier HS, Mirimanoff P, Joye P |title=HLA antigens in grass pollinosis |journal=Monogr Allergy |volume=11 |issue= |pages=69–73 |year=1977 |pmid=876128 |doi= |url=}}</ref><ref name="pmid539526">{{cite journal |author=Oehling A, Baena-Cagnani CE, Sanz ML, Crisci CD |title=HLA and pollinosis |journal=Allergol Immunopathol (Madr) |volume=7 |issue=6 |pages=423–6 |year=1979 |pmid=539526 |doi= |url=}}</ref> Further asthmatic patients with negative skin tests tended toward higher A1,B8 serotypes.<ref name="pmid876121">{{cite journal |author=Morris MJ, Vaughan H, Lane DJ, Morris PJ |title=HLA in asthma |journal=Monogr Allergy |volume=11 |issue= |pages=30–4 |year=1977 |pmid=876121 |doi= |url=}}</ref>

Revision as of 15:08, 23 August 2008

HLA-A1
(MHC Class I, A cell surface antigen)
Rendering of A*0101 with MAGE-1 peptide from 1W72​
HLA-A1 'alpha chain' (Cyan), β2-microglobulin (Rose),
MAGE-1 peptide (yellow).
About
Proteintransmembrane receptor/ligand
Structureαβ heterodimer
SubunitsHLA-A*01--, β2-microglobulin
Older namesHL-A1
Subtypes
Subtype
allele
Available structures
A1
    • 0101
 1W72​
Rare alleles
Subtype
allele
Available structures
A1.2
    • 0102
A1.3
    • 0103

HLA-A1 (A1) is a human leukocyte antigen serotype within HLA-A "A" serotype group. The serotype is determined by the antibody recognition of α1 subset of HLA-A α-chains. The alpha "A" chain are encoded by the HLA-A*01 allele group and the β-chain are encoded by B2M locus.[1] This group currently is dominated by A*0101. A1 and A*01 are almost synonymous in meaning. A1 is more common in Europe than elsewhere, it is part of a long haplotype that appears to have been frequent in the ancient peoples of Northwestern Europe. A1 is a frequent component of the AH8.1 haplotype.

A1 serotype positivity is roughly linked to a large number of inflammatory diseases and conditions believed to have immune system involvement. Because of its linkage within the AH8.1 haplotype many studies showed association with A1 or A1,B8 only later to show the association drift toward the class II region gene alleles, DR3 and DQ2.5. While it is not clear what role A1 has in infectious disease, some linkage with infection rates in HIV remain associated within the A1 region of the haplotype.

Serotype

A1 recognition of some HLA A*01 gene products[2]
A*01 A1 Sample
allele % size (N)
*0101 99 5612
*0102 95 129
*0103 78 9
Alleles link-out to IMGT/HLA database at EBI

In all instances so far, HLA-A1 has been found to be linked to disease by association, but there are few that define HLA-A1 has a predominant genetic risk relative to other gene-alleles in the vicinity of the A1 gene on the larger haplotype.

A1 and autoimmune diseases

A1 serotype was associated with a number of diseases as "HL-A"' antigens were first being described. Among these were coeliac disease, autoimmune active chronic hepatitis, myasthenia gravis, Adrenocortical hyperfunction-Cushing's syndrome, primary biliary cirrhosis.[3][4][5][6][7] However as study sizes increased and D serotypes were described in more detail, the association of these loci moved from the MHC class I loci to the MHC class II loci. Underlying this move was the HLA A1-B8-DR3-DQ2 haplotype, a haplotype that is in acute linkage disequilibrium in the European population.[8][9][10][11][12] This disequilibrium made it appear that A1 and other class I gene-alleles were disease factors, when these alleles were only attached to a long segment of conserved DNA that had disease associated genes on the other end. In at least 2 diseases, the risk of autoimmune disease extends beyond the class II region of the haplotype.

The "HL-A1,8 phenotype" was found to be associated with severe systemic lupus erythematosus (SLE) (renal and central nervous system involvement) in Caucasian patients.[13] Two-point haplotype analysis between TNFB(B*01 allele) and HLA show that the allele is in linkage disequilibrium with HLA-A1, Cw7, B8, C4A(Null), DR3, DQ2.5.[14] While type 1 diabetes shows an extended association on the HLA A1-B8-DR3-DQ2 haplotype, the association appears not to extend beyond the HLA-B locus.[15] A recent study of DR3-DQ2/DR4-DQ8 phenotype found that A1-cw7-B8 was actually lower than expected relative to other A-B types, indicating that risk associated genes are located between B8 and DR3. The type 1 diabetes example shows the inherent difficulty in the use of linkage analysis alone to cipher risk.

In allergic disease A1,B8 were found to associate with allergic reactions in new-borns. [16] A1, B8 was found increased in children with bronchial asthma and low IgA.[17] However, some of this reaction can be attributed to the linkage of the HLA A1-B8-DR3-DQ2 haplotype to the IgA-less phenotype.[18] A firmer association was found with atopies.[19][20][21] A1,B8 where found more frequently in hay fever complicated by asthma or atopia relative to just hay fever.[22][23][24] Further asthmatic patients with negative skin tests tended toward higher A1,B8 serotypes.[25]

Oddly, A1 was also found associated with methotrexate-induced liver cirrhosis.[26]

A1 and infectious disease

Within the early studies of associations it was found A1 associated with or protected against some infectious diseases.[27][28][29] Whereas A1 was found negatively associated with other disease such as coal workers pneumoconiosis and leprosy.[30][31][32]

Rubella

A1 with B8 showed an increase risk of rubella infection,[33] however the association was later not shown to be significant.[34] A more recent paper showed an association of A*0101 with lower than average responses to measles vaccine.[35]

Herpes

A1 was also found to associate with circumoral herpes.[27] An association between A1 and cold sores was also described.[36] Subsequently, the association for herpes simplex was also shown.[37]

Viral hepatitis

An association was seen between viral hepatitis and HLA-A1.[29][38] Though, the association of A1 with autoimmune hepatitis with no anti-viral antibody was stronger than with chronic active hepatitis with anti-viral titer.[39] The association with viral hepatitis was subsequently demonstrated and patients with antinuclear antibodies were more likely to have A1-B8-DR3.[40] Currently studies point to association proximal the the Cw*0702-B*0801 loci.

A1 in Leukemia and Lymphoma

Lymphoma

In Hodgkin's lymphoma HLA-A1[41], but DR3 was not found higher.[42] The A1-B8-DR3-DQ2 haplotype has a known association with Enteropathy-associated T-cell lymphoma, approximately 70% of patients are homozygotes for DQ2 with at least one copy of DR3-DQ2.

HIV

In the mid 1980s the association with A1-B8-DR3 and HIV progression appeared shortly after the discover of the virus.[43] A1-B8 associated with more rapid progression to seropositivity, and was strongly associated with a rapid decline in T4 cells and development of HIV-related symptoms within four years of infection.[44] The strongest associations were seen with A1-Cw7-B8 haplotype. C4 (compliment 4) produces a null allele at on locus C4AQ. This locus in part of the HLA A1-B8-DR3-DQ2 haplotype (markers are A1, CW7, B8, BfS, C4AQ0, C4B1, DR3, DQ2) therefore one study concluded that C4AQ0 could explain the increased infectivity to HIV. [45] The haplotype was further linked to false-tumor splenomegaly, CD8 lymphocytosis, and high IgG.[46]

A*01 Alleles

A*0101

A*0101 appears to alter risk for type 1 diabetes.[47] Because A*0101 is linked to DR3-DQ2.5 (see below), and because this class II haplotype has a bearing on diabetes risk (2nd most potent risk factor) some of this risk could be due to linkage with DR3.

A1-B haplotypes

A1-B58 (A1-B17 where B58 is dominant) is associated with antineutrophil cytoplasmic antibodies (ANCA)[48]

A-B Haplotypes

HLA A1-B8 haplotype frequencies
[49] Ireland 14.4 1
[50] Northern Ireland 11.5 1 1
[51] Swedish 11.5 1
[52] Dutch Netherlands 9.8
[51] Yugoslavian 9.7 1
[51] British 9.7 1
[51] Hungarian 9.4 1
[53] CEPH France 8.5 1 1
[51] Czech 7.8 1
[54] Swiss 6.7 3
[51] Austria 4.5 2
[51] Italy 4.2 1
[51] Basque 4.2
[51] Polish 4.0
[55] Uganda 3.7 1
[51] Spanish 2.8 4
[1] Romania 2.8
[51] Greek 2.3
[51] Luo Kenya 1.7 2
[51] Nandi Kenya 1.4 2
[56] Oman Arabia 1.4
[51] Japanese 0.1
1Cw*0701 (Eur.), ²Cw*0704 (Afr.)
  • A1-B7 Armenia, Austria, NW Europe (regional recombinant between A1-B8 and A2/A3-B7)
  • A1-B13 Uralic
  • A1-B35 (Albania, Belgium, Italy, Greece, France - Eastern mediterranian in origin)
  • A1-B37 Yakuts, Tribal-India, Iyers-India, Mongolian, Indian, Orochon, Romanian, Yugoslavia, Korean, Albania, French, German, Manchu
  • A1-B51 Yugoslavia, Germany, Iberia, Italy
  • A1-B52 Bharghavas-India, Tribal-India, Italy, Iberia, France
  • A1-B57 (See tables on discussion page)
  • A1-B58 (See tables on discussion page)

A1-Cw7-B8

A1-Cw7-B8 is the multi-serotype designation for the haplotype HLA-A*0101:C*0701:B*0801, the class I portion, of the HLA A1-B8-DR3-DQ2. The rightmost column in the table on the right shows the rank of A1-B8 in A-B haplotypes, it is the most common top ranked haplotype in Western Europe, in fact it is one of the more common A-B haplotypes in the world.

References

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