HLA-B48

Last updated November 08, 2023




major histocompatibility complex (human), class I, B48
Alleles	B4801 B4802 B*4803
Structure (See HLA-B)
Symbol(s)	HLA-B
EBI-HLA	B*4801
EBI-HLA	B*4802
EBI-HLA	B*4803
Locus	chr.6 6p21.31

HLA-B48 (B48) is an HLA-B serotype. The serotype identifies the more common HLA-B*48 gene products.^[1] B48 is most common along the West Pacific Rim, Americas indigenous peoples and Northern Eurasians. B*4801 is part of a group of alleles including B*4201 that share Intron 1 sequence with B*0702,^[2] which is common over Western and Central Asia, and has a distribution indicating an early and long presence in Eurasian humans. A*48 appears to be the result of a recombination event that occurred early in the settlement history of Central Asia that then spread eastward into the NW Pacific rim and the New World. (For terminology help see: HLA-serotype tutorial)

Serotype

B48 serotype recognition of Some HLA B*48 allele-group gene products^[3]
B*48	B48	Other	Sample
allele	%	%	size (N)
4801	78	10	610
4802	3	60	39
4803	66	13	32

Alleles

**HLA B*4801 frequencies**
		freq
ref.	Population	(%)
^[4]	Ami (Taiwan)	26.0
^[4]	Lama (Lamas, Peru)	24.7
^[4]	Chiriguanos (Argentina)	21.7
^[4]	Truku (Taiwan)	19.1
^[4]	Atayal (Taiwan)	17.0
^[4]	Pima (Arizona, USA)	16.9
^[4]	Nenets (Russia)	15.7
^[4]	Yup'ik (Alaska, USA)	14.7
^[4]	Toba Rosario (Argentina)	13.4
^[4]	Puyuma (Taiwan)	12.0
^[4]	Nivkh (Sakhalin, Russia)	11.3
^[4]	Samoans (Samoa)	10.0
^[4]	Canoncito Navajo (New Mexico, USA)	9.8
^[4]	Tarahumara (Chihuahua, Mexico)	9.1
^[4]	Ivatan (Philippines)	8.0
^[4]	Ainu (Hokkaido, Japan)	7.0
^[4]	Rukai (Taiwan)	7.0
^[4]	Manchu (Harbin, China)	5.8
^[4]	Northern Han (China)	5.7
^[4]	Khalka (Mongolia)	5.7
^[4]	Pazeh (Taiwan)	5.5
^[4]	Beijing (China)	5.3
^[4]	Inner Mongolia (China)	4.9
^[4]	Siraya (Taiwan)	4.9
^[4]	Tuvans (Russia)	4.7
^[4]	N. Korean (Harbin, China)	4.5
^[4]	Maya (Mexico)	4.5
^[4]	Zapotec (Oaxaca, Mexico)	4.5
^[4]	Japan (5)	4.3
^[4]	Tibet (China)	4.1
^[4]	Tao (Taiwan)	4.0
^[4]	Dzungar (Mongolia)	3.9
^[4]	South Korea (3)	3.4
^[4]	Linqu County (Shandong, China)	3.3
^[4]	Seri (Sonora, Mexico)	3.0
^[4]	Wanigela (Papua New Guinea)	2.3
^[4]	Lakota Sioux (South Dakota, USA)	2.2
^[4]	Madang (Madang, Papua New Guinea)	1.8
^[4]	Kurds (Georgia Tbilisi)	1.7
^[4]	Southern Han (China)	1.6
^[4]	Rabaul (N. Britain, PNG)	1.3
^[4]	Thailand	1.1
^[4]	North Hindus (India)	1.0
^[4]	Saomi (Murmansk, Russia)	1.0
^[4]	Sindhi (Pakistan)	0.5

Haplotypes

There is a known haplotype that covers a distance from South America to Siberia

A*2402 : C*08 : B*4801 : DRB1*08 : DQA1*0401 : DQB1*0402

and maybe indicative of recent long range migration. This haplotype is found in Peru, Mexico, Eskimos. The A*2402 : C*0801 : B*4801 sub-component is also found in Asian Americans, Hispanic Americans, Indigenous Taiwanese, Northern Philippines, Japanese, Orochon, Tibetans. The A-Cw-B component of the haplotype appears to have been conserved, however, equilibration of linkage to DR-DQ is more evident in Asian and Native American populations. The Cw*0803 allelic variant of this haplotype is found in Japan, Eskimos, Asian Americans, Hispanic Americans and Oaxacans. The oddity of the distribution is that, other than the Manchu of Northern China, the Chinese population is devoid of the major A24-B48 and A2-B48 haplotypes. This indicates gene-flow along the West Pacific Rim to the New World and across Siberia connecting Tibet and Japan. B48 is found higher in the Ainu and Nivkhi than Japanese.

Another haplotype that shows long distance relationships is the A*0206 : C*0801 : B*4801 This haplotype is seen in the Taiwan aboriginal population, Okinawan, Japanese, Asian Americans, Orochon, Korean and Hispanic American populations. This haplotype might be extended with DRB1*0407 : DQA1*0301 : DQB1*0302

The Cw8-B48-DRB1*0407-DQB1*0302 is found in the Peru Llamas and Japanese populations. However levels in Japan, given the declining gradient to the south, indicate these haplotypes are the result of admixing with Northern Jomon populations during the post-Jomon period.

The B*48 haplotypes indicate that the Sea of Japan region was a probable hot spot for both migration to the South and also to the New World.

The Orochon, which have the highest level of A*24-B*48 live along the Amur river in NE China and share many similarities with the Ainu of Hokkaido and the Nivkhi of Northern Sakalin Island. HLA B*48 haplotypes indicate a means of passage to the New World along the Siberian Coast, a possible land route of passage through Beringia or later by boat across the bering strait into the New World.

Related Research Articles

The human leukocyte antigen (HLA) system or complex is a complex of genes on chromosome 6 in humans which encode cell-surface proteins responsible for regulation of the immune system. The HLA system is also known as the human version of the major histocompatibility complex (MHC) found in many animals.

HLA DR3-DQ2 is double serotype that specifically recognizes cells from individuals who carry a multigene HLA DR, DQ haplotype. Certain HLA DR and DQ genes have known involvement in autoimmune diseases. DR3-DQ2, a multigene haplotype, stands out in prominence because it is a factor in several prominent diseases, namely coeliac disease and juvenile diabetes. In coeliac disease, the DR3-DQ2 haplotype is associated with highest risk for disease in first degree relatives, highest risk is conferred by DQA1*0501:DQB1*0201 homozygotes and semihomozygotes of DQ2, and represents the overwhelming majority of risk. HLA DR3-DQ2 encodes DQ2.5cis isoform of HLA-DQ, this isoform is described frequently as 'the DQ2 isoform', but in actuality there are two major DQ2 isoform. The DQ2.5 isoform, however, is many times more frequently associated with autoimmune disease, and as a result to contribution of DQ2.2 is often ignored.

<span class="mw-page-title-main">HLA-DQ8</span>

HLA-DQ8 (DQ8) is a human leukocyte antigen serotype within the HLA-DQ (DQ) serotype group. DQ8 is a split antigen of the DQ3 broad antigen. DQ8 is determined by the antibody recognition of β⁸ and this generally detects the gene product of DQB1*0302.

<span class="mw-page-title-main">HLA-DQ2</span>

HLA-DQ2 (DQ2) is a serotype group within HLA-DQ (DQ) serotyping system. The serotype is determined by the antibody recognition of β² subset of DQ β-chains. The β-chain of DQ is encoded by HLA-DQB1 locus and DQ2 are encoded by the HLA-DQB1*02 allele group. This group currently contains two common alleles, DQB1*0201 and DQB1*0202. HLA-DQ2 and HLA-DQB1*02 are almost synonymous in meaning. DQ2 β-chains combine with α-chains, encoded by genetically linked HLA-DQA1 alleles, to form the cis-haplotype isoforms. These isoforms, nicknamed DQ2.2 and DQ2.5, are also encoded by the DQA1*0201 and DQA1*0501 genes, respectively.

<span class="mw-page-title-main">HLA-DQ4</span>

HLA-DQ4 (DQ4) is a serotype subgroup within HLA-DQ(DQ) serotypes. The serotype is determined by the antibody recognition of β⁴ subset of DQ β-chains. The β-chain of DQ is encoded by HLA-DQB1 locus and DQ4 are encoded by the HLA-DQB1*04 allele group. This group currently contains 2 common alleles, DQB1*0401 and DQB1*0402. HLA-DQ4 and HLA-DQB1*04 are almost synonymous in meaning. DQ4 β-chains combine with α-chains, encoded by genetically linked HLA-DQA1 alleles, to form the cis-haplotype isoforms. These isoforms, nicknamed DQ4.3 and DQ4.4, are also encoded by the DQA1*0303 and DQA1*0401 genes, respectively.

<span class="mw-page-title-main">HLA-DQ6</span>

HLA-DQ6 (DQ6) is a human leukocyte antigen serotype within HLA-DQ (DQ) serotype group. The serotype is determined by the antibody recognition of β⁶ subset of DQ β-chains. The β-chain of DQ isoforms are encoded by HLA-DQB1 locus and DQ6 are encoded by the HLA-DQB1*06 allele group. This group currently contains many common alleles, DQB1*0602 is the most common. HLA-DQ6 and DQB1*06 are almost synonymous in meaning. DQ6 β-chains combine with α-chains, encoded by genetically linked HLA-DQA1 alleles, to form the cis-haplotype isoforms. For DQ6, however, cis-isoform pairing only occurs with DQ1 α-chains. There are many haplotypes of DQ6.

<span class="mw-page-title-main">HLA-DQ7</span>

HLA-DQ7 (DQ7) is an HLA-DQ serotype that recognizes the common HLA DQB1*0301 and the less common HLA DQB1*0304 gene products. DQ7 is a form of 'split antigen' of the broad antigen group DQ3 which also contains DQ8 and DQ9.

<span class="mw-page-title-main">HLA-DQ1</span> Serotype that covers a broad range of HLA-DQ haplotypes.

HLA-DQ1 is a serotype that covers a broad range of HLA-DQ haplotypes. Historically it was identified as a DR-like alpha chain called DC1; later, it was among 3 types DQw1, DQw2 and DQw3. Of these three serotyping specificities only DQw1 recognized DQ alpha chain. The serotype is positive in individuals who bear the DQA1*01 alleles. The most frequently found within this group are: DQA1*0101, *0102, *0103, and *0104. In the illustration on the right, DQ1 serotyping antibodies recognizes the DQ α (magenta), where antibodies to DQA1* gene products bind variable regions close to the peptide binding pocket.

<span class="mw-page-title-main">HLA-DR17</span>

HLA-DR17 (DR17) is an HLA-DR serotype that recognizes the DRB1*0301 and *0304 gene products. DR17 is found at high frequency in Western Europe. DR17 is part of the broader antigen group HLA-DR3 and is very similar to the group HLA-DR18.

<span class="mw-page-title-main">HLA-DR16</span>

HLA-DR16(DR16) is a HLA-DR serotype that recognizes the DRB1*1601, *1602 and *1604 gene products. DR16 is found in the Mediterranean at modest frequencies. DR16 is part of the older HLA-DR2 serotype group which also contains the similar HLA-DR15 antigens.

<span class="mw-page-title-main">HLA-DR15</span>

HLA-DR15 (DR15) is a HLA-DR serotype that recognizes the DRB1*1501 to *1505 and *1507 gene products. DR15 is found at high levels from Ireland to Central Asia. DR15 is part of the older HLA-DR2 serotype group which also contains the similar HLA-DR16 antigens.

<span class="mw-page-title-main">HLA-DR11</span>

HLA-DR11 (DR11) is a HLA-DR serotype that recognizes the DRB1*1101 to *1110. DR11 serotype is a split antigen of the older HLA-DR5 serotype group which also contains the similar HLA-DR12 antigens.

<span class="mw-page-title-main">HLA-DR12</span>

HLA-DR12(DR12) is a HLA-DR serotype that recognizes the DRB1*1201 to *1203, *1206. DR12 serotype is a split antigen of the older HLA-DR5 serotype group which also contains the similar HLA-DR11 antigens.

<span class="mw-page-title-main">HLA-DR7</span>

HLA-DR7 (DR7) is a HLA-DR serotype that recognizes the DRB1*0701 to *0705 gene products.

<span class="mw-page-title-main">HLA-DR3</span>

HLA-DR3 is composed of the HLA-DR17 and HLA-DR18 split 'antigens' serotypes. DR3 is a component gene-allele of the AH8.1 haplotype in Northern and Western Europeans. Genes between B8 and DR3 on this haplotype are frequently associated with autoimmune disease. Type 1 diabetes mellitus is associated with HLA-DR3 or HLA-DR4. Nearly half the US population has either DR3 or DR4, yet only a small percentage of these individuals will develop type 1 diabetes.

HLA-A33 (A33) is a human leukocyte antigen serotype within HLA-A serotype group. The serotype is determined by the antibody recognition of α³³ subset of HLA-A α-chains. For A33, the alpha "A" chain are encoded by the HLA-A*33 allele group and the β-chain are encoded by B2M locus. A33 and A*33 are almost synonymous in meaning. A33 is a split antigen of the broad antigen serotype A19. A33 is a sister serotype of A29, A30, A31, A32, and A74.

HLA-B46 (B46) is an HLA-B serotype. The serotype identifies the gene products of HLA-B*4601 allele. B*4601 resulted from a rare, interlocus, gene conversion between B62, probably B*1501, and a HLA-C allele. B*4601 is the most common HLA-B allele that does not have an origin within Africa, and estimated 400 million people in Eastern Asia carry a B46 allele. When found B*4601 segregates with only 2 HLA-Cw alleles, A limited number of HLA-A and HLA-DRB1 alleles suggesting that the allele recently expanded from a limited sized group within SE Asia. Extremely low frequencies outside of Eastern Asia are indicators of a recent expansion of B46 from a recently small population. The frequency distribution suggests the ancestral B46 population was in SE China, or, potentially Burma. B46 in Asia correlates with wet-rice farming. The exceptions are notable, it has been found in the Nivkhi on north-eastern Sakalin Island, the Ainu, and the Nivkhi-related (genetically) Tlinglet population of Alaska at trace levels.

<span class="mw-page-title-main">HLA-B7</span>

HLA-B7 (B7) is an HLA-B serotype. The serotype identifies the more common HLA-B*07 gene products. B7, previously HL-A7, was one of the first 'HL-A' antigens recognized, largely because of the frequency of B*0702 in Northern and Western Europe and the United States. B7 is found in two major haplotypes in Europe, where it reaches peak frequency in Ireland. One haplotype A3-B7-DR15-DQ1 can be found over a vast region and is in apparent selective disequilibrium. B7 is a risk factor for cervical cancer, sarcoidosis, and early-onset spondylarthropathies.

<span class="mw-page-title-main">HLA-B45</span>

HLA-B45 (B45) is an HLA-B serotype. The serotype identifies the B*45 gene-allele protein products of HLA-B.

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. Chromosomal recombination fragments multigene haplotypes as the distance to that ancestor increases in number of generations.

References

↑ Marsh, S. G.; Albert, E. D.; Bodmer, W. F.; Bontrop, R. E.; Dupont, B.; Erlich, H. A.; Fernández-Viña, M.; Geraghty, D. E.; Holdsworth, R.; Hurley, C. K.; Lau, M.; Lee, K. W.; Mach, B.; Maiers, M.; Mayr, W. R.; Müller, C. R.; Parham, P.; Petersdorf, E. W.; Sasazuki, T.; Strominger, J. L.; Svejgaard, A.; Terasaki, P. I.; Tiercy, J. M.; Trowsdale, J. (2010). "Nomenclature for factors of the HLA system, 2010". Tissue Antigens. 75 (4): 291–455. doi:10.1111/j.1399-0039.2010.01466.x. PMC 2848993 . PMID 20356336.
↑ Gomez-Casado E, Vargas-Alarcón G, Martinez-Laso J, et al. (1999). "Evolutionary relationships between HLA-B alleles as indicated by an analysis of intron sequences". Tissue Antigens. 53 (2): 153–60. doi:10.1034/j.1399-0039.1999.530205.x. PMID 10090615.
↑ derived from IMGT/HLA
1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23 24 25 26 27 28 29 30 31 32 33 34 35 36 37 38 39 40 41 42 43 44 45 Middleton D, Menchaca L, Rood H, Komerofsky R (2003). "New allele frequency database: http://www.allelefrequencies.net". Tissue Antigens. 61 (5): 403–7. doi: 10.1034/j.1399-0039.2003.00062.x . PMID 12753660.{{cite journal}}: External link in |title= (help)

This page is based on this Wikipedia article
Text is available under the CC BY-SA 4.0 license; additional terms may apply.
Images, videos and audio are available under their respective licenses.

[pmid15787720-1] Marsh, S. G.; Albert, E. D.; Bodmer, W. F.; Bontrop, R. E.; Dupont, B.; Erlich, H. A.; Fernández-Viña, M.; Geraghty, D. E.; Holdsworth, R.; Hurley, C. K.; Lau, M.; Lee, K. W.; Mach, B.; Maiers, M.; Mayr, W. R.; Müller, C. R.; Parham, P.; Petersdorf, E. W.; Sasazuki, T.; Strominger, J. L.; Svejgaard, A.; Terasaki, P. I.; Tiercy, J. M.; Trowsdale, J. (2010). "Nomenclature for factors of the HLA system, 2010". Tissue Antigens. 75 (4): 291–455. doi:10.1111/j.1399-0039.2010.01466.x. PMC 2848993 . PMID 20356336.

[pmid10090615-2] Gomez-Casado E, Vargas-Alarcón G, Martinez-Laso J, et al. (1999). "Evolutionary relationships between HLA-B alleles as indicated by an analysis of intron sequences". Tissue Antigens. 53 (2): 153–60. doi:10.1034/j.1399-0039.1999.530205.x. PMID 10090615.

[3] rived from IMGT/HLA

[pmid12753660-4] 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23 24 25 26 27 28 29 30 31 32 33 34 35 36 37 38 39 40 41 42 43 44 45 Middleton D, Menchaca L, Rood H, Komerofsky R (2003). "New allele frequency database: http://www.allelefrequencies.net". Tissue Antigens. 61 (5): 403–7. doi: 10.1034/j.1399-0039.2003.00062.x . PMID 12753660.{{cite journal}}: External link in |title= (help)

[1]

[2]

[3]

[4]