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Thread: HLA-DR11 : distribution map, subtypes frequencies and associated medical conditions

  1. #1
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    Post HLA-DR11 : distribution map, subtypes frequencies and associated medical conditions

    I have made a map showing the allele frequency of HLA-DRB1*11, aka HLA-DR11. It clearly seems to have a West Asian origin, and probably spread alongside Y-DNA haplogroup J2 considering the high frequencies of both in Iran, Armenia, Turkey, Greece, Albania and Italy. The Saudis and North Africans have considerably less DRB11, and also less Y-DNA J2. In North Africa, the Tunisians have the highest frequency of both J2 and DR11.




    Medical associations

    HLA-DR11 is associated with rheumatoid arthritis, grape anaphylaxis, well-differentiated thyroid cancer, low antibody production in Hepatitis C, systemic sclerosis (SSc) & anti-DNA topoisomerase I (anti-topo I) antibody.

    This HLA type is associated with a lower risk of juvenile diabetes, which is typically caused by a diet rich in wheat.


    SNP's

    You can check your 23andMe, Geno 2.0 or FamilyFinder results to know if your carry any of the DR11 alleles. SNP's for HLA types are usually proxy and may not be 100% accurate. You normally need to be positive for all alleles defining your subtype. The positive allele is indicated in brackets/parentheses. However you may be positive for more than one subtype by genotype, even though you only have one serotype.


    DRB1*11:01 : rs434841 (A) and rs5875439 (I) => peaks in Melanesia (33% to 56%), then in Iran (22% in Persians), Georgia (17%), Ukraine (18.5%), Belarus (15.5%), central-northern Italy (20.5% in Tuscany, 17% in Liguria, 16% in Lombardy), the Nganasans of Siberia (16.5%), Mongolia (13.5%), northern India (12%), and the northern Saami (11.5%). Probably associated with Y-DNA haplogroup K and its descendants, notably N, O, R and S.



    DRB1*11:02 => only found in Africa

    DRB1*11:03 : rs4639334 (A) and rs210180 (A) => peaks among the Kurds (20.5%) and Azeri (18.5%), then among the Uyghurs (5.5%), and in north-central Italy (4% in Bergamo, 3% in Rome).

    DRB1*11:04 : rs4713607 (G) and rs12664430 (T) => peaks in the Levant (17% in Lebanon), the southern Balkans (17% in Greece, 16% in Macedonia, 15.5% in Bulgaria) and southern to central Italy (17% in Rome). In over 50 ancient genomes from Palaeolithic to Bronze Age Europe, it was only found in one Neolithic farmer from Germany. Its high frequency in Lebanon suggests that it could have originated in the Levant during the Early Neolithic. Later it would have become associated with the ancient Phoenicians (note the slightly higher frequency in Tunisia, Algeria and Mediterranean Spain), Greeks, and to a lower extent also Romans. The modern frequency corresponds fairly well to the distributions of Neolithic Y-DNA haplogroups like G2a2 and T1a.




    Link to prehistoric populations

    I have checked these SNP's some 50 ancient European genomes from the Paleolithic to the Bronze Age. Not all SNPs were tested.

    DRB1*11:01

    Rs434841 was positive in :

    - Neolithic Alberstedt (I0118)
    - one Yamna sample (I0231)
    - one Corded Ware sample (I0130) (homozygous)

    However none of them were positive for rs5875439, so not a single sample is DR11:01.

    DRB1*11:03

    Rs210180 was positive in:

    - the Denisova genome (homozygous AA)
    - one sample from Neolithic Hungary (NE1)
    - one sample from Bronze Age Hungary (BR2)

    Very oddly, rs4639334 wasn't tested in any of the genomes, not even in the very high resolution genomes like La Brana, Loschbour and Stuttgart. So it can't be determined for sure if any of the above sample is DR11:03.

    DRB1*11:04

    Rs4713607 was positive in:

    - the 35,000 year-old Kostenki genome from southern Russia
    - one LBK sample (Stuttgart)
    - one Bell Beaker sample
    - one Unetice sample
    - one Yamna sample

    All were homozygous (GG) except for Stuttgart. This is interesting as it means that Proto-Indo-Europeans shared this homozygous derived allele with Palaeolithic southern Russians. Yet today there is hardly anyone who is DRB1*11:04 is Russia or Ukraine.

    This could be because among all the above samples only the Neolithic Stuttgart sample was positive for Rs12664430, and so was DRB1*11:04. It takes both alleles to carry this antigen. Nowadays this HLA type is more common in Greece, Macedonia and southern Italy than elsewhere in Europe, which indeed correspond to regions with higher Early European Farmer ancestry.
    Last edited by Maciamo; 26-01-16 at 10:52.
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  2. #2
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    Quote Originally Posted by Maciamo View Post
    NB: I have added maps and updated the descriptions above fro DR11:01 and DR11:04.
    hi

    in regards to DR11:01 for rs434841.......I have AG ......my father and son on v4 23andme are not genotyped

    in rs1061172 I and my my father are not genotyped but my son is GG

    in rs5875439 my son has DI and both my father and I have DD

    what does all this mean?

    in regards to this

    HLA-DRB*1104 rs4713607 (G)

    son and I are AA
    father is AG
    rs12664430

    all 3 of us are CC
    Last edited by Maciamo; 26-01-16 at 09:26.
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  3. #3
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    Quote Originally Posted by Sile View Post
    hi

    in regards to DR11:01 for rs434841.......I have AG ......my father and son on v4 23andme are not genotyped

    in rs1061172 I and my my father are not genotyped but my son is GG

    in rs5875439 my son has DI and both my father and I have DD

    what does all this mean?
    You need to have at least one copy of all mutations to be DR11:01. So none of you are.

    in regards to this

    HLA-DRB*1104 rs4713607 (G)

    son and I are AA
    father is AG
    rs12664430

    all 3 of us are CC
    Same here. None of you are T at rs12664430.

  4. #4
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    Y-DNA haplogroup
    T1a2 -Z19945..Jura
    MtDNA haplogroup
    H95a1 ..Pannoni

    Ethnic group
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    Country: Australia



    DRB1*11:03 : s4639334 (A) and rs210180 (A) => peaks among the Kurds (20.5%) and Azeri (18.5%), then among the Uyghurs (5.5%), and in north-central Italy (4% in Bergamo, 3% in Rome).


    rs210180 A or T AA
    Andrew



    AA
    Lucien



    AT
    victor


    other rs 4639334 was not read by 23andme either for v3 or v4

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