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    Satyavrata Maciamo's Avatar
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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.


    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.


    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.


    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.


    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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