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Thread: HLA-DR1: distribution map, subtypes, SNPs and associated medical conditions

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    Post HLA-DR1: distribution map, subtypes, SNPs and associated medical conditions

    Here is a map showing the allele frequency of HLA-DR1. The maximum frequencies are observed in the Volga-Ural region, among the Mari (24%), Chuvash (18.5%), Kostroma Russians (17.5%) and South Ural Russians (16%).

    Subtypes

    There are three main subclades of DR1:

    - DRB1*01:01 : the vast majority of Europeans belong to this subclade. It is virtually the only type encountered in northern and eastern Europe. Its presence in India and Iran is a sign that it was found among the Indo-Europeans.

    - DRB1*01:02 : is found chiefly in Africa (Ethiopia, Maghreb, Rwanda, Zimbabwe, Equatorial Guinea, etc.) and the Levant, but also in Portugal (10% in Madeira, 5% in Azores, 3% in South Portugal), Spain (5-6% in Andalusia, 3% in Catalonia, 2.5% in Basque country and Cantabria), Greece (2%), parts of Italy and southern France (1%), and on the Croatian island of Krk (5%). It was probably spread by Y-haplogroup E1b1b.

    - DRB1*01:03 : a rarer type found at low frequencies (1-3%) in in Western Europe, Tunisia, Iran and India.





    Medical associations

    HLA-DR1 is associated rheumatoid arthritis, penicillamine-induced myasthenia, and schizophrenia.

    DRB1*0103 is associated with colonic Crohn's disease and ulcerative colitis.


    SNP's

    You can verify if you carry HLA-DR1 by checking your raw data from 23andMe, Geno 2.0 or FamilyFinder.

    - DRB1*01:01 : rs4947332 (T means DR1) or rs6457614 (G means DR1).

    You normally need to be positive for both alleles.

    I don't know the SNP's for DRB1*01:02 and DRB1*01:03.

    I have checked these SNP's in over 20 Palaeolithic to Bronze Age genomes from Haak et al. 2015 and other papers. Rs4947332 was not positive in any sample that tested for this SNP.

    Rs6457614 was positive in:

    - Palaeolithic Kostenki from southern Russia (homozygous TT)
    - Neolithic LBK Stuttgart

    So it seems that no sample were positive for DR1, although at least one of the two mutations may have originated in Palaeolithic Russia, which would make sense considering the modern distribution.
    Last edited by Maciamo; 24-01-16 at 22:18.
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