Distribution of HLA Class I and Class II alleles and haplotypes in German and Uzbek minorities in Kazakhstan, and relationship to other populations

HLA profiles of German and Uzbek minorities in Kazakhstan were analyzed and were compared with other populations. In total, 107 and 119 HLA alleles were identified in Germans and Uzbeks, respectively. A*02:01 (25.49%), B*07:02 (9.80%), B*08:01 (9.80%), C*07:02 (13.46%), DRB1*07:01 (21.57%), and DQB1*03:01 (25%) were frequent among Germans, while A*02:01 (17.86%), B*07:02 (8.33%), C*04:01 (15%), DRB1*07:01 (13.09%), and DQB1*03:01 (20%) were common alleles in Uzbeks. A*03:01 ~ B*07:02 ~ C*07:02 ~ DRB1*15:01 ~ DQB1*06:02 (6%) and A*24:02 ~ B*38:01 ~ C*12:03 ~ DRB1*14:01 ~ DQB1*05:03 (3.75%) were the most frequent five‐locus haplotypes in Germans and Uzbeks, respectively. Germans of Kazakhstan are genetically related to European Russians, Germans and Eastern Europeans, suggesting their European Russia (Volga Region) origin following their 19th century migration to central Asia. Uzbeks, likely indigenous, were genetically close to Eastern Russians, Europeans, and Asians.