Most patients with celiac disease are positive for either HLA‐DQA1*05:01‐DQB1*02 (DQ2.5) or DQA1*03:01‐DQB1*03:02 (DQ8). Remaining few patients are usually DQA1*02:01‐DQB1*02 (DQ2.2) carriers. Screenings of populations with high frequencies of these HLA‐DQA1‐DQB1 haplotypes report a 1% to 3% celiac disease prevalence. The aim was to determine the prevalence of HLA‐DQ risk haplotypes for celiac disease in Ethiopian children. Dried blood spots collected from 1193 children from the Oromia regional state of Ethiopia were genotyped for HLA‐DQA1 and DQB1 genotyping using an asymmetric polymerase chain reaction (PCR) and a subsequent hybridization of allele‐specific probes. As references, 2000 previously HLA‐genotyped children randomly selected from the general population in Sweden were included. DQ2.2 was the most common haplotype and found in 15.3% of Ethiopian children, which was higher compared with 6.7% of Swedish references (P < .0001). Opposed to this finding, DQ2.5 and DQ8 occurred in 9.7% and 6.8% of Ethiopian children, which were less frequent compared with 12.8% and 13.1% of Swedish references, respectively (P < .0001). The DQ2.5‐trans genotype encoded by DQA1*05‐DQB1*03:01 in combination with DQ2.2 occurred in 3.6% of Ethiopian children, which was higher compared with 1.3% of Swedish references (P < .0001). However, when children with moderate high to very high‐risk HLA genotypes were grouped together, there was no difference between Ethiopian children and Swedish references (27.4% vs 29.0%) (P = .3504). The frequency of HLA risk haplotypes for celiac disease is very similar in Ethiopian and Swedish children. This finding of importance will be useful in future screening of children for celiac disease in Ethiopia.

中文翻译：

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埃塞俄比亚儿童腹腔疾病的HLA-DQ风险基因型分布

大多数腹腔疾病患者的HLA-DQA1 * 05：01-DQB1 * 02（DQ2.5）或DQA1 * 03：01-DQB1 * 03：02（DQ8）呈阳性。其余患者通常为DQA1 * 02：01-DQB1 * 02（DQ2.2）运营商。对这些HLA-DQA1-DQB1单倍型的高频率人群进行的筛查显示，乳糜泻的患病率为1％至3％。目的是确定埃塞俄比亚儿童腹腔疾病的HLA-DQ风险单倍型患病率。使用非对称聚合酶链反应（PCR）和随后的等位基因特异性探针杂交对从埃塞俄比亚奥罗米亚州州的1193名儿童收集的干血斑进行HLA-DQA1和DQB1基因分型。作为参考，纳入了2000例以前从瑞典总人口中随机选择的HLA基因型儿童。DQ2.2是最常见的单倍型，在15.3％的埃塞俄比亚儿童中发现，高于瑞典参考文献的6.7％（P<.0001）。与这一发现相反，埃塞俄比亚儿童的DQ2.5和DQ8发生率分别为9.7％和6.8％，与瑞典参考文献的12.8％和13.1％相比，发生频率较低（P <.0001）。由DQA1 * 05-DQB1 * 03：01结合DQ2.2编码的DQ2.5-反基因型发生在3.6％的埃塞俄比亚儿童中，高于瑞典参考文献的1.3％（P <.0001）。但是，将中度高危至高危HLA基因型的儿童归为一组时，埃塞俄比亚儿童与瑞典参考人之间没有差异（27.4％比29.0％）（P= .3504）。在埃塞俄比亚和瑞典儿童中，腹腔疾病的HLA危险单倍型的频率非常相似。这一重要性的发现对于将来在埃塞俄比亚筛查儿童的乳糜泻很有用。