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伊朗乳糜泻患者中HLA-DQ的等位基因和单倍型频率

Allele and haplotype frequencies for HLA-DQ in Iranian celiac disease patients.

作者信息

Rostami-Nejad Mohammad, Romanos Jihane, Rostami Kamran, Ganji Azita, Ehsani-Ardakani Mohammad Javad, Bakhshipour Ali-Reza, Zojaji Homayoun, Mohebbi Seyed Reza, Zali Mohammad-Reza, Wijmenga Cisca

机构信息

Mohammad Rostami-Nejad, Mohammad Javad Ehsani-Ardakani, Homayoun Zojaji, Seyed Reza Mohebbi, Mohammad-Reza Zali, Department of Celiac Disease, Gastroenterology and Liver Diseases Research Centers, Shahid Beheshti University of Medical Sciences, Tehran 1985717411, Iran.

出版信息

World J Gastroenterol. 2014 May 28;20(20):6302-8. doi: 10.3748/wjg.v20.i20.6302.

Abstract

AIM

To assess the distribution of human leukocyte antigen (HLA)-DQ2 and -DQ8 in Iranian celiac disease (CD) patients and compare them to healthy Iranian controls.

METHODS

To predict the HLA-DQA1 and -DQB1 genes, we used six previously reported HLA-tagging single nucleotide polymorphism to determine HLA genotypes in 59 Iranian patients with 'biopsy-confirmed' CD and in 151 healthy Iranian individuals. To test the transferability of the method, 50 cases and controls were also typed using a commercial kit that identifies individual carriers of DQ2, DQ7 and DQ8 alleles.

RESULTS

In this pilot study 97% of CD cases (n = 57) and 58% of controls (n = 87) were carriers of HLA-DQ2 and/or HLA-DQ8 heterodimers, either in the homozygous or heterozygous state. The HLA-DQ pattern of these 57 CD patients: heterozygous DQ2.2 (n = 14) and homozygous DQ2.2 (n = 1), heterozygous DQ2.5 (n = 33) and homozygous DQ2.5 (n = 8), heterozygous DQ8 (n = 13) and homozygous DQ8 (n = 2). Two CD patients were negative for both DQ2 and DQ8 (3%).

CONCLUSION

The prevalence of DQ8 in our CD population was higher than that reported in other populations (25.4%). As reported in other populations, our results underline the primary importance of HLA-DQ alleles in the Iranian population's susceptibility to CD.

摘要

目的

评估人类白细胞抗原(HLA)-DQ2和-DQ8在伊朗乳糜泻(CD)患者中的分布情况,并与伊朗健康对照者进行比较。

方法

为预测HLA-DQA1和-DQB1基因,我们使用6个先前报道的HLA标签单核苷酸多态性来确定59例经活检确诊的伊朗CD患者和151名伊朗健康个体的HLA基因型。为测试该方法的可转移性,还使用了一种商业试剂盒对50例病例和对照进行分型,该试剂盒可识别DQ2、DQ7和DQ8等位基因的个体携带者。

结果

在这项初步研究中,97%的CD病例(n = 57)和58%的对照者(n = 87)是HLA-DQ2和/或HLA-DQ8异二聚体的携带者,呈纯合或杂合状态。这57例CD患者的HLA-DQ模式为:杂合DQ2.2(n = 14)和纯合DQ2.2(n = 1),杂合DQ2.5(n = 33)和纯合DQ2.5(n = 8),杂合DQ8(n = 13)和纯合DQ8(n = 2)。两名CD患者DQ2和DQ8均为阴性(3%)。

结论

我们的CD人群中DQ8的患病率高于其他人群报道的患病率(25.4%)。正如其他人群所报道的那样,我们的结果强调了HLA-DQ等位基因在伊朗人群对CD易感性中的首要重要性。

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