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马其顿的HLA - DR - DQ单倍型与1型糖尿病

HLA-DR-DQ haplotypes and type 1 diabetes in Macedonia.

作者信息

Ilonen Jorma, Kocova Mirjana, Lipponen Kati, Sukarova-Angelovska Elena, Jovanovska Aleksandra, Knip Mikael

机构信息

Immunogenetics Laboratory, University of Turku, Turku, Finland.

出版信息

Hum Immunol. 2009 Jun;70(6):461-3. doi: 10.1016/j.humimm.2009.03.014. Epub 2009 Mar 27.

Abstract

The lowest incidence of childhood type 1 diabetes in Europe has been reported from the Republic of Macedonia. To assess the possible genetic contribution we analyzed the distribution of HLA-DR-DQ haplotypes among 163 diabetic children and 239 healthy controls. Similar disease associations were found as in other Caucasian populations. HLA-(DR3)-DQA105-DQB102 was the most common disease associated haplotype, but several DRB104-DQB10302 haplotypes were also found increased among patients. DRB10402 was the most common DR4 allele among them. The high frequency of protective (DR11/12)-DQA105-DQB10301 and (DR14)-DQB10503 haplotypes as well as of neutral (DR1/10)-DQB10501 and (DR16)-DQB10502 haplotypes were characteristic for the background population. Although a relatively low frequency of predisposing and a high frequency of protective haplotypes was detected, the haplotype frequency distribution did not markedly differ from that reported from other Eastern Mediterranean populations and these differences cannot be the sole explanation for the low disease incidence in Macedonia.

摘要

据报道,欧洲儿童1型糖尿病发病率最低的是马其顿共和国。为评估可能的遗传因素,我们分析了163名糖尿病儿童和239名健康对照者的HLA - DR - DQ单倍型分布。发现与其他高加索人群有相似的疾病关联。HLA - (DR3)-DQA105 - DQB102是最常见的与疾病相关的单倍型,但也发现患者中几种DRB104 - DQB10302单倍型有所增加。DRB10402是其中最常见的DR4等位基因。保护性单倍型(DR11/12)-DQA105 - DQB10301和(DR14)-DQB10503以及中性单倍型(DR1/10)-DQB10501和(DR16)-DQB10502在背景人群中频率较高。尽管检测到易感单倍型频率相对较低且保护性单倍型频率较高,但单倍型频率分布与其他东地中海人群报道的情况并无明显差异,这些差异不能成为马其顿疾病发病率低的唯一解释。

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