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[阿塞拜疆人群中1型糖尿病儿童的蛋白酪氨酸磷酸酶非受体22基因研究]

[STUDY OF THE PTPN22 GENE IN CHILDREN WITH TYPE 1 DIABETES MELLITUS IN THE AZERBAIJANI POPULATION].

作者信息

Ahmadov G

机构信息

Azerbaijan Medical University, Department of Children's Diseases II, Baku, Azerbaijan.

出版信息

Georgian Med News. 2017 Oct(271):45-49.

Abstract

The PTPN22 gene was studied in 160 children with type 1 diabetes mellitus under the age of 18 years and in 271 healthy children. Of the 160 patients, 50.6% (n=81) were boys, 49.4% (n=79) were girls. The average age of diabetic children was 9.1 years. The survey was conducted on the basis of the Children's Clinical Hospital No. 6 in Baku city. For all patients, a special questionnaire was filled out. Only children of Azerbaijani nationality were included in the study. As a comparison group, 271 students of the Medical College No. 1 of Baku city were involved. Of these, 29.1% (n=79) were boys, 70.9% (n = 192) girls. The control group did not include children with endocrine diseases. The collected blood samples were sent for further investigation to the medical genetic laboratory of the University Hospital of Motol at Charles University, located in the city of Prague (Czech Republic). This laboratory has a European certificate for conducting molecular genetic studies. In the Azerbaijani population, 3 polymorphisms of the PTPN22 gene were studied: 1123 (rs2488457), +1848 (rs2476601, or R620W), +2740 (rs1217412). Relationship with insulin-dependent diabetes mellitus was found only in polymorphism R620W. In this case, a minor allele (W) was found in 8 (5%) patients with diabetes mellitus and only 2 (0.74%) of healthy children, which is a reliable result (OR 7.1, 95% CI = 1.5 -34). Polymorphisms -1123 C/G and +2740 A/G showed no correlation with diabetes mellitus. The Azerbaijani population has higher odds ratios for haplotypes-1123C W620 + 2740G (OR 14.8, 95% CI=2.0-651). No inter-sex correlation was observed in the examined. At the same time, the trend was also not revealed.

摘要

对160名18岁以下的1型糖尿病患儿和271名健康儿童进行了PTPN22基因研究。160名患者中,50.6%(n = 81)为男孩,49.4%(n = 79)为女孩。糖尿病患儿的平均年龄为9.1岁。该调查在巴库市第6儿童医院进行。所有患者均填写了一份特殊问卷。研究仅纳入阿塞拜疆国籍的儿童。作为对照组,纳入了巴库市第1医学院的271名学生。其中,29.1%(n = 79)为男孩,70.9%(n = 192)为女孩。对照组不包括患有内分泌疾病的儿童。采集的血样被送往位于布拉格市(捷克共和国)的查理大学Motol大学医院医学遗传实验室进行进一步研究。该实验室拥有进行分子遗传学研究的欧洲认证。在阿塞拜疆人群中,研究了PTPN22基因的3种多态性:1123(rs2488457)、+1848(rs2476601,或R620W)、+2740(rs1217412)。仅在多态性R620W中发现与胰岛素依赖型糖尿病有关。在这种情况下,8名(5%)糖尿病患者中发现了次要等位基因(W),而健康儿童中仅2名(0.74%)发现,这是一个可靠的结果(OR 7.1,95%CI = 1.5 - 34)。多态性-1123 C/G和+2740 A/G与糖尿病无相关性。阿塞拜疆人群中,单倍型-1123C W620 + 2740G的优势比更高(OR 14.8,95%CI = 2.0 - 651)。在所检查的人群中未观察到性别间的相关性。同时,也未发现相关趋势。

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