Geographical differences within Finland in the frequency of HLA-DQ genotypes associated with type 1 diabetes susceptibility. The Childhood Diabetes in Finland Study Group.
Geographical differences within Finland in the frequency of HLA-DQ genotypes associated with type 1 diabetes susceptibility. The Childhood Diabetes in Finland Study Group.
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DOI：
10.1046/j.1365-2370.2000.00223.x
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发表时间：
2000-08
期刊：
影响因子：
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通讯作者：
J. Ilonen;H. Reijonen;A. Green;A. Reunanen;M. Knip;O. Simell;Åkerblom Hk
中科院分区：
文献类型：
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作者：
J. Ilonen;H. Reijonen;A. Green;A. Reunanen;M. Knip;O. Simell;Åkerblom Hk
在芬兰对与1型糖尿病风险相关的人类白细胞抗原DQ基因的地理变异进行了评估。对在图尔库(该国西南部)确诊的280名糖尿病儿童和在奥卢(该国北部)确诊的405名儿童的样本进行了研究，并从这些医院收集了14096名和10016名新生儿。将西南部和北部两个中心的1型糖尿病儿童的基因型别与代表背景人群的新生儿的基因型别进行比较，发现西南部和北部地区不同的人类白细胞抗原-DQB1基因型别所赋予的风险或保护没有重大差异。然而，在糖尿病儿童和新生儿中，当两个地区进行比较时，各种基因型的分布是不同的(P<；0.0001，CHI2检验)。这些差异反映了HLADQB102和DQB10301在图尔库族和DQB10302多见于图尔库族和奥鲁族的新生儿队列中的等位基因频率(P<；所有差异均为0.0001)。在1986-1989年间，芬兰国家儿童糖尿病研究(DIME)期间被诊断为糖尿病的儿童根据居住地进行了比较，发现了类似类型的差异。观察到的基因型和等位基因频率的差异表明，即使在一个通常被认为高度同质性的群体中，也存在着人类白细胞抗原等位基因的异质性。这些差异还影响到正在进行的芬兰糖尿病预测和预防研究中用于识别患有IDDM遗传易感性的婴儿的筛查方案的敏感性和效率。
Geographical variations in the HLA-DQ genotypes associated with risk for type 1 diabetes were evaluated in Finland. Samples of 280 diabetic children diagnosed in Turku (south-west of the country) and 405 in Oulu (north of the country) were studied as well as a series of 14 096 and 10 016 newborns collected from the same hospitals. There were no major differences in the risk or protection conferred by various HLA-DQB1 genotypes between south-western and northern parts of the country when genotypes of children with type 1 diabetes from these two centres were compared with those of newborns, representing the background populations. However, the distribution of various genotypes was different, both in diabetic children and in newborns, when compared between the two regions (P < 0.0001, chi2 test). These differences reflected the allele frequencies in newborn cohorts in which HLA-DQB1*02 and DQB1*0301 were found more often in Turku and DQB1*0302 more often in Oulu (P < 0.0001 for all differences). Similar types of differences were detected when children who were diagnosed as having diabetes during the national 'Childhood Diabetes in Finland' (DiMe) study between the years 1986-1989 were compared according to their residence. The observed differences in genotype and allele frequencies demonstrate the heterogeneity for HLA alleles even in a population that is generally regarded as highly homogeneous. These differences also affect the sensitivity and efficiency of the screening programme used for identifying infants with genetic susceptibility to IDDM in the ongoing Finnish Diabetes Prediction and Prevention Study.