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胰岛素多态性-23Hph 增加罗马尼亚人群患 1 型糖尿病的风险。

The insulin polymorphism -23Hph increases the risk for type 1 diabetes mellitus in the Romanian population.

机构信息

Department of Human Genetics and Molecular Diagnosis, Institute of Genetics, University of Bucharest, Bucharest Romania.

出版信息

Genet Mol Biol. 2010 Oct;33(4):610-4. doi: 10.1590/S1415-47572010005000074. Epub 2010 Dec 1.

DOI:10.1590/S1415-47572010005000074
PMID:21637566
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3036149/
Abstract

The insulin -23Hph and IGF2 Apa polymorphisms were genotyped in Romanian patients with T1DM (n = 204), T2DM (n = 215) or obesity (n = 200) and normoponderal healthy subjects (n = 750). The genotypes of both polymorphisms were distributed in concordance with Hardy-Weinberg equilibrium in all groups. The -23Hph AA genotype increased the risk for T1DM (OR: 3.22, 95%CI: 2.09-4.98, p < 0,0001), especially in patients without macroalbuminuria (OR: 4.32, 95%CI: 2.54-7.45, p < 0,0001). No other significant association between the alleles or genotypes of insulin -23Hph and IGF2 Apa and diabetes or obesity was identified.

摘要

在罗马尼亚的 1 型糖尿病（T1DM）患者（n=204）、2 型糖尿病（T2DM）患者（n=215）或肥胖症患者（n=200）和体重正常的健康受试者（n=750）中，对胰岛素-23Hph 和 IGF2 Apa 多态性进行了基因分型。在所有组中，两种多态性的基因型均符合 Hardy-Weinberg 平衡。-23Hph AA 基因型增加了 T1DM 的风险（OR：3.22，95%CI：2.09-4.98，p<0.0001），尤其是在无大量白蛋白尿的患者中（OR：4.32，95%CI：2.54-7.45，p<0.0001）。未发现胰岛素-23Hph 和 IGF2 Apa 的等位基因或基因型与糖尿病或肥胖之间存在其他显著关联。

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本文引用的文献

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The accelerator hypothesis: a review of the evidence for insulin resistance as the basis for type I as well as type II diabetes.加速假说：胰岛素抵抗作为 1 型和 2 型糖尿病基础的证据综述。
Int J Obes (Lond). 2009 Jul;33(7):716-26. doi: 10.1038/ijo.2009.97. Epub 2009 Jun 9.
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Variants in the human insulin gene that affect pre-mRNA splicing: is -23HphI a functional single nucleotide polymorphism at IDDM2?影响前体mRNA剪接的人类胰岛素基因变体：-23HphI是否为IDDM2处的功能性单核苷酸多态性？
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The 'accelerator hypothesis': relationship between weight, height, body mass index and age at diagnosis in a large cohort of 9,248 German and Austrian children with type 1 diabetes mellitus.“加速假说”：9248名德国和奥地利1型糖尿病儿童的大型队列中体重、身高、体重指数与诊断年龄之间的关系
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Replication of IGF2-INS-TH*5 haplotype effect on obesity in older men and study of related phenotypes.IGF2-INS-TH*5单倍型对老年男性肥胖影响的复制及相关表型研究
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Diabetes. 2005 Sep;54(9):2812-5. doi: 10.2337/diabetes.54.9.2812.
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Increasing body weight predicts the earlier onset of insulin-dependant diabetes in childhood: testing the 'accelerator hypothesis' (2).体重增加预示着儿童期胰岛素依赖型糖尿病发病更早：对“加速器假说”的验证(2)。
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VNTR polymorphism of the insulin gene and childhood overweight in a general population.普通人群中胰岛素基因的可变数目串联重复多态性与儿童期超重
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