糖尿病并发症的遗传学

A.H. Barnett, D.A. Pyke
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引用次数: 136

摘要

病程是微血管病变的主要易感因素。微血管病变的发生离不开糖尿病的代谢异常,有大量的间接证据表明其发病机制与糖尿病控制不良有关。然而,即使在明显控制相似的患者中,并发症的发生率和严重程度也是不同的,大约25%的糖尿病患者永远不会出现微血管病变的临床证据。对同卵双胞胎的研究表明,遗传因素在NIDDM视网膜病变的发病机制中起作用,而在IDDM中作用较小,但在胰岛素依赖性糖尿病的非糖尿病同卵双胞胎中没有发生毛细血管基底膜厚度增加的情况。糖尿病及其并发症也可能存在遗传异质性,尽管对于特定类型的糖尿病,微血管病变的患病率在不同种族群体中通常非常相似。几种不同的HLA分子(特别是DR4)与IDDM微血管病变之间的关联已有报道,但尚未得到一致的证实。最近,在视网膜病变患者中发现补体C4B3第四组分B3等位型的频率增加,这表明这与HLA相关。补体和免疫球蛋白都与体液免疫有关,14号染色体上IgG重链标记物的表型与视网膜病变之间的关联的报道尤其令人感兴趣。这些联系似乎是加在一起的,但又相互独立。这些报告需要证实,但至少在IDDM中,提供了微血管病变病因的免疫遗传成分(HLA和非HLA相关)的最佳证据。对同卵双胞胎、HLA和Gm相关性的研究提供了很好的证据,表明遗传因素与微血管病变的易感性有关,至少在一些糖尿病患者中是这样,尽管最相关的基因可能尚未确定。必须继续寻找更好的遗传标记,以确定那些患微血管病变风险增加的患者。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
The genetics of diabetic complications

Duration of disease is the major susceptibility factor for microangiopathy. Microangiopathy does not occur without the metabolic abnormality of diabetes and there is much circumstantial evidence to implicate poor diabetic control in its pathogenesis. The rate of development and severity of complications, however, are variable even in patients with apparently similar control and about 25% of diabetics will never develop clinical evidence of microangiopathy. Studies of identical twins suggest a genetic component in the pathogenesis of retinopathy in NIDDM, and less so in IDDM, but increased capillary basement membrane thickness does not occur in the non-diabetic identical co-twins of insulin dependent diabetics. There may also be genetic heterogeneity not only of diabetes, but also of its complications, although for a given type of diabetes the prevalence of microangiopathy is often very similar in different racial groups.

]Associations between several different HLA molecules (particularly DR4) and microangiopathy in IDDM have been reported but not consistently confirmed. Recently the finding of an increased frequency of the B3 allotype of the fourth component of complement C4B3 in subjects with retinopathy has suggested that there is an HLA linked association. Both complement and the immunoglobulins are concerned with humoral immunity and the report of an association between a phenotype of the IgG heavy chain markers on chromosome 14 and retinopathy is of particular interest. These associations appear to be additive but independent. These reports need confirmation but provide the best evidence we have for an immunogenetic component (HLA and non-HLA linked) of the aetiology of microangiopathy, at least in IDDM.

]The studies of identical twins, HLA and Gm associations provide good evidence that genetic factors are involved in susceptibility to microangiopathy, at least in some diabetics, although the most relevant genes may not have been identified. Searches for better genetic markers must continue in order to identify those patients at increased risk of developing microangiopathy.

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