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磺脲类受体基因(ABCC8)常见的C49620T多态性、肥胖的长期2型糖尿病患者的胰岛β细胞功能及长期糖尿病并发症

The common C49620T polymorphism in the sulfonylurea receptor gene (ABCC8), pancreatic beta cell function and long-term diabetic complications in obese patients with long-lasting type 2 diabetes mellitus.

作者信息

Stefanski A, Majkowska L, Ciechanowicz A, Frankow M, Safranow K, Parczewski M, Pilarska K

机构信息

Department of Diabetology and Internal Diseases, Pomeranian Medical University, Szczecin, Poland.

出版信息

Exp Clin Endocrinol Diabetes. 2007 May;115(5):317-21. doi: 10.1055/s-2007-967086.

Abstract

HYPOTHESIS

A gene polymorphism associated with accelerated beta-cell failure may lead to a more rapid development of long-term complications of type 2 diabetes (T2DM) due to a worse metabolic control of the disease.

AIM OF THE STUDY

Evaluation of an association between the intronic C49620T (exon 16 -3c-->t) polymorphism in the ABCC8 (SUR1) gene and beta-cell function, as well as the prevalence of long-term diabetic complications in obese patients with long-lasting type 2 diabetes.

METHODS

Two hundred and fifteen obese patients with at least a 10-year history of T2DM were thoroughly characterized clinically. In all the patients the intravenous glucagon test was performed and the C49620T ABCC8 polymorphism was assessed. Subgroups of patients, classified either according to genotype or to allele carriage, were compared.

RESULTS

No difference was found between the groups in variables describing beta-cell function and the prevalence of chronic diabetic complications, with the exception of a significantly lower incidence of brain stroke in CC homozygotes than in patients carrying T allele (CT+TT). Body mass index was higher in patients carrying C allele than in TT homozygotes. HDL-cholesterol was higher in CT heterozygous than in homozygous CC or TT patients.

CONCLUSIONS

There is no association between the ABCC8 polymorphism gene and the beta-cell function or the prevalence of chronic diabetic complications in obese patients with long-term T2DM, except for brain stroke. The results might suggest that the homozygous CC subjects are at lower risk of the complication, but additional studies are warranted to test this finding.

摘要

假设

一种与β细胞功能加速衰退相关的基因多态性,可能由于2型糖尿病(T2DM)代谢控制较差,导致该疾病长期并发症的发展更为迅速。

研究目的

评估ABCC8(SUR1)基因内含子C49620T(外显子16 -3c→t)多态性与β细胞功能之间的关联,以及肥胖的长期2型糖尿病患者中糖尿病长期并发症的患病率。

方法

对215例有至少10年T2DM病史的肥胖患者进行全面的临床特征分析。对所有患者进行静脉注射胰高血糖素试验,并评估C49620T ABCC8多态性。比较根据基因型或等位基因携带情况分类的患者亚组。

结果

在描述β细胞功能的变量和慢性糖尿病并发症的患病率方面,各亚组之间未发现差异,但CC纯合子的脑卒中发病率显著低于携带T等位基因(CT+TT)的患者。携带C等位基因的患者体重指数高于TT纯合子。CT杂合子的高密度脂蛋白胆固醇高于CC或TT纯合子患者。

结论

除脑卒中外,ABCC8基因多态性与肥胖的长期T2DM患者的β细胞功能或慢性糖尿病并发症的患病率之间无关联。结果可能提示CC纯合子受试者发生并发症的风险较低,但需要更多研究来验证这一发现。

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