Suppr超能文献

[波兰人群妊娠期糖尿病中的葡萄糖激酶基因突变。产后糖尿病发展的预测]

[Glucokinase gene mutations in gestational diabetes in Polish population. Prediction of diabetes mellitus development after delivery].

作者信息

Okruszko Anna, Kinalski Maciej, Kuźmicki Mariusz, Mirończuk Katarzyna, Wawrusiewicz-Kurylonek Natalia, Kinalska Ida, Kretowski Adam

机构信息

Klinika Endokrynologii, Diabetologii i Chorób Wewnetrznych AM, Białystok.

出版信息

Przegl Lek. 2007;64(6):401-5.

Abstract

Gestational Diabetes Mellitus (GDM) comprises different forms of glucose metabolism disturbances with first recognition during pregnancy. There are a number of publications that have suggested that diabetes with onset during pregnancy is not a monogeneous disease and apart from "classical" form of GDM, which precedes type 2 diabetes development, MODY 2 diabetes, caused by monogenic defect of glucokinase gene, is relatively frequent "subtype" of gestational diabetes. The aim of our study was to estimate the risk of diabetes mellitus development, including MODY 2 diabetes, between 6 months - 10 years after delivery in 225 women with gestational diabetes. Gucokinase gene mutations and polymorphisms were performed by direct sequencing of DNA. In the present study it was shown that the frequency of glucokinase gene mutation is 6.7% in the Polish population of gestational diabetic women and 17.8% of new onset or persistant diabetes recognised during 5 years after pregnancy could be a result of this mutation. We have also observed that risk of type 2 diabetes development is about 50% in the next 5 years after delivery in women with gestational diabetes and is associated with higher levels of BMI during or after delivery and with clinical and biochemical features of insulin resistance (high values of WHR abd HOMA-R). Moreover, our study suggests that c.1253+8 C-->T polymorphism in intron 9 of glucokinase gene could have a role in predisposition to type 2 diabetes in women with gestational diabetes. In summary, our results suggest that, because of high costs and time-consuming methods of genetic studies, the investigations of glucokinase gene mutations should be concentrated in women with gestational diabetes without clinical and biochemical features of insulin resistance, but with family history of diabetes in two generations.

摘要

妊娠期糖尿病(GDM)包括孕期首次识别出的不同形式的糖代谢紊乱。有许多出版物表明,孕期发病的糖尿病并非单一疾病,除了先于2型糖尿病发生的“经典”GDM形式外,由葡萄糖激酶基因单基因缺陷引起的青少年发病的成年型糖尿病(MODY 2糖尿病)是妊娠期糖尿病相对常见的“亚型”。我们研究的目的是评估225例妊娠期糖尿病妇女产后6个月至10年发生糖尿病(包括MODY 2糖尿病)的风险。通过DNA直接测序检测葡萄糖激酶基因突变和多态性。本研究表明,在波兰妊娠期糖尿病女性人群中,葡萄糖激酶基因突变频率为6.7%,孕期后5年内新诊断或持续存在的糖尿病中,17.8%可能是由该突变导致的。我们还观察到,妊娠期糖尿病女性产后未来5年内发生2型糖尿病的风险约为50%,且与产后期间或产后较高的BMI水平以及胰岛素抵抗的临床和生化特征(高WHR和HOMA-R值)相关。此外,我们的研究表明,葡萄糖激酶基因第9内含子中的c.1253+8 C→T多态性可能在妊娠期糖尿病女性患2型糖尿病的易感性中起作用。总之,我们的结果表明,由于基因研究成本高且方法耗时,葡萄糖激酶基因突变的研究应集中在无胰岛素抵抗临床和生化特征但有两代糖尿病家族史的妊娠期糖尿病女性中。

文献检索

告别复杂PubMed语法,用中文像聊天一样搜索,搜遍4000万医学文献。AI智能推荐,让科研检索更轻松。

立即免费搜索

文件翻译

保留排版,准确专业,支持PDF/Word/PPT等文件格式,支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述,25分钟生成高质量综述,智能提取关键信息,辅助科研写作。

立即免费体验