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一个新的 CDKAL1 多态性(rs35612982)是 2 型糖尿病的危险因素:一项病例对照研究。

A Novel Polymorphism (rs35612982) in CDKAL1 Is a Risk Factor of Type 2 Diabetes: A Case-Control Study.

机构信息

Department of Endocrinology and Second Department of Geriatrics, The First Affiliated Hospital of Xi'an Jiaotong University, Xi'an, China.

Department of Nursing, the First Affiliated Hospital of Xi'an Jiaotong University, Xi'an, China.

出版信息

Kidney Blood Press Res. 2019;44(6):1313-1326. doi: 10.1159/000503175. Epub 2019 Oct 22.

Abstract

BACKGROUND

The interaction of environmental factors and genetic factors may contribute to the risk of type 2 diabetes (T2D). We aimed to investigate whether age, gender, body mass index (BMI) and lifestyle factors have an effect on the association between the CDKAL1 polymorphisms and T2D.

METHODS

Eight single nucleotide polymorphisms in CDKAL1 were genotyped by Agena MassARRAY in 508 T2D patients and 503 controls. The association between the CDKAL1 polymorphisms and T2D was evaluated using logistic regression model by calculating OR and 95% CIs.

RESULTS

We found a significant association between CDKAL1 polymorphisms (rs4712523, OR 1.42, p = 9.44 × 10-5; rs4712524, OR 1.38, p = 3.28 × 10-4; rs10946398, OR 1.43, p = 6.21 × 10-5; rs7754840, OR 1.43, p = 6.33 × 10-5; rs35612982, OR 1.34, p = 0.0010; and rs10440833, OR 1.32, p = 0.0018) and T2D risk among the Han population from Northwest China. We also found that genetic variants of CDKAL1 could modify the risk of T2D that might be influenced by age, BMI and the status of smoking and drinking. Besides, rs35612982-CT (p = 0.038) and rs10440833-AT (p = 0.044) genotypes were higher insulin level.

CONCLUSION

CDKAL1 rs35612982 (C/T) polymorphism, as a new polymorphism, was associated with the increased risk of T2D in the Han Chinese population. Moreover, the contribution of CDKAL1 polymorphisms to T2D risk seems to be associated with age, gender, BMI, smoking and drinking.

摘要

背景

环境因素和遗传因素的相互作用可能导致 2 型糖尿病(T2D)的发生风险增加。我们旨在探讨年龄、性别、体重指数(BMI)和生活方式因素是否会影响 CDKAL1 多态性与 T2D 之间的关联。

方法

采用 Agena MassARRAY 对 508 例 T2D 患者和 503 例对照者的 8 个 CDKAL1 单核苷酸多态性进行基因分型。采用 logistic 回归模型计算 OR 和 95%CI,评估 CDKAL1 多态性与 T2D 的相关性。

结果

我们发现 CDKAL1 多态性(rs4712523,OR 1.42,p=9.44×10-5;rs4712524,OR 1.38,p=3.28×10-4;rs10946398,OR 1.43,p=6.21×10-5;rs7754840,OR 1.43,p=6.33×10-5;rs35612982,OR 1.34,p=0.0010;rs10440833,OR 1.32,p=0.0018)与中国西北地区汉族人群 T2D 发病风险之间存在显著关联。我们还发现,CDKAL1 基因变异可以修饰 T2D 发病风险,且这种修饰作用可能受年龄、BMI、吸烟和饮酒状况的影响。此外,rs35612982-CT(p=0.038)和 rs10440833-AT(p=0.044)基因型与较高的胰岛素水平相关。

结论

CDKAL1 rs35612982(C/T)多态性作为一种新的多态性,与汉族人群 T2D 的发病风险增加有关。此外,CDKAL1 多态性对 T2D 发病风险的贡献似乎与年龄、性别、BMI、吸烟和饮酒有关。

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