The E23K and A190A variations of the KCNJ11 gene are associated with early-onset type 2 diabetes and blood pressure in the Chinese population
The E23K and A190A variations of the KCNJ11 gene are associated with early-onset type 2 diabetes and blood pressure in the Chinese population
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DOI：
10.1007/s11010-015-2373-7
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发表时间：
2015-03
影响因子：
4.3
通讯作者：
Langen Zhuang;Yu Zhao;Weijing Zhao;Ming Li;Ming Yu;Ming-Qing Lu;Rong Zhang;Xiaoxu Ge;T. Zheng;Can-Ming Li;Jun Yin;Jingyuan Yin;Y. Bao;Limei Liu;W. Jia;Yanjun Liu
中科院分区：
文献类型：
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作者：
Langen Zhuang;Yu Zhao;Weijing Zhao;Ming Li;Ming Yu;Ming-Qing Lu;Rong Zhang;Xiaoxu Ge;T. Zheng;Can-Ming Li;Jun Yin;Jingyuan Yin;Y. Bao;Limei Liu;W. Jia;Yanjun Liu
在不同种族人群中，已报道了定义（KCNJ 11）变异与迟发性（>40岁）2型糖尿病（T2 DM）易感性之间的显著相关性。我们研究了KCNJ 11基因E23 K（G→A，rs 5219）或A190 A（C→T，rs 5218）变异是否与中国人群早发性2型糖尿病和血压相关。在175例接受（ins+，n= 57）或未接受（ins-，n= 118）胰岛素治疗的中国早发性T2 DM（发病年龄<40岁）无亲缘关系患者和182例非糖尿病对照受试者中开展的病例对照研究。对E23 K和A190 A基因型进行PCR直接测序，分析基因型频率及其与临床特征的关系。早发T2 DM组E23 K-GA +AA基因型频率高于非糖尿病对照组，而A190 A-TT基因型频率低于非糖尿病对照组，尤以T2 D-ins+组为甚（p< 0.01或0.05）。在非糖尿病组中，E23 K-AA携带者2 h血糖显著高于E23 K-GG携带者，2 h胰岛素显著低于E23 K-GG携带者（均P < 0.05）。非糖尿病对照组和T2 DM组中A190 A-TT和E23 K-GG携带者的收缩压（SBP）均高于CC和AA携带者（P均< 0.05）。在T2 DM ins+组中，E23 K-AA携带者的发病年龄、病程、BMI均低于GG携带者，A190 A-TT携带者的SBP高于CC携带者（均P < 0.05）。E23 K-GA或AA基因型可能增加早发T2 DM的易感性，而A190 A-TT基因型可能对早发T2 DM具有保护作用。A190 A-TT或E23 K-GG基因型可能增加中国人群高血压的风险。
Conflicting associations between define (KCNJ11) variations and susceptibility to late-onset (>40 years old) type 2 diabetes mellitus (T2DM) have been reported in different ethnic groups. We investigated whether the E23K (G→A, rs5219) or A190A (C→T, rs5218) variations inKCNJ11are associated with early-onset T2DM and blood pressure in the Chinese population. Case-control study of 175 unrelated Chinese patients with early-onset T2DM (age of onset <40 years old) who receive (ins+,n= 57) or do not receive insulin (ins−,n= 118), and 182 non-diabetic control subjects. PCR-direct sequencing was performed to genotype E23K and A190A; the genotypic frequencies and associations with clinical characteristics were analyzed. The genotypic frequencies of E23K-GA+AA were higher and A190A-TT was lower in the early-onset T2DM group, especially the T2D-ins+ group, compared to the non-diabetic control group (p< 0.01 or 0.05, respectively). In non-diabetic subjects, E23K-AA carriers had significantly higher 2 h plasma glucose and lower 2 h insulin than E23K-GG carriers (bothp< 0.05). A190A-TT or E23K-GG carriers had higher systolic blood pressure (SBP) than CC or AA carriers in the non-diabetic control and T2DM groups (bothp< 0.05). In the T2DM ins+ group, E23K-AA carriers had lower onset age and duration of diabetes and higher BMI than GG carriers, and A190A-TT carriers had higher SBP than CC carriers (allp< 0.05). The E23K-GA or AA genotypes may increase the susceptibility to early-onset T2DM, while A190A-TT may protect against early-onset T2DM. On the other hand the A190A-TT or E23K-GG genotypes may increase the risk of hypertension in the Chinese population.