醛糖还原酶基因C(-106)T多态性与糖尿病视网膜病变的进展速率
C(-106)T polymorphism of the aldose reductase gene and the progression rate of diabetic retinopathy.
作者信息
Olmos Pablo, Bastías María-Juliana, Vollrath Valeska, Toro Luis, Trincado Arturo, Salinas Pablo, Claro Juan-Carlos, López José-Manuel, Acosta Ana-María, Miquel Juan-Francisco, Castro Juan
机构信息
Department of Nutrition and Diabetes, College of Medicine, Pontificia Universidad Católica de Chile, Alameda 340, Santiago 6513492, Santiago, Chile.
出版信息
Diabetes Res Clin Pract. 2006 Nov;74(2):175-82. doi: 10.1016/j.diabres.2006.03.019. Epub 2006 May 15.
PURPOSE
To study the C(-106)T polymorphism in the promoter of the aldose reductase (ALR2) gene: (a) its local prevalence and (b) its modulation of the susceptibility for developing retinopathy.
METHODS
DNAs of 96 control subjects and 53 long-standing (duration 17.9+/-5.4 years) type-2 diabetic patients were analyzed by PCR-RFLP with BfaI enzyme. Retinopathy was graded with 2-eye, 7-field fundus color photography. The IMF-HbA1c was the arithmetic mean of all HbA1c's of each patient.
RESULTS
The genotypes in the controls were CC=57 (59.4%), CT=32 (33.3%) and TT=7 (7.3%), with Hardy-Weinberg chi(2)=0.793 (p>0.50). Among 53 diabetics, CC=24 (45.3%), CT=26 (49.0%) and TT=3 (5.7%). The correlation between IMF-HbA1c and retinopathy progression rate was significant on CC (r=0.6102, p=0.0072) but not in CT+TT genotypes (r=0.26, p=0.1811).
CONCLUSIONS
In Chilean adults, the frequency of the C(-106)T polymorphism of the ALR2 gene was similar to that reported by others. Type-2 diabetics with the CC genotype were more susceptible for developing retinopathy as a result of chronic hyperglycemia than those with the CT or TT genotype.
目的
研究醛糖还原酶（ALR2）基因启动子区域的C（-106）T多态性：（a）其在当地的流行情况；（b）其对发生视网膜病变易感性的影响。
方法
采用BfaI酶切的PCR-RFLP方法分析96名对照者和53名病程较长（17.9±5.4年）的2型糖尿病患者的DNA。通过双眼7视野眼底彩色照相术对视网膜病变进行分级。平均糖化血红蛋白（IMF-HbA1c）为每位患者所有糖化血红蛋白的算术平均值。
结果
对照组的基因型为CC=57例（59.4%），CT=32例（33.3%），TT=7例（7.3%），Hardy-Weinberg卡方值=0.793（p>0.50）。53例糖尿病患者中，CC=24例（45.3%），CT=26例（49.0%），TT=3例（5.7%）。在CC基因型中，IMF-HbA1c与视网膜病变进展率之间存在显著相关性（r=0.6102，p=0.0072），而在CT+TT基因型中则无相关性（r=0.26，p=0.1811）。
结论
在智利成年人中，ALR2基因C（-106）T多态性的频率与其他报道相似。与CT或TT基因型的2型糖尿病患者相比，CC基因型的患者因慢性高血糖更易发生视网膜病变。
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