Lee Seong Jin, Choi Moon Gi
Department of Endocrinology and Metabolism, College of Medicine, Hallym University, ChunCheon Sacred Heart Hospital, Kangwon-Do 200-704, South Korea.
Metabolism. 2006 Dec;55(12):1681-8. doi: 10.1016/j.metabol.2006.08.011.
This study was designed to investigate whether V16A polymorphism of the manganese superoxide dismutase (Mn-SOD) gene is associated with the development of type 2 diabetes mellitus and with progression of diabetic retinopathy (DR) and diabetic macular edema (DME). We simultaneously analyzed insertion/deletion polymorphism of the angiotensin-converting enzyme (ACE) gene in the 16th intron to avoid its confounding effect. A total of 192 nondiabetic subjects and 304 type 2 diabetic patients were included in the study. Diabetic retinopathy was classified as nonretinopathy, nonproliferative retinopathy, and proliferative retinopathy. Diabetic macular edema was defined as thickening of the retina and/or hard exudates within a 1-disk diameter of the center of the macula. Diabetic macular edema was further classified into focal, diffuse, and ischemic types. The A allele frequency of the Mn-SOD gene was not different between nondiabetic and type 2 diabetic subjects, between the normotensive and hypertensive groups, between the DR (-) and DR (+) groups, and among the stages of DR. In the DR (+) group, the DME (+) group had a lower A allele frequency than that of the DME (-) group. In the DME (+) group, focal, diffuse, and ischemic types were found in 8, 23, and 6 patients, respectively. The A allele frequency of each type was 0.188, 0.109, and 0.0. The D allele frequency of the angiotensin-converting enzyme gene did not differ in any of the comparisons. Clinical and laboratory parameters of the A allele carriers were not different from those of the noncarriers except for the prevalence of hypertension and DME. Hypertension, diabetic duration, and insulin therapy were related to DR. The A allele, hypertension, and insulin therapy were associated with DME. In conclusion, our results suggest that V16A polymorphism of the Mn-SOD gene is not related to the development of diabetes and progression of DR, but is associated with DME in Korean type 2 diabetic patients.
本研究旨在调查锰超氧化物歧化酶（Mn-SOD）基因的V16A多态性是否与2型糖尿病的发生、糖尿病视网膜病变（DR）及糖尿病性黄斑水肿（DME）的进展相关。我们同时分析了血管紧张素转换酶（ACE）基因第16内含子的插入/缺失多态性，以避免其混杂效应。本研究共纳入192名非糖尿病受试者和304名2型糖尿病患者。糖尿病视网膜病变分为无视网膜病变、非增殖性视网膜病变和增殖性视网膜病变。糖尿病性黄斑水肿定义为黄斑中心1个视盘直径范围内视网膜增厚和/或硬性渗出。糖尿病性黄斑水肿进一步分为局灶性、弥漫性和缺血性类型。Mn-SOD基因的A等位基因频率在非糖尿病与2型糖尿病受试者之间、血压正常与高血压组之间、DR（-）与DR（+）组之间以及DR各阶段之间无差异。在DR（+）组中，DME（+）组的A等位基因频率低于DME（-）组。在DME（+）组中，局灶性、弥漫性和缺血性类型分别见于8例、23例和6例患者。各类型的A等位基因频率分别为0.188、0.109和0.0。血管紧张素转换酶基因的D等位基因频率在任何比较中均无差异。除高血压和DME患病率外，A等位基因携带者的临床和实验室参数与非携带者无差异。高血压、糖尿病病程和胰岛素治疗与DR相关。A等位基因、高血压和胰岛素治疗与DME相关。总之，我们的结果表明，Mn-SOD基因的V16A多态性与韩国裔2型糖尿病患者的糖尿病发生及DR进展无关，但与DME相关。
