摘要
目的探讨锰超氧化物歧化酶（manganese superoxide dismutase，Mn-SOD）基因Ala（-9）Val多态性与2型糖尿病视网膜病变发生的关联性。方法应用PCR-直接测序方法检测了中国湖北地区汉族264例2型糖尿病患者和198名正常对照者的Mn-SOD基因Ala（-9）Val多态性（GC3→GTT）。结果（1）2型糖尿病组与正常对照组比较，VV基因型频率（72．7％vs67．2％，P〉0．05）与V等位基因频率（76．1％vs71．0％，P〉0．05）差异无统计学意义。（2）在2型糖尿病者中，有糖尿病视网膜病变（diabetic retinopathy，DR）组VV基因型频率为79．2％，与无糖尿病视网膜病变（non-diabetic retinopathy，NDR）组（66．9％）比较，差异有统计学意义（x0=5．015，P=0．025）；V等位基因频率在DR组为82．4％，NDR组为70．5％，差异亦有统计学意义（x010．253，P=0．001）；NDR组与正常对照组比较，VV基因型频率（66．9％vs67．2％，P〉0．05）及V等位基因频率（70．5％vs71．0％，P〉0．05）差异无统计学意义，V等位基因与2型糖尿病视网膜病发生相关（OR=1．96，95％CI：1．29～2．97）。（3）基因型为VV型的2型糖尿病患者其Mn-SOD水平较从型、AV型患者低，差异有统计学意义（P=0．025），其总超氧化物歧化酶有增加趋势，但差异无统计学意义（P〉0．05）。结论Mn-SOD基因Ala（-9）Val多态性与2型糖尿病发病无关，但可能参与了2型糖尿病视网膜病变的发生、发展过程。
Objective To investigate the association of the polymorphism in manganese superoxide dismutase （Mn-SOD） gene in Chinese type 2 diabetic patients with diabetic retinopathy. Methods The Ala（-9）Val polymorphism of the Mn-SOD gene was determined by polymerase chain reaction and direct sequencing in 198 normal control subjects and 264 patients with type 2 diabetes mellitus, among them there were 139 non-diabetic retinopathy （NDR） subjects and 125 subjects with diabetic retinopathy （DR）. Results There was no statistic difference in the frequencies of W genotype and V allele between the type 2 diabetic group and the control group. However, the frequencies of W genotype and V allele were significantly higher in the DR group than that in the NDR group（X^2 = 5.015, P = 0.025; X^2 = 10.253, P = 0. 001 ）, but there was no statistic difference in the NDR group compared with the control group（ P 〉 0.05）. The presence of V allele was shown to be associated with diabetic retinopathy （OR = 1.96,95 % CI： 1.29-2.97）. Furthermore, the subjects carrying the VV genotype had lower serum Mn-SOD level （P = 0. 025）and had a tendency of higher total serum SOD activity, but this tendency had no statistic significance. Conclusion The Ala（-9）Val polymorphism in the Mn-SOD gene may not be related to the etiology of type 2 diabetes, but it seems to contribute to the development of diabetic retinopathy in Chinese type 2 diabetic patients.
出处
《中华医学遗传学杂志》
CAS
CSCD
北大核心
2008年第4期452-454,共3页
Chinese Journal of Medical Genetics
