·糖尿病分子生物学和遗传学·

　　【摘要】 目的 探讨乙酰辅酶A羧化酶B(ACACB)基因rs2268383多态性与我国昆明地区汉族人群糖尿病慢性肾脏疾病(CKD)的相关性。 方法 选取T2DM患者248例，根据两次UAlb/Cr或24 hUAlb结果分为CKD0组85例、CKD1组99例及CKD2组64例,另选取健康对照(NC)组70名。采用Taqman PCR(Three-star)法对各组ACACB基因rs2268383多态性进行检测，并比较分析各组基因型、等位基因频率、风险因素及相关临床和生化指标。 结果 (1)CKD各组C/T基因型频率均低于NC组(Z=-2.391，P=0.017);CKD1组和CKD2组ACACB基因rs2268388T/T基因型频率高于CKD0组(Z=-2.522，P=0.012;Z=-4.981，P=0.001);CKD1组和CKD2组T/T基因型频率及各组等位基因频率比较，差异无统计学意义(P>0.05)。(2)Logistic回归分析表明，糖尿病病程、rs2268383T/T基因型、高TG、高HbA1c及高尿酸血症(HUA)是CKD发生的危险因素。 结论 在昆明地区汉族人群中，ACACB基因rs2268383 T/T基因型可能与CKD发生相关。

　　【关键词】 糖尿病，2型;乙酰辅酶A羧化酶B基因;多态性;糖尿病性肾脏疾病

　　【Abstract】 Objective To explore the association of the rs2268383 polymorphism of ACACB gene with diabetic kidney disease (CKD) in Kunming Han Chinese population. Methods A total of 248 T2DM patients and 70 healthy controls were enrolled in this study. All the T2DM patients were divided into three groups: CKD0 group (UAlb/Cr<30 mg/24 h, n=85), CKD1 group (UAlb/Cr :30～299 mg/24 h, n=99) and CKD2 group (UAlb/Cr>300 mg/24 h, n=64). The genotype was detected by Taqman PCR(Three-star). The genotype and allele frequencies and related clinic characteristics were compared among groups. Results (1) C/T genotype frequencies in CKD0、CKD1 and CKD2 group were significantly lower than in NC group(Z=-2.391，P=0.017). T/T genetype frequencies of ACACB gene in CKD1 and CKD2 group were significantly higher than in CKD0 group(Z=-2.522，P=0.012; Z=-4.981，P=0.001). The difference of T/T genetype frequency was not significant between CKD2 and CKD1 group(P>0.05). (2) Logistic regression analysis showed that in patients with T2DM, diabetic duration, rs2268383 T/T genotype, higher TG, higher HbA1c and HUA were risk factors for CKD. Conclusions Rs2268383 T/T genotype of ACACB gene may be related with CKD development in Kunming Han Chinese population.

　　【Key words】 Diabetes mellitus, type 2; Acetyl-coa carboxylase B gene ;Polymorphism;Diabetic kidney disease