·糖尿病分子生物学与遗传学·

　　张旭祥 李红 念馨 刘华 左帆

　　作者单位：650032 昆明医学院第一附属医院内分泌科(张旭祥、李红、念馨、左帆)，检验科(刘华)

　　通讯作者：念馨，E-mail：nianxinkm@hotmail.com

　　基金项目：2005年云南省教育厅基金项目(5y0336)

　　【摘要】 目的 探讨叉头框C2(FOXC2)基因5′非翻译区C-512T和G-350T多态性与2型糖尿病(T2DM)的相关性。 方法 选择云南省汉族人群280例，其中T2DM患者159例为T2DM组，无糖尿病家族史的健康对照121名为对照(NC)组。应用PCR-RFLP检测FOXC2基因5′非翻译区C-512T和G-350T多态性。 结果 T2DM组和NC组组间，FOXC2基因C-512T和G-350T的基因型和等位基因频率分布差异均无统计学意义，且与性别无关。T2DM组-512C/C基因型携带者具有更高的WHR(P<0.05)，该人群患脂肪肝的比例明显升高(P<0.05)。-350G/G基因型携带者具有更高的HDL-C(P<0.05)，该人群患脂肪肝的比例明显降低(P<0.01)。 结论 T2DM患者FOXC2基因C-512T多态性与WHR、脂肪肝相关;G-350T多态性与HDL-C、脂肪肝相关。

　　【关键词】叉头框C2;糖尿病，2型;多态性，基因

　　doi:10.3969/j.issn.1006-6187.2011.03.003

　　The correlation of the FOXC2 C-512T and G-350T polymorphism with type 2 diabetes

　　ZHANG Xu-xiang, LI Hong, NIAN Xin, et al. Department of Endocrinology,First Affiliated Hospital of Kunming Medical College,Kunming 650032,China

　　Corresponding author: Nian Xin, E-mail：nianxinkm@hotmail.com

　　【Abstract】 Objective To investigate the association of FOXC2 C-512T and G-350T polymorphism with type 2 diabetes. Methods The study subjects included 159 type 2 diabetics and 121 normal controls from Han nationality. The FOXC2 gene C-512T and　G-350T polymorphism was detected by heminested PCR-RFLP assay. Results FOXC2 C-512T and G-350T allele and genotype distribution did not differ between patients with type 2 diabetes and control subjects(P>0.05).The C/C genotype versus C/T and T/T genotype was associated with higher waist/hip ratio(P<0.05)and higher rate of fat liver disease(P<0.05)in type 2 diabetic patients. The G/G genotype versus G/T and T/T genotype was associated with higher HDL-C(P<0.05)and lower rate of fat liver disease(P<0.01)in type 2 diabetic patients. Conclusions FOXC2 C-512T polymorphism is associated with waist/hip ratio and fat liver disease,and FOXC2 G-350T polymorphism is associated with HDL-C and fat liver disease.

　　【Key words】Forkhead transcription factor; Diabetes mellitus, type 2; Polymorphism, gene