肝脂酶基因启动子区-514C/T多态性与2型糖尿病血脂代谢和胰岛素抵抗的相关性研究

Association of hepatic lipase gene promoter region 514C/T polymorphism with lipid metabolism and insulin resistance in type 2 diabetes mellitus

目的探讨肝脂酶（HL）基因启动子区-514C/T多态性与2型糖尿病（DM）血脂代谢和胰岛素抵抗（IR）的相关性。方法采用聚合酶链反应—限制性片段长度多态性分析（PCR-RFLP）结合DNA测序技术,对2型DM患者284例（DM组）和糖耐量正常的健康对照者197例（NC组）进行HL-514C/T多态性检测,并观察该基因多态性与血脂代谢、IR的相关性。结果（1）DM组患者C/C基因型和C/T＋T/T基因型频率分别为39.2%和60.8%,等位基因C和T频率分别为64.5%和35.5%,NC组分别为32.7%、67.3%和63.2%、36.8%,2组比较差异无统计学意义（P＞0.05）。（2）DM组中C/T＋T/T基因型患者三酰甘油水平为（2.93±1.37）mmol/L,C/C基因型患者为（2.07±1.82）mmol/L,2组比较差异有统计学意义（P〈0.05）,余指标比较差异均无统计学意义（P＞0.05）。（3）DM组中C/T＋T/T基因型患者与C/C基因型患者IR相关指标比较差异均无统计学意义（P＞0.05）。（4）Logistic回归分析表明,DM组中HL-514C/T基因多态性、BMI与TG异常呈正相关（OR=3.042,95%CI 1.265～7.317;OR=2.600,95%CI 1.520～4.447,P均〈0.05）。结论 HL-514C/T基因多态性可能与2型DM的发生无相关性,与2型DM患者IR亦无关,但是HL-514T等位基因可能是2型DM患者发生高TG血症的危险因素。

Objective To investigate the correlation among the hepatic lipase（HL） gene promoter514C/T polymorphism,type 2 diabetes（DM） lipid metabolism and insulin resistance（IR）.Methods Application the restriction fragment length polymorphism analysis of polymerase chain reaction（PCR-RFLP） combined with DNA sequencing technology,284 cases of type 2 DM patients（DM group） and normal glucose tolerance in 197 healthy subjects（group NC） were enrolled and underwent for HL-514C/T polymorphism detection,and to observe the correlation between the gene polymorphism,serum lipid metabolism and IR.Results（1） The patients in the DM group with C/C and C/T ＋ T/T genotypes frequencies were 39.2%and 60.8%,C and T allele frequencies were 64.5%and 35.5%,NC group were 32.7%,67.3%and 63.2%,36.8%,2groups had no significant difference（P〉0.05）.（2） The patients with C/T ＋ T/T genotype three triglyceride level of DM group was（2.93 ± 1.37） mmol/L,C/C genotype were（2.07 ± 1.82） mmol/L,there was significant difference between the2 groups（P 〈0.05）,the difference of rest indices were not statistically significant（P〉0.05）.（3） The differences of relevant indices of C/T ＋ T/T genotype and C/C genotype patients＇ IR were not significandy（P〉 0.05）.（4） Logistic regression analysis showed that,DM groups HL-514C/T gene polymorphisms,BMI were positively correlated with TG anomalies（OR =3.042,95%CI 1.265-7.317;OR = 2.600,95%CI 1.520-4.447,P〈0.05）.Conclusion The HL-514C/T gene polymorphism may had negative correlation with type 2 DM,as well with IR in type 2 DM,while the HL-514 T allele may be a risk factor for patients with type 2 DM had high levels of TG.