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-514 C/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-514 T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 promoter 514C/T polymor-phism, 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 ca-ses of type 2 DM patients (DM group) and normal glucose tolerance in 197 healthy subjects (group NC) were enrolled and underwent for HL-514 C/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%, 2 groups 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 the 2 groups ( P <0.05), the difference of rest indices were not statistically significant ( P >0.05).(3)The differences of rele-vant indices of C/T+T/T genotype and C/C genotype patients'IR were not significantly ( P >0.05).(4) Logistic regression analysis showed that , DM group's HL-514 C/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 poly-morphism may had negative correlation with type 2 DM, as well with IR in type 2 DM, while the HL-514T allele may be a risk factor for patients with type 2 DM had high levels of TG .
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