PTEN基因ⅣS4多态性与脂代谢紊乱的关系

Association of PTEN ⅣS4 polymorphisms with lipid metabolism disorder

目的:探讨PTEN基因ⅣS4(rs3830675)多态性与川南地区汉人脂代谢紊乱的关系。方法:应用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)分析结合DNA测序方法,对431例样本进行PTEN基因ⅣS4多态性分析,其中脂代谢紊乱患者208例(脂代谢紊乱组),对照样本223例(对照组)。结果:PTEN基因ⅣS4基因型(-/-、-/+、+/+)在对照组和脂代谢紊乱组中分布具有统计学差异(P=0.039)。ⅣS4基因型+/+相对于基因型-/-和-/+以及等位基因+相对于等位基因-发病风险增加,OR值分别为1.768(95%CI:1.135～2.753,P=0.011)和1.480(95%CI:1.135～1.929,P=0.004)。另外,与基因型-/-和-/+比较,基因型+/+的平均总胆固醇(TC)水平显著增加(t=-2.349,P=0.020),平均低密度脂蛋白胆固醇(LDL-C)水平也显著增高(t=-2.767,P=0.006),其他检测指标无统计学差异。结论:PTEN基因ⅣS4+/+基因型和等位基因+是川南地区脂代谢紊乱的危险因素,其主要的关系可能与TC和LDL-C相关。

Objective To investigate the association of PTEN gene Ⅳ S4 polymorphisms with lipid metabolism disorder in the Han people who lives in southern Sichuan areas. Methods PTEN gene Ⅳ S4 polymorphisms were detected by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and DNA sequencing in 431 samples (208 from patients with dyslipidemia and 223 from control subjects ). Results The frequencies of ⅣS4 genotypes (- /-, - /+, and+/ + ) differed statistically between the control subjects and patients with lipid metabolism disorder (P=0.039). As compared with ⅣS4 genotypes-/ - and-/+and allele (+), genotype+/ + and allele (-) had an increased risk of lipid metabolism disorder [OR: 1.768, 95% CI: 1.135～2.753, P=0.011] and [OR: 1.480, 95%CI: 1.135～1.929, P=0.004). In addition, levels of TC and LDL-C were markedly higher in ⅣS4 genotype+/ + than genotypes-/ - and-/+(t =-2.349, P=0.020 and t=- 2.767, P=0.006). Conclusions PTEN ⅣS4 genotype+/ + and allele (+) are the risk factor of lipid metabolism disorder in southern Sichuan areas, which is mainly associated with TC and LDL-C.