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目的了解血脂异常人群小肠型脂肪酸结合蛋白(FABP2)基因分布及FABP2基因野生型A54T的突变频率,探讨FABP2基因A54T多态性与脂代谢紊乱的关系,从分子水平阐述中老年人群脂代谢紊乱的遗传学因素及发病机制。方法运用聚合酶链反应-限制性内切酶片段长度多态性(PCR-RFLP)技术,对南京市区长住居民中的410名汉族中老年人进行FABP2基因A54T多态性进行分析,其中血脂异常196人,血脂正常214人,探讨其与中老年人群脂代谢紊乱的相关性。结果 Ala54/Thr54基因型人群(OR=2.07,95%CI:1.322-3.202,P=0.001)和Thr54/Thr54基因型人群(OR=1.78,95%CI:1.022-3.101,P=0.041)脂代谢紊乱的危险性增高,差异有统计学意义(P<0.05)。且Ala54/Thr54和Thr54/Thr54型基因人群血清TG和TC水平显著高于野生型Ala54/Ala54基因人群,HDL-C水平显著低于Ala54/Ala54型基因人群(P<0.05)。结论脂代谢紊乱是环境和基因共同作用的结果,FABP2基因多态性可能是脂代谢紊乱发生的遗传易感因素之一;携带FABP2基因突变型的个体,较暴露于同样环境中的野生型基因携带者,发生脂质代谢紊乱的风险增高。
Objective To investigate the distribution of small intestinal fatty acid binding protein (FABP2) and mutation of FABP2 wild type A54T in patients with dyslipidemia, and to explore the relationship between AABF2 A54T polymorphism and lipid metabolism disorders. Genetics and pathogenesis. Methods The polymorphism of FABP2 gene A54T was detected in 410 middle-aged and elderly Han residents living in Nanjing using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) 196 cases of dyslipidemia, 214 cases of normal blood lipids, to explore the relationship between lipid metabolism and the elderly population. Results The lipid metabolism of the patients with Ala54 / Thr54 genotype (OR = 2.07, 95% CI: 1.322-3.202, P = 0.001) and Thr54 / Thr54 genotype (OR = 1.78,95% CI: 1.022-3.101, P = The risk of disorder increased, the difference was statistically significant (P <0.05). The levels of TG and TC in serum of Ala54 / Thr54 and Thr54 / Thr54 were significantly higher than those of wild type Ala54 / Ala54, and the level of HDL-C was significantly lower than that of Ala54 / Ala54 (P <0.05). Conclusion The disorder of lipid metabolism is the result of the combination of environment and gene. FABP2 gene polymorphism may be one of the genetic predisposing factors of lipid metabolism disorders. Individuals with FABP2 mutation may be more susceptible to exposure to the same environmental wild type gene Carriers, increased risk of lipid metabolism disorder.