Liu Yaqi, Zhai Chengkai, Cao Pei, Zheng Yanze, Zhou Siyu, Chi Jing
School of Public Health, Southeast University, Nanjing 210009, China.
Wei Sheng Yan Jiu. 2011 Jul;40(4):461-4.
To learn the gene distribution of fatty acid binding protein gene (FABP2) and the mutation frequency of wild type A54T in FABP2 gene in the people with abnormal lipid metabolism to detect from molecular level the relationship between FABP2 gene polymorphism and metabolic disorder of lipids, and to investigate genetic factors and the pathogenesis of lipid metabolic disorders in the middle aged and aged people.
The polymorphism of FABP2 gene was analyzed by RELP (Restriction fragment length polymorphism) technique. The relationship between FABP2 polymorphism and the risk of dyslipidemia in 410 middle aged and aged people was investigated.
Mutation frequency of FABP2 gene in the people with dyslipidemia was 71.9%, significantly higher than that in the people with normal blood lipids (P < 0.05). Compared with individuals with wild type homozygote (Ala54/Ala54), the serum TC and TG of individuals with mutational heterozygote (Ala54/Thr54) or mutational homozygote (Thr54/Thr54) were distinctly higher, and serum HDL-C of them were distinctly lower (P < 0.05).
FABP2 gene polymorphism might be one of factors for genetic susceptibility in metabolic disorder of lipids. The risk of occurring lipid metabolic disorders in individuals carrying mutational FABP2 gene (Ala54/Thr54, Thr54/Thr54) might be higher than those carrying wild type homozygote (Ala54/ Ala54) while exposed to the same environment.
了解脂肪酸结合蛋白基因（FABP2）在脂代谢异常人群中的基因分布及该基因野生型A54T的突变频率，从分子水平检测FABP2基因多态性与脂代谢紊乱的关系，探讨中老年人群脂代谢紊乱的遗传因素及发病机制。
采用限制性片段长度多态性（RELP）技术分析FABP2基因多态性。调查410例中老年人群中FABP2多态性与血脂异常风险的关系。
血脂异常人群中FABP2基因的突变频率为71.9%，显著高于血脂正常人群（P<0.05）。与野生型纯合子（Ala54/Ala54）个体相比，突变杂合子（Ala54/Thr54）或突变纯合子（Thr54/Thr54）个体的血清总胆固醇（TC）和甘油三酯（TG）明显升高，血清高密度脂蛋白胆固醇（HDL-C）明显降低（P<0.05）。
FABP2基因多态性可能是脂代谢紊乱遗传易感性的因素之一。在相同环境下，携带突变型FABP2基因（Ala54/Thr54、Thr54/Thr54）的个体发生脂代谢紊乱的风险可能高于携带野生型纯合子（Ala54/Ala54）的个体。
