FABP2,也称为脂肪酸结合蛋白2,是一种在肠上皮细胞中表达的蛋白质,主要负责运输游离脂肪酸。FABP2的表达受到饮食和代谢途径的调节,在脂肪代谢和能量平衡中发挥重要作用。FABP2的基因多态性与多种疾病的发生和发展有关,包括代谢综合征、心血管疾病、肥胖、高甘油三酯血症和某些类型的癌症。
FABP2在肠道干细胞(ISC)的更新中发挥重要作用。HNF4转录因子直接激活FAO基因,包括FABP2,从而支持ISC的更新。FABP2的表达水平与FAO活性和TCA循环代谢物水平呈正相关,而与脂肪酸合成转录水平呈负相关[1]。FABP2基因多态性会影响FABP2的表达和功能,进而影响脂肪代谢和能量平衡。
FABP2基因多态性与多种疾病的发生和发展有关。例如,FABP2基因的Ala54Thr多态性与代谢综合征和心血管疾病的发生风险增加有关[2,4]。FABP2基因的Ala54Thr多态性还会影响血脂水平,包括甘油三酯和HDL胆固醇水平[3]。此外,FABP2基因的Ala54Thr多态性还与肥胖、胰岛素抵抗和腹型肥胖有关[5,6]。
FABP2基因多态性还与某些类型的癌症的发生和发展有关。例如,FABP2基因的Ala54Thr多态性与结直肠癌的发生风险增加有关[2]。此外,FABP2基因的Ala54Thr多态性还与神经母细胞瘤的发生风险增加有关[4]。
综上所述,FABP2在脂肪代谢和能量平衡中发挥重要作用,其基因多态性与多种疾病的发生和发展有关。FABP2基因多态性可以作为疾病风险预测和个性化治疗的潜在生物标志物。
参考文献:
1. Chen, Lei, Vasoya, Roshan P, Toke, Natalie H, Su, Xiaoyang, Verzi, Michael P. 2019. HNF4 Regulates Fatty Acid Oxidation and Is Required for Renewal of Intestinal Stem Cells in Mice. In Gastroenterology, 158, 985-999.e9. doi:10.1053/j.gastro.2019.11.031. https://pubmed.ncbi.nlm.nih.gov/31759926/
2. Zhang, Zhu, Li, Haobo, Weng, Haoyi, Zhai, Zhenguo, Wang, Chen. 2023. Genome-wide association analyses identified novel susceptibility loci for pulmonary embolism among Han Chinese population. In BMC medicine, 21, 153. doi:10.1186/s12916-023-02844-4. https://pubmed.ncbi.nlm.nih.gov/37076872/
3. Turkovic, Lana Feher, Pizent, Alica, Dodig, Slavica, Pavlovic, Mladen, Pasalic, Daria. . FABP2 gene polymorphism and metabolic syndrome in elderly people of croatian descent. In Biochemia medica, 22, 217-24. doi:. https://pubmed.ncbi.nlm.nih.gov/22838187/
4. Wanby, P, Palmquist, P, Rydén, I, Brattström, L, Carlsson, M. . The FABP2 gene polymorphism in cerebrovascular disease. In Acta neurologica Scandinavica, 110, 355-60. doi:. https://pubmed.ncbi.nlm.nih.gov/15527447/
5. Han, Tae-Kyung, So, Wi-Young. . Effects of FABP2 Ala54Thr gene polymorphism on obesity and metabolic syndrome in middle-aged Korean women with abdominal obesity. In Central European journal of public health, 27, 37-43. doi:10.21101/cejph.a5077. https://pubmed.ncbi.nlm.nih.gov/30927395/
6. Larifla, Laurent, Rambhojan, Christine, Joannes, Marie-Odile, Roussel, Ronan, Foucan, Lydia. 2016. Gene Polymorphisms of FABP2, ADIPOQ and ANP and Risk of Hypertriglyceridemia and Metabolic Syndrome in Afro-Caribbeans. In PloS one, 11, e0163421. doi:10.1371/journal.pone.0163421. https://pubmed.ncbi.nlm.nih.gov/27684940/