Wang Baifang, Wang Bingyuan, Wang Ying, Wen Bo, Liu Shu, Sang Lixuan, Chen Yushuai, Zhang Dai
Clin Lab. 2015;61(11):1659-66. doi: 10.7754/clin.lab.2015.150417.
The adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1 (APPL1) has been suggested to play an important role in the pathogenesis of non-alcoholic fatty liver disease (NAFLD). The aim of this article is to explore the relationship between APPL1 rs4640525 polymorphism and the susceptibility of NAFLD in a Chinese Han population.
In this study, rs4640525, a significant single nucleotide polymorphism, in the APPL1 gene was detected by the polymerase chain reaction-restriction fragment length polymorphism method, followed by extracting genomic DNA from peripheral blood leukocytes from patients with NAFLD (n = 280) and matched controls (n = 281).
The frequency of both the GG genotype and the G carrier (CG+GG) genotype were higher in NAFLD subjects compared with control subjects (all p < 0.05). The G allele frequency was 0.3036 in the NAFLD group and 0.2206 in the control group, showing a significant difference (p < 0.05). What is more, multivariate logistic regression analysis suggested that the GG genotype, G carrier genotype, body mass index, waist circumference, white blood cells, total cholesterol, alanine aminotransferase, and γ-glutamyl-transferase might be associated with an increased susceptibility of NAFLD (all p < 0.05).
The article provides evidence that GG genotype and G carrier (CG+GG) genotypes of the rs4640525 polymorphism in the APPL1 gene may be suitable susceptibility biomarkers for NAFLD.
衔接蛋白、磷酸酪氨酸相互作用、PH结构域和亮氨酸拉链包含蛋白1（APPL1）被认为在非酒精性脂肪性肝病（NAFLD）的发病机制中起重要作用。本文旨在探讨中国汉族人群中APPL1基因rs4640525多态性与NAFLD易感性之间的关系。
在本研究中，采用聚合酶链反应-限制性片段长度多态性方法检测APPL1基因中一个显著的单核苷酸多态性rs4640525，随后从NAFLD患者（n = 280）和匹配的对照组（n = 281）的外周血白细胞中提取基因组DNA。
与对照组相比，NAFLD患者中GG基因型和G携带者（CG + GG）基因型的频率均更高（所有p < 0.05）。NAFLD组的G等位基因频率为0.3036，对照组为0.2206，差异有统计学意义（p < 0.05）。此外，多因素逻辑回归分析表明，GG基因型、G携带者基因型、体重指数、腰围、白细胞、总胆固醇、丙氨酸氨基转移酶和γ-谷氨酰转移酶可能与NAFLD易感性增加有关（所有p < 0.05）。
本文提供的证据表明，APPL1基因rs4640525多态性的GG基因型和G携带者（CG + GG）基因型可能是NAFLD合适的易感性生物标志物。
