Department of Chemistry, Division of Biochemistry, Faculty of Science, Tanta University, Tanta, Egypt.
Department of Internal Medicine, Faculty of Medicine, Tanta University, Tanta, Egypt.
Asian Pac J Cancer Prev. 2020 Dec 1;21(12):3557-3565. doi: 10.31557/APJCP.2020.21.12.3557.
The relationship of leptin (LEP) and polymorphism of leptin receptor (LEPR) were studied in patients with hepatocellular carcinoma (HCC) and compared with those with liver cirrhosis to find out the extent of the risk of LEPR on patients with HCC.
Serum LEP level and LEPR Q223R gene polymorphism were determined in 300 patients with liver disease categorized equally into five groups' healthy volunteers, patients with hepatitis C (HCV), patients with non-alcoholic steatohepatitis (NASH), liver cirrhosis and HCC. LEPR gene was amplified by polymerase chain reaction (PCR) then digested by the MSP1 restriction enzyme.
The isolated 212 bp of LEPR was sequenced. The serum LEP level was reduced in patients with cirrhotic and HCC. Serum LEP level had negatively correlated with both tumor grade and size in HCC patients. The data obtained from restriction fragment length polymorphism‑PCR and sequencing revealed the existence of a novel synonymous Q223R single nucleotide polymorphism (SNP) in exon 223 of LEPR gene (1137101). LEPR Gln223Arg, GG and GA genotypes were found in all studied groups. LEPR Gln223Arg, AA genotype was found in NASH, HCC, and control. LEPR Gln223Arg GA genotype is associated with some patients with HCC.
GA genotype of LEPR Gln223Arg may be regarded as a probable genetic risk factor for Egyptian patients with HCC.
本研究旨在探讨瘦素（LEP）及其受体（LEPR）基因多态性与肝细胞癌（HCC）的关系，并与肝硬化患者进行比较，以明确 LEPR 基因多态性对 HCC 发病风险的影响。
采用聚合酶链反应（PCR）-限制性片段长度多态性（MSP1）方法检测 300 例不同肝脏疾病患者（健康对照组、丙型肝炎组、非酒精性脂肪性肝炎组、肝硬化组和 HCC 组）LEPR Q223R 基因多态性和血清瘦素水平，PCR 产物经 MSP1 酶切后电泳，对酶切产物进行测序。
成功扩增出 212 bp 的 LEPR 基因片段，测序结果证实 LEPR 基因存在一个新的同义 SNP（1137101），即第 223 位密码子的 G 突变为 A，导致编码的氨基酸由 Gln（谷氨酰胺）变为 Arg（精氨酸）。血清 LEP 水平在肝硬化和 HCC 患者中降低，且与肿瘤分级和大小呈负相关。
LEPR Q223R 基因 GA 基因型可能是埃及 HCC 的遗传危险因素。
