Abdu Allah Azza M, Hammoudah Sahar Af, Abd El Gayed Eman Masoud, El-Attar Lama Mohamed, Shehab-Eldin Walid A
Medical Biochemistry and Molecular Biology, Faculty of Medicine, Menoufia University, Al Minufiyah, Egypt.
Clinical Pathology, Faculty of Medicine, Tanta University, Tanta, Egypt.
Protein Pept Lett. 2018;25(6):560-569. doi: 10.2174/0929866525666180508120653.
Irisin; a novel myokine/adipokine; encoded by FNDC5 gene have been suggested to play an important role in energy metabolism and obesity. However, the genetic variations at this locus and their effects on different metabolic parameters is still poorly understood.
This study aimed to investigate the role of FNDC5/irisin gene polymorphisms (RS16835198 and RS726344) in obese individuals and their genotype phenotype correlation with circulating serum irisin level and other biochemical parameters like glucose, lipid metabolism and liver enzymes.
The study included 200 subjects divided into two groups: obese group (110 subject) and control non obese group (90 subject). All selected individuals were subjected to a comprehensive questionnaire, clinical assessment and laboratory investigations including fasting blood glucose (FBS), serum insulin, lipid profile (Total Cholesterol (TC), Triglycerides (TG), Low Density Lipoprotein (LDLc), High Density Lipoprotein (HDLc), liver enzymes (ALT, AST, GGT), Serum irisin level and HOMA-IR was calculated. DNA extraction and FNDC5 allelic discrimination analysis for FNDC5 SNPs, rs16835198and rs726344 using the TaqMan SNP genotyping assays by Real time PCR.
In obese group; serum irisin was significantly lower (0.55 ± 0.2) than control group (1.7 ± 0.3) P value < 0.001. Regarding genotype and allele frequency, T allele of rs16835198 polymorphism is associated with high BMI, high total cholesterol, TG and LDL-C, low level of serum HDL-C, high FBS, low serum insulin, low HOMA-IR and low serum level of irisin. While G allele of rs726344 is significantly associated with high BMI, FBS, low serum insulin and HOMA-IR, High total cholesterol, TG, LDL-C, low level of HDL-C and low serum irisin.
Our data suggest that FNDC5 SNPs, rs16835198and rs726344 are associated with obesity in Egyptian population. GG genotype and G allele of rs726344 variant and TT genotype and T allele of rs16835198 variant may increase the susceptibility to obesity and there were a genotype phenotype correlation with circulating serum irisin and several metabolic parameters.
鸢尾素是一种由FNDC5基因编码的新型肌动蛋白/脂肪因子,被认为在能量代谢和肥胖中发挥重要作用。然而,该基因座的遗传变异及其对不同代谢参数的影响仍知之甚少。
本研究旨在探讨FNDC5/鸢尾素基因多态性(RS16835198和RS726344)在肥胖个体中的作用,以及它们的基因型与循环血清鸢尾素水平和其他生化参数(如葡萄糖、脂质代谢和肝酶)的表型相关性。
该研究纳入200名受试者,分为两组:肥胖组(110名受试者)和非肥胖对照组(90名受试者)。所有入选个体均接受综合问卷调查、临床评估和实验室检查,包括空腹血糖(FBS)、血清胰岛素、血脂谱(总胆固醇(TC)、甘油三酯(TG)、低密度脂蛋白(LDLc)、高密度脂蛋白(HDLc))、肝酶(ALT、AST、GGT),计算血清鸢尾素水平和HOMA-IR。采用实时荧光定量PCR技术,通过TaqMan SNP基因分型检测试剂盒对FNDC5基因的单核苷酸多态性(SNP)rs16835198和rs726344进行DNA提取和等位基因鉴别分析。
在肥胖组中,血清鸢尾素水平(0.55±0.2)显著低于对照组(1.7±0.3),P值<0.001。关于基因型和等位基因频率,rs16835198多态性的T等位基因与高BMI、高总胆固醇、TG和LDL-C、低血清HDL-C水平、高FBS、低血清胰岛素、低HOMA-IR和低血清鸢尾素水平相关。而rs726344的G等位基因与高BMI、FBS、低血清胰岛素和HOMA-IR、高总胆固醇、TG、LDL-C、低HDL-C水平和低血清鸢尾素显著相关。
我们的数据表明,FNDC5基因的SNP rs16835198和rs726344与埃及人群的肥胖有关。rs726344变异的GG基因型和G等位基因以及rs16835198变异的TT基因型和T等位基因可能增加肥胖易感性,并且基因型与循环血清鸢尾素和多个代谢参数之间存在表型相关性。