Hassan Nayera E, El-Masry Sahar A, Zarouk Waheba, El Banna Rokia A, Mosaad Rehab M, Al-Tohamy Muhammad, Salamah Abeer Ramadan
Biological Anthropology Department, Medical Research Division, National Research Centre, Giza, Egypt.
Molecular Genetics and Enzymology Department, Human Genetics and Genomic Research Division, National Research Centre, Giza, Egypt.
Genes Dis. 2017 Dec 18;5(2):150-157. doi: 10.1016/j.gendis.2017.12.004. eCollection 2018 Jun.
Obesity is complex heterogeneous disease controlled by genes, environmental factors, and their interaction. Genetic factors account for 40-90% of the body mass index variations. Body mass index (BMI) of children correlates more closely with maternal than paternal BMI. So, this studu was aimed to investigate the role of leptin receptor LEPR Gln223Arg, the uncoupling protein 2 (UCP2 G 866 A) and insulin receptor gene (INSR exon 17) polymorphisms in the pathogenesis of obesity. A cross-sectional study executed on 130 children and their obese mothers; classified into 2 groups according to their BMI. The 2 groups were evaluated regarding the anthropometry. Restriction fragment length analysis for LEPR Gln223Arg, UCP2 -866 G/A and INSR exon 17 polymorphisms were applied. It was reported that increased risk of obesity was found in LEPR AG + AA genotype and the A allele. Significant statistical difference was detected only in female children. Concerning UCP2, the AG followed by the GG genotype was the most frequent in all groups and the G allele was the mostly present in obese mothers and obese male children but with no statistical significance. There was difference in the INSR genotype and alleles between groups, but this difference was not statistically significant. This study concluded that the LEPR Gln223Arg, UCP2 G 866 A and INSR exon 17 polymorphisms are related to obesity in Egyptian population. Further researches on larger population are recommended to ascertain the implications of LEPR, UCP2 and INSR polymorphisms in obesity.
肥胖是一种由基因、环境因素及其相互作用控制的复杂异质性疾病。遗传因素占体重指数变异的40 - 90%。儿童的体重指数与母亲的体重指数比与父亲的体重指数相关性更强。因此，本研究旨在探讨瘦素受体LEPR Gln223Arg、解偶联蛋白2（UCP2 G 866 A）和胰岛素受体基因（INSR外显子17）多态性在肥胖发病机制中的作用。对130名儿童及其肥胖母亲进行了一项横断面研究；根据他们的体重指数分为两组。对两组进行人体测量评估。应用了对LEPR Gln223Arg、UCP2 -866 G/A和INSR外显子17多态性的限制性片段长度分析。据报道，在LEPR AG + AA基因型和A等位基因中发现肥胖风险增加。仅在女童中检测到显著的统计学差异。关于UCP2，AG基因型后接GG基因型在所有组中最常见，G等位基因在肥胖母亲和肥胖男童中最常见，但无统计学意义。两组之间INSR基因型和等位基因存在差异，但这种差异无统计学意义。本研究得出结论，LEPR Gln223Arg、UCP2 G 866 A和INSR外显子17多态性与埃及人群的肥胖有关。建议对更大规模人群进行进一步研究，以确定LEPR、UCP2和INSR多态性在肥胖中的影响。
