University of Mohaghegh Ardabili Faculty of Science Department of Biology Ardabil Iran Department of Biology, Faculty of Science, University of Mohaghegh Ardabili, Ardabil, Iran.
Shahid Beheshti University of Medical Sciences Research Institute for Gastroenterology and Liver Diseases Gastroenterology and Liver Diseases Research Center Tehran Iran Gastroenterology and Liver Diseases Research Center, Research Institute for Gastroenterology and Liver Diseases, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Arch Endocrinol Metab. 2024 Aug 26;68:e230216. doi: 10.20945/2359-4292-2023-0216. eCollection 2024.
This study was designed to investigate the possible effect of the insulin receptor substrate 1 gene rs1801276 polymorphism on the risk of nonalcoholic fatty liver disease (NAFLD).
The rs1801276 polymorphism was investigated in 127 controls and 123 biopsy-proven NAFLD patients using PCR-RFLP.
No deviation from Hardy-Weinberg equilibrium was discovered for the rs1801276 variant of in either NAFLD patients or controls (>0.05). The distribution of different rs1801276 genotypes and alleles showed significant variations between controls and NAFLD patients. In comparison to rs1801276 'CC' genotype, the "GG+GC" genotype occurred less frequently in NAFLD patients than in controls, which also persisted after adjustment for confounding factors ( = 0.041, OR = 0.60, 95% CI = 0.45-0.93). In comparison with the rs1801276 "C" allele, the "G" allele was significantly less prevalent in NAFLD patients than in controls ( = 0.045, OR = 0.69, 95% CI = 0.58-0.91).
For the first time, we reported a significant association between the rs1801276 polymorphism and biopsy-proven NAFLD. More studies are required to further elucidate the contribution of the gene to NAFLD susceptibility.
本研究旨在探讨胰岛素受体底物 1 基因 rs1801276 多态性对非酒精性脂肪性肝病（NAFLD）风险的可能影响。
采用 PCR-RFLP 法对 127 例对照和 123 例经肝活检证实的 NAFLD 患者进行 rs1801276 多态性检测。
在 NAFLD 患者和对照组中，rs1801276 变体均未偏离 Hardy-Weinberg 平衡（>0.05）。不同 rs1801276 基因型和等位基因的分布在对照组和 NAFLD 患者之间存在显著差异。与 rs1801276“CC”基因型相比，“GG+GC”基因型在 NAFLD 患者中比在对照组中发生的频率较低，在调整混杂因素后仍然如此（=0.041，OR=0.60，95%CI=0.45-0.93）。与 rs1801276“C”等位基因相比，“G”等位基因在 NAFLD 患者中明显较对照组少见（=0.045，OR=0.69，95%CI=0.58-0.91）。
我们首次报道了 rs1801276 多态性与经肝活检证实的 NAFLD 之间存在显著关联。需要进一步的研究来阐明 基因对 NAFLD 易感性的贡献。
