IGF1 rs5742612多态性与代谢功能障碍相关脂肪性肝病发病风险的关联研究

Association between IGF1 rs5742612 Polymorphism and the Risk of Metabolic Dysfunction-Associated Fatty Liver Disease

摘要: 目的：研究IGF1 rs5742612位点的基因多态性与中国青岛地区汉族人群中MASLD发病风险之间的相关性。方法：纳入2022年12月到2023年12月于青岛市市立医院就诊的确诊为MASLD的中国汉族患者205人作为研究的病例组；同时纳入130名健康体检者作为对照组。收集纳入研究的患者的基本临床信息，进行生化指标的临床检测及基因组DNA的提取和IGF1 rs5742612位点基因型测定。利用χ²检验来检验两组间基因型频率和等位基因频率是否存在差异。基于显性和隐性模型，采用Logistic回归分析基因型和等位基因与疾病发生风险的关联。结果：IGF1 rs5742612位点基因型频率(χ² = 0.286, P = 0.867)和等位基因频率(χ² = 0.083, P = 0.773)在两组之间的分布无统计学差异。显性和隐性模型均提示该位点与MASLD之间关联不存在统计学意义(P均 < 0.05)。不同等位基因携带者基本信息及生化指标间无统计学差异(P均 > 0.05)。结论：IGF1 rs5742612多态性与MASLD发病无显著相关性。

Abstract: Objective: To investigate the correlation between genetic polymorphisms at the IGF1 rs5742612 locus and the risk of developing MASLD in the Han Chinese population in Qingdao, China. Methods: A total of 205 Chinese Han patients diagnosed with MASLD who attended Qingdao Municipal Hospital from December 2022 to December 2023 were included as the case group of the study;130 healthy medical check-ups were also included as the control group. The basic clinical information of the patients included in the study was collected, and clinical tests of biochemical indexes as well as genomic DNA extraction and genotyping at the IGF1 rs5742612 locus were performed. The χ² test was used to test whether there were differences in genotype frequencies and allele frequencies between the two groups. Based on the dominant and recessive models, logistic regression was used to analyse the association between genotype and allele and the risk of disease occurrence. Results: The distribution of genotype frequencies (χ² = 0.286, P = 0.867) and allele frequencies (χ² = 0.083, P = 0.773) at the IGF1 rs5742612 locus were not statistically different between the two groups. Both dominant and recessive models suggested that the association between this locus and MASLD was not statistically significant (both P < 0.05). There was no statistical difference between the basic information and biochemical indexes of different allele carriers (all P > 0.05). Conclusion: There was no significant correlation between IGF1 rs5742612 polymorphism and the development of MASLD.