BCL11A rs243021多态性与代谢相关脂肪性肝病易感性的关系

Association of the BCL11A rs243021 Polymorphism with Susceptibility to Metabolic Dysfunction-Associated Fatty Liver Disease

摘要: 目的：探讨中国青岛地区Ｂ细胞淋巴瘤/白血病11A (BCL11A)基因rs243021位点多态性与代谢相关脂肪性肝病(MAFLD)疾病易感性的关系。方法：纳入于青岛市市立医院就诊的MAFLD患者215例、健康对照159例，收集所有受试者的临床信息和生化指标，进行生化指标的临床检测及基因组DNA的提取和BCL11A rs243021位点基因型测定。计数资料比较采用Pearson χ²检验，计量资料根据其符合正态分布与否分别采用独立样本t检验或Wilcoxon秩和检验。应用非条件logistic回归模型进行位点多态性与疾病风险分析。结果：MAFLD组和健康对照组之间比较BCL11A rs243021位点的基因型分布和等位基因分布差异均无统计学意义(P > 0.05)。在A等位基因携带者与非携带者之间进行比较，各临床资料和实验室指标差异均无统计学意义(P > 0.05)。结论：青岛地区汉族人群中BCL11A rs243021多态性与MAFLD易感性无显著相关。

Abstract: Objective: To investigate the association between the B-cell lymphoma/leukemia 11A(BCL11A) rs243021 polymorphism and susceptibility to metabolic dysfunction-associated fatty liver disease (MAFLD) in the Qingdao region of China. Methods: A total of 215 MAFLD patients and 159 healthy controls were recruited from Qingdao Municipal Hospital. Demographic and laboratory data were recorded for all subjects. Clinical biochemical testing, genomic DNA extraction, and genotyping of the BCL11A rs243021 locus were conducted. Categorical variables were compared using Pearson’s chi-square test, while continuous variables were tested for normality and then compared by either an independent samples t-test or a Wilcoxon rank-sum test, as appropriate. Unconditional logistic regression models were used to analyze the association between genetic polymorphisms and disease risk. Results: There were no significant differences in genotype or allele frequencies between the MAFLD and control groups (both P > 0.05). When comparing carriers and non-carriers of the A allele, no statistically significant differences were observed in clinical and laboratory parameters (both P > 0.05). Conclusion: In the Han Chinese population of Qingdao, the BCL11A rs243021 polymorphism was not significantly associated with MAFLD susceptibility.