Chen Jing, He Jie, Chen Jiang-Hui, Lai Zhen-Bin, Cheng Qi-Jun, Yu Xiao-Shan, Liu Hui-Fen, Su Yan-Hua, Zhao Ben-Hua
Department of Preventive Medicine, School of Public Health, Xiamen University, Xiamen 361102, China.
Department of Gastroenterology, Second Hospital of Xiamen, Xiamen 361021, China.
Sichuan Da Xue Xue Bao Yi Xue Ban. 2017 May;48(3):410-417.
To determine the associations of single nucleotide polymorphism (SNP) in leptin () genes and environmental factors with cholesterol gallstone in southeast Han populations.
A 1:2 matched case-control study was conducted involving 200 patients with cholesterol gallstone. Genotyping of the SNP was examined on the LightCycler480 PCR platform using in-house high resolution melting (HRM) approaches. Detection correctness was validated through direct sequencing. Multifactor dimensionality reduction (MDR) analysis was applied to examine the effects of potential gene-environment interactions.
Three genotypes of G2548A were obtained by HRM genotyping, including 52 cases of GG wild type, 192 cases of GA mutant heterozygosity and 356 cases of AA mutation homozygous type. The genotype distribution of the SNP locus in the control group was in line with the Hardy-Weinberg genetic balance (>0.05). The AA genotype carriers of G2548A had significantly higher serum leptin than the GA/GG genotype carriers (=6.83, <0.05). The conditional logistic regression revealed that high serum leptin [odds ratio ()=5.012, 95% confidence interval (): 3.248-7.734], AA genotype of G2548A site (=2.292, 95%: 1.012-5.193), family history of gallstones (=2.984, 95%: 1.329-6.700), high SBP (=1.927, 95%: 1.140-3.255) and smoking (=1.717, 95%: 1.006-2.928) were predictors of cholesterol gallstone. However, regular drinking of strong tea (=0.552, 95%: 0.336-0.907) and exercise (=0.591, 95%: 0.395-0.882) were protecting factors for cholesterol gallstone. The results of MDR analysis indicated that tea drinking, genotype of G2548A site and serum leptin formed the optimal gene-environment interaction model.
Individuals who drink less tea, carry AA genotype and have high serum leptin are more susceptible to cholesterol gallstone.
确定瘦素（）基因单核苷酸多态性（SNP）及环境因素与东南汉族人群胆固醇结石的关联。
进行一项1:2匹配的病例对照研究，纳入200例胆固醇结石患者。使用内部高分辨率熔解（HRM）方法在LightCycler480 PCR平台上对SNP进行基因分型。通过直接测序验证检测的正确性。应用多因素降维（MDR）分析来检验潜在基因 - 环境相互作用的影响。
通过HRM基因分型获得了G2548A的三种基因型，包括52例GG野生型、192例GA突变杂合型和356例AA突变纯合型。SNP位点在对照组中的基因型分布符合Hardy - Weinberg遗传平衡（>0.05）。G2548A的AA基因型携带者的血清瘦素水平显著高于GA/GG基因型携带者（=6.83，<0.05）。条件逻辑回归显示，高血清瘦素[优势比（）=5.012，95%置信区间（）：3.248 - 7.734]、G2548A位点的AA基因型（=2.292，95%：1.012 - 5.193）、胆结石家族史（=2.984，95%：1.329 - 6.700）、高收缩压（=1.927，95%：1.140 - 3.255）和吸烟（=1.717，95%：1.006 - 2.928）是胆固醇结石的预测因素。然而，经常饮用浓茶（=0.552，95%：0.336 - 0.907）和运动（=0.591，95%：0.395 - 0.882）是胆固醇结石的保护因素。MDR分析结果表明，饮茶、G2548A位点基因型和血清瘦素形成了最佳的基因 - 环境相互作用模型。
饮茶少、携带AA基因型且血清瘦素水平高的个体更易患胆固醇结石。
