一个大型胆囊结石病家系的遗传特征及流行病学分析

Study on the characteristics of inheritance and epidemiology in one pedigree with gallstone disease

目的调查某胆囊结石(胆石)病家系的遗传特点及流行病学特征。方法对该家系进行问卷调查、体格检查及实验室检查。结果该家系四代共113人(男55人,女58人),胆石患者33例(男13例,女20例),女性发病率(34.48%)高于男性(23.64%),但差异无统计学意义。和先证者有血缘关系的亲属中Ⅱ、Ⅲ代发病率52%,明显高于配偶的发病率(20%),P=0.003。先证者Ⅰ级亲属遗传度86.38%±46.46%。患者平均体重指数(25.06±2.59)kg/m2,显著高于非胆石病者平均体重指数(22.69±3.24)kg/m2,P=0.012。胆石病患者中有高血压、高血脂病史者明显多于非胆石病者,差异有统计学意义,P值分别为<0.01和0.017。糖尿病病史、饮酒习惯、喜油腻饮食在胆石病患者和非胆石病者中无差异。胆石病患者血糖平均值(5.35±0.77)mmol/L。血胆固醇和甘油三酯在胆石病患者和非胆石病者中无差异。结论该家系胆石病具有明显家族聚集性,符合常染色体显性遗传特点;性别、肥胖、高血压和高血脂病史是该家系的危险因素。

Objective To study the characteristics of inheritance and epidemiology of gallstone disease in one pedigree. Methods A gallbladder disease-specific questionnaire was administered to all family members to ascertain histories of cholecystectomy and other medical conditions as well as anthropometrical data. Laboratory examination and ultrasonogrophy were performed to determine the existence of gallstone. Results One hundred and thirteen members of four generations in the index family were enrolled in the study. The prevalence of gallstone in females( 34.48%) was higher than in males( 23.64%) but with no significant difference. The prevalence in the second and third generations (52%) was higher than in others (20%) ( P< 0.05). The heritability and standard error showed as 86.38%± 46.46% in Ⅰ generations. Body mass index,histories of hypertension,hyperlipidemia and blood glucose were positively related to gallstone disease ( P= 0.012, <0.01, 0.017, 0.043,respectively) in this family. Gallstone disease was not significantly related to history of diabetes,daily alcohol or diet habit. Plasma cholesterol and triglyceride levels were not correlated with gallstone disease. Conclusion Gallstone disease presented aggregation in the family and was in accordance with the characteristics of autosomal dominant inheritance. Being female,obesity, hypertension and history of hyperlipidemia might serve as risk factors to this family.