胆囊结石病家系载脂蛋白E基因型分析

Analysis of Apolipoprotein E Genotype in 58 Pedigrees of Cholelithiasis

目的：探索上海地区胆囊结石病家系的特点和Ａｐｏ Ｅ基因型与该病发病的关系。方法：对５８个胆囊结石病家系（胆囊结石病人１５９例，正常家系成员６１人）进行临床调查并检测血脂水平，采用ＰＣＲ·ＲＦＬＰ方法分析Ａｐｏ Ｅ基因型。结果：胆囊结石病有明显的家族聚集性，体重指数是家系成员发病的高危因素，Ａｐｏ Ｅ等位基因的频率分布为ε２（５．９％、ε３（８３．２％）和ε４（１０．９％，在胆石组中，Ｅ２／３基因型的血清ＡｐｏＢ浓度显著低于其他基因型，胆石组Ｅ２／３频率显著高于非胆石组（Ｐ＜０．０１）。结论：胆囊结石病家系中，不同Ａｐｏ Ｅ基因型的患者有不同的血脂变化特征，Ｅ２／３基因型可能是家系成员发病的一个危险因素。

Objective: To explore the characteristics of cholelithiasis pedigrees in Shanghai and to analyze the relationship between cholelithiasis and apolipoprotein E(Aop E) genotype. Methods: Fifty-eight pedigrees including 159 patients with gallstoneand 61 subjects without gallstone were investigated. The plasma lipids were measured and Apo E genotype was detected by PCR-RFLP simultaneously. Results: The distribution of cholelithiasis in the pedigrees demonstrated significant familial aggregation. The body weight index and dyslipidemia were risk factors in the lithogenesis of cholelithiasis. The distribution of allelic frequencies were ε2(5.9%), ε3(83.2%) and ε4(10.9%). The levels of Apo B were significantly lower in E2/3 patients than those in other patients. The frequencies of E2/3 was much higher in patients than those in controls(P<0.01). Conclusions: In cholelithiasis pedigrees, the patients with different Apo E genotypes have different characteristics of dyslipidemia. The E2/3 genotype might be a genetic risk factor of cholelithiasis among the members of the pedigrees.