Gilat T, Feldman C, Halpern Z, Dan M, Bar-Meir S
Gastroenterology. 1983 Feb;84(2):242-6.
Despite the very high prevalence of gallstone disease, studies of familial factors are very few, and asymptomatic family members were not studied. We studied, in a prospective manner, the frequency of gallstones in 171 first-degree relatives of patients with proven gallstones compared with 200 matched controls. All subjects were studied by oral cholecystography, and their height, weight, blood glucose, cholesterol, and other parameters were measured. Gallstones were found in 20.5% of the family group and in 9.0% of the control group. Gallstones were found in 22.8% of the female and 16.7% of the male family members as opposed to 10.3% of the female and 8.0% of the male controls. All these differences were statistically significant. Known risk factors, such as Ashkenazi community group, higher age, and overweight, were more frequent in the control group, as were blood glucose and cholesterol. These findings strengthen the validity of the twofold higher frequency of gallstones found in the family group and are likely to be due to genetic factors. A formal genetic family study of gallstone disease is now indicated, using the ultrasonic method.
尽管胆结石病的患病率极高，但关于家族因素的研究却非常少，而且未对无症状的家庭成员进行研究。我们以前瞻性的方式，对171名经证实患有胆结石患者的一级亲属与200名匹配的对照者进行了胆结石发病频率的研究。所有受试者均接受了口服胆囊造影检查，并测量了他们的身高、体重、血糖、胆固醇及其他参数。在家族组中，20.5%的人发现有胆结石，而对照组为9.0%。在家族组的女性成员中，22.8%发现有胆结石，男性成员中为16.7%，而对照组女性为10.3%，男性为8.0%。所有这些差异均具有统计学意义。已知的危险因素，如德系犹太人社区群体、较高年龄和超重，在对照组中更为常见，血糖和胆固醇情况也是如此。这些发现强化了家族组中胆结石发病频率高出两倍这一结果的有效性，并且很可能是由遗传因素导致的。现在表明需要采用超声方法对胆结石病进行正式的遗传家族研究。
