Leoci C, Chiloiro M, Guerra V, Misciagna G
Laboratorio di Epidemiologia e Biostatistica, IRCCS S. De Bellis, Ospedale Gastroenterologica, Castellana Bari.
Minerva Gastroenterol Dietol. 1991 Jan-Mar;37(1):35-9.
Aim of this study is to evaluate the familial risk of cholelithiasis in non hospitalized subjects with and without gallstones. A population sample of 2.472 subjects was examined by echography for gallstones; 220 subjects (92 males and 128 females) had gallstones or had already been cholecystectomized for gallstones. These cases and an equal number of controls were interrogated about the diagnosis of gallstones in their family using a standardized questionnaire. The comparison of the frequency of symptomatic gallstones and cholecystectomies for gallstones in the relatives of cases and controls showed an increase of the relative risk of gallstones in sons of parents with cholelithiasis (OR 2.9, CI 95% 1.2-8.0) and in siblings of subjects with cholelithiasis (if sister with gallstones: OR 2.4, CI 95% 1.05-5.6; if brother with gallstones: OR 2.9, CI 95% 0.6-14.6). The stratification for sex of cases and controls, however, pointed out that the risk increased only in daughters and sisters of subjects with gallstones. There was no statistically significant difference of frequency of gallstones between spouses of cases and controls (chi square, p greater than 0.05). The results of this study confirm that there is a familial risk of gallstones, even if it is evident only in the female relatives of subjects with gallstones, and suggest that probably the main cause of this risk is genetic and not environmental.
本研究的目的是评估非住院的有或无胆结石受试者患胆结石的家族风险。对2472名受试者的人群样本进行了胆结石超声检查；220名受试者（92名男性和128名女性）患有胆结石或已因胆结石接受胆囊切除术。使用标准化问卷就其家族中胆结石的诊断情况对这些病例和相同数量的对照进行询问。病例组和对照组亲属中症状性胆结石和因胆结石进行胆囊切除术的频率比较显示，胆结石患者的儿子患胆结石的相对风险增加（比值比2.9，95%可信区间1.2 - 8.0），胆结石患者的兄弟姐妹也增加（如果姐妹患有胆结石：比值比2.4，95%可信区间1.05 - 5.6；如果兄弟患有胆结石：比值比2.9，95%可信区间0.6 - 14.6）。然而，按病例组和对照组的性别分层指出，风险仅在患有胆结石的受试者的女儿和姐妹中增加。病例组和对照组的配偶之间胆结石的频率没有统计学上的显著差异（卡方检验，p大于0.05）。本研究结果证实存在胆结石的家族风险，即使仅在患有胆结石的受试者的女性亲属中明显，并表明这种风险的主要原因可能是遗传而非环境因素。
