Basta M, Morton N E, Mulvihill J J, Radovanović Z, Radojicić C, Marinković D
Department of Pediatric Surgery, Mother and Child Health Institute, Belgrade.
Am J Hum Genet. 1990 Feb;46(2):377-82.
We explored familiality as well as the heritability and possible mode(s) of inheritance of acute appendicitis in childhood and early adolescence. Our case-control study showed that a positive family history for reported appendectomy was significantly more frequent in families of 80 consecutive patients eventually proved to have histopathologic acute appendicitis than in families of surgical controls matched for sex, age, and number of siblings. The relative risk was 10.0 (95% confidence limits 4.7-21.4). The pattern of familial aggregation was further supported by the fact that the age-standardized morbidity ratio was four times greater among family members of cases than among controls. We then applied the unified mixed model of segregation analysis, as implemented in the computer program POINTER, to a new set of 100 multigenerational pedigrees of children with histopathologically confirmed acute appendicitis that were broken down into 674 nuclear families. Age-specific morbidity risk and lifetime incidence of acute appendicitis were estimated from relatives of controls matched for age and sex to probands. Complex segregation analysis supported a polygenic or multifactorial model with a total heritability of 56%. There was no evidence to support a major gene, although a rare gene could not be ruled out as the cause of a small proportion of cases. Specific studies to address genetic and environmental factors in this serious disease seem worthwhile; but, for now, a positive family history of appendicitis might join other evidence leading to improved clinical recognition of acute appendicitis.
我们探讨了儿童期和青春期早期急性阑尾炎的家族聚集性、遗传度及可能的遗传模式。我们的病例对照研究表明，在最终经组织病理学证实患有急性阑尾炎的80例连续患者的家庭中，有阑尾切除术报告的阳性家族史显著多于按性别、年龄和兄弟姐妹数量匹配的手术对照组家庭。相对风险为10.0（95%置信区间4.7 - 21.4）。病例家庭成员的年龄标准化发病率比对照组高四倍这一事实进一步支持了家族聚集模式。然后，我们将计算机程序POINTER中实施的统一混合分离分析模型应用于一组新的100个多代谱系，这些谱系来自组织病理学确诊为急性阑尾炎的儿童，共分为674个核心家庭。根据与先证者年龄和性别匹配的对照组亲属估计特定年龄的发病风险和急性阑尾炎的终生发病率。复杂分离分析支持一种多基因或多因素模型，总遗传度为56%。没有证据支持存在主基因，尽管不能排除罕见基因是一小部分病例的病因。针对这种严重疾病的遗传和环境因素进行具体研究似乎是值得的；但是，目前，阑尾炎的阳性家族史可能会与其他证据一起，有助于提高对急性阑尾炎的临床识别。
