Kekki M, Siurala M, Varis K, Sipponen P, Sistonen P, Nevanlinna H R
Second Dept. of Medicine, Meilahti Hospital, Helsinki, Finland.
Scand J Gastroenterol Suppl. 1987;141:1-28.
Two family samples, (i) a sample considered to represent the population at large (431 subjects) and (ii) a sample of first-degree relatives of index subjects (IS) with overt pernicious anaemia (183 subjects) were analyzed in order to evaluate the onset and course of chronic gastritis (CG) and the pathogenetic factors involved with special reference to the effects of genetic variation. The analysis was based on data obtained from two generations: first generation (sibs of the IS) and second (children of the IS). Formulae derived from Poisson process were used for age-correction of the gastritic changes. Otherwise, conventional statistical methods were used in the genetic analysis and the calculation of prevalences of CG. This approach enabled us to achieve a classification of gastritis into more specific subgroups and to evaluate the natural course of the disease. The progression of gastritis in the second generation (children; mean age 35 years) was roughly similar in antrum and body, indicating that gastritis starts as a diffuse process affecting both areas of the stomach to a rather similar degree. The start of CG and its progression is at least to some degree influenced by genetic factors and probably regulated by the male sex. Thus nearly all children of male IS's with a non-atrophic mucosa (normal mucosa or superficial gastritis) showed a normal mucosa suggesting the existence of a particular sex-bound, genetic mechanisms. These mechanisms may prevent or delay the progression of gastritis up to middle age, when a change in dynamics occurs leading to formation of more specific subtypes of CG. In the first generation (mean age 60 years) CG dispersed into more specific subtypes (corresponding to types A and B of Strickland and McKay and type AB of Glass) and to more advanced stages, which were connected with a higher than expected prevalence of advanced stages also in the relatives. The families of IS's with type A atrophic gastritis (AG) (severe AG in the body but no AG in antrum), type B (AG in antrum but no AG in body) and type AB AG (AG in both antrum and body) showed typical dynamic patterns of the age-specific prevalences of AG. Genetic calculations showed that the type A of AG found in pernicious anaemia patients and their relatives is inherited by a simple dominant gene, while this type of inheritance is statistically unlikely in the type B of AG. The type B, on the other hand, exhibited characteristics that indicate a recessive Mendelian inheritance.(ABSTRACT TRUNCATED AT 400 WORDS)
为了评估慢性胃炎(CG)的发病情况和病程以及涉及的致病因素,特别是基因变异的影响,对两个家族样本进行了分析:(i)一个被认为代表总体人群的样本(431名受试者)和(ii)患有明显恶性贫血的索引受试者(IS)的一级亲属样本(183名受试者)。该分析基于从两代人获得的数据:第一代(IS的兄弟姐妹)和第二代(IS的子女)。源自泊松过程的公式用于胃炎变化的年龄校正。否则,常规统计方法用于基因分析和CG患病率的计算。这种方法使我们能够将胃炎分类为更具体的亚组,并评估疾病的自然病程。第二代(子女;平均年龄35岁)胃炎在胃窦和胃体的进展大致相似,表明胃炎开始时是一种弥漫性过程,对胃的两个区域的影响程度相当相似。CG的开始及其进展至少在一定程度上受遗传因素影响,可能受男性性别调控。因此,几乎所有具有非萎缩性黏膜(正常黏膜或浅表性胃炎)的男性IS的子女都表现出正常黏膜,这表明存在一种特定的性别相关遗传机制。这些机制可能会预防或延缓胃炎进展至中年,此时动态变化发生,导致形成更具体的CG亚型。在第一代(平均年龄60岁),CG分散为更具体的亚型(对应于Strickland和McKay的A、B型以及Glass的AB型)并发展至更晚期阶段,在亲属中晚期阶段的患病率也高于预期。患有A型萎缩性胃炎(AG)(胃体严重AG但胃窦无AG)、B型(胃窦AG但胃体无AG)和AB型AG(胃窦和胃体均有AG)的IS家族显示出AG年龄特异性患病率的典型动态模式。基因计算表明,恶性贫血患者及其亲属中发现的A型AG由一个简单的显性基因遗传,而这种遗传类型在B型AG中从统计学上不太可能。另一方面,B型表现出表明隐性孟德尔遗传的特征。(摘要截于400字)