Wyatt R J, Rivas M L, Julian B A, Quiggins P A, Woodford S Y, McMorrow R G, Baehler R W
Am J Hum Genet. 1987 Jul;41(1):36-50.
The genealogies of 80 patients with IgA nephropathy who were born in central or eastern Kentucky or whose parents were born in this region were researched. At a minimum, 48 of these patients were related to at least one other patient. On the basis of presence or absence of established kinships, the patients were divided into three groups. Twenty-nine patients in group 1 belonged to one large pedigree. Their birthplaces and those of their parents, grandparents, and great-grandparents clustered in the extreme eastern portion of the state. Seventeen other patients, group 2, were related to at least one other patient but not to a patient in group 1. Their birthplaces and those of their ancestors did not show significant clustering. With the exception of two siblings, the 34 patients of group 3 had no family members with IgA nephropathy. The birthplaces for these patients and ancestors were widely scattered. These data suggest that one or more genetically determined factors are important in the pathogenesis of IgA nephropathy in some patients. A founder effect, whereby a gene(s) conveying susceptibility to IgA nephropathy was carried into eastern Kentucky by one or more of the early settlers, would explain the geographic clustering of the birthplaces of the patients in group 1 and their ancestors. The characteristic immunopathology of IgA nephropathy may represent the histologic result of separate disease processes, one or more of which could be genetically influenced.
对80例IgA肾病患者的家系进行了研究，这些患者出生在肯塔基州中部或东部，或者其父母出生在该地区。这些患者中至少有48人与其他至少一名患者有亲属关系。根据是否存在既定的亲属关系，将患者分为三组。第一组的29名患者属于一个大家族。他们及其父母、祖父母和曾祖父母的出生地集中在该州的最东部。另外17名患者（第二组）与其他至少一名患者有亲属关系，但与第一组的患者没有亲属关系。他们及其祖先的出生地没有明显的聚集现象。除了两名兄弟姐妹外，第三组的34名患者没有患IgA肾病的家庭成员。这些患者及其祖先的出生地分布广泛。这些数据表明，一个或多个基因决定因素在某些患者IgA肾病的发病机制中很重要。一种奠基者效应，即携带对IgA肾病易感性的一个或多个基因被早期定居者之一带入肯塔基州东部，这可以解释第一组患者及其祖先出生地的地理聚集现象。IgA肾病的特征性免疫病理学可能代表了不同疾病过程的组织学结果，其中一个或多个过程可能受到遗传影响。
