Arnett F C, Enlow R W, Bias W B
Am J Med Genet. 1982 Jul;12(3):333-42. doi: 10.1002/ajmg.1320120311.
In a study designed to clarify the relationship of HLA-B27 and sacroiliitis, 45 members of seven Old Order Amish families were thoroughly evaluated for sacroiliitis. The primary study group was three sibs who carried HLA-B27 and three of their sibs who inherited the alternate non-B27 haplotype, their spouses and offspring. The seventh B27 positive family was more distantly related. The study was undertaken with no prior knowledge of disease in these families. These families represented all the B27-positive subjects who had been ascertained up to the time the study began. In these selected families, 24% of the members were found to have sacroiliitis, irrespective of whether they were B27 positive. Analysis of the relevance of HLA to disease in this kindred was confounded by the presence of Bw39 and B17, antigens associated with psoriatic arthritis. However, not all B27-negative cases possessed one or both of these specificities. Rather than clarifying the relationship of B27 to disease, this study, in a highly consanguineous kindred, indicated that other nonlinked loci may be epistatic to B27, that other HLA alleles may be involved, or that certain causes are more prevalent in the Amish than in the non-Amish population.
在一项旨在阐明HLA - B27与骶髂关节炎关系的研究中,对7个旧秩序阿米什家族的45名成员进行了骶髂关节炎的全面评估。主要研究组是三名携带HLA - B27的同胞及其三名继承了替代非B27单倍型的同胞、他们的配偶和后代。第七个B27阳性家族的亲缘关系较远。该研究在对这些家族的疾病情况事先不知情的情况下进行。这些家族代表了在研究开始时已确定的所有B27阳性受试者。在这些选定的家族中,发现24%的成员患有骶髂关节炎,无论他们是否为B27阳性。在这个家族中,由于存在与银屑病关节炎相关的抗原Bw39和B17,HLA与疾病相关性的分析变得复杂。然而,并非所有B27阴性病例都具有这两种特异性中的一种或两种。这项在高度近亲家族中进行的研究,非但没有阐明B27与疾病的关系,反而表明其他非连锁基因座可能对B27具有上位性作用,可能涉及其他HLA等位基因,或者某些病因在阿米什人群中比在非阿米什人群中更为普遍。