Field L L, Dizier M H, Anderson C E, Spence M A, Rotter J I
Am J Hum Genet. 1986 Nov;39(5):640-7.
In a recent study of GM allotype frequencies in HLA-defined subsets of patients with insulin-dependent diabetes mellitus (IDDM) and similarly defined healthy sibling controls, we found evidence for an HLA-dependent GM effect on IDDM susceptibility. To circumvent problems inherent in such patient-control studies of complex diseases, we have now examined sharing of genes in the HLA and GM regions in 26 informative pairs of siblings who were both affected with IDDM. We found that: (1) in the total sample of affected sib-pairs, sharing of two HLA haplotypes was increased compared to Mendelian expectations, in agreement with many previous studies; (2) in the total sample, sharing of GM region genes (as measured by GM phenotype concordance) was not different from Mendelian expectations, given the distribution of parental mating types; and (3) affected sib-pairs who shared two HLA haplotypes showed significantly increased sharing of GM region genes compared to affected sib-pairs who shared one or zero HLA haplotypes (P = .018). These results provide new evidence for HLA-dependent effects of a locus at or near GM on susceptibility to IDDM.
在最近一项针对胰岛素依赖型糖尿病(IDDM)患者的HLA定义亚组以及同样定义的健康同胞对照的GM同种异型频率研究中,我们发现了HLA依赖的GM对IDDM易感性产生影响的证据。为了规避此类复杂疾病患者对照研究中固有的问题,我们现在检查了26对均患有IDDM的信息丰富的同胞对中HLA和GM区域基因的共享情况。我们发现:(1)在受影响同胞对的总样本中,与孟德尔预期相比,两个HLA单倍型的共享增加,这与许多先前的研究一致;(2)在总样本中,鉴于亲代交配类型的分布,GM区域基因的共享(通过GM表型一致性衡量)与孟德尔预期没有差异;(3)与共享一个或零个HLA单倍型的受影响同胞对相比,共享两个HLA单倍型的受影响同胞对显示出GM区域基因的共享显著增加(P = 0.018)。这些结果为GM处或其附近位点对IDDM易感性的HLA依赖效应提供了新证据。