Krajinovic M, Mestroni L, Severini G M, Pinamonti B, Camerini F, Falaschi A, Giacca M
International Centre for Genetic Engineering and Biotechnology, AREA Science Park, Trieste, Italy.
J Med Genet. 1994 Oct;31(10):766-71. doi: 10.1136/jmg.31.10.766.
Idiopathic dilated cardiomyopathy (IDC) is a heart disease of unknown aetiology characterised by impaired ventricular function usually associated with dilatation of the cardiac chambers. In order to test the hypothesis of an immunological cause for the disease at the genetic level, we performed linkage analysis between the putative disease locus and some of the potential candidate genes involved in the immune response or coding for the targets for autoantibodies in a large multigeneration family (63 members) from southern Italy with autosomal dominant transmission of the disease. Twenty-nine polymorphic markers on 18 different chromosomal locations were investigated, including markers linked to the genes coding for the HLA antigens, the immunoglobulin heavy and light chains, the receptors for the immunoglobulin Fc fragments, the subunits of the T cell receptor and the associated CD3, CD4, CD8, and CD45 antigens, interleukins 1, 3, 4, 5, 6, 9, and 11, the interleukin 1 and 2 receptors, and the genes coding for the beta 1 adrenoreceptor, the adenine nucleotide translocator-1, and the cardiac alpha and beta myosin heavy chains. No evidence for genetic linkage to IDC was found at any of these candidate loci. These results indicate that the still unidentified IDC gene maps outside several loci involved in the regulation of immune reactivity.
特发性扩张型心肌病（IDC）是一种病因不明的心脏病，其特征为心室功能受损，通常伴有心腔扩张。为了在基因水平上检验该疾病免疫病因的假说，我们在一个来自意大利南部的大型多代家族（63名成员）中进行了疾病假定基因座与一些参与免疫反应或编码自身抗体靶标的潜在候选基因之间的连锁分析，该疾病呈常染色体显性遗传。我们研究了18个不同染色体位置上的29个多态性标记，包括与编码HLA抗原、免疫球蛋白重链和轻链、免疫球蛋白Fc片段受体、T细胞受体亚基以及相关的CD3、CD4、CD8和CD45抗原、白细胞介素1、3、4、5、6、9和11、白细胞介素1和2受体以及编码β1肾上腺素能受体、腺嘌呤核苷酸转位酶-1和心脏α及β肌球蛋白重链的基因相关的标记。在这些候选基因座中，均未发现与IDC存在遗传连锁的证据。这些结果表明，仍未确定的IDC基因位于几个参与免疫反应调节的基因座之外。
