HLA-linked hemochromatosis alleles in sporadic porphyria cutanea tarda.
HLA-linked hemochromatosis alleles in sporadic porphyria cutanea tarda.
复制标题
散发性迟发性皮肤卟啉症中 HLA 连锁血色素沉着症等位基因。
DOI：
10.1016/0016-5085(89)91506-0
复制
发表时间：
1989
期刊：
影响因子：
29.4
通讯作者：
Kushner,JP
中科院分区：
文献类型：
--
作者：
Edwards,CQ;Griffen,LM;Goldgar,DE;Skolnick,MH;Kushner,JP
我们检验了一个假设，即肝铁质沉着症的特点散发性迟发性皮肤卟啉症是由于存在HLA连锁血色素沉着症等位基因。我们研究了21名散发性迟发性皮肤卟啉病先证者及其135名亲属，通过确定HLA单倍型和测量转铁蛋白饱和度和血清铁蛋白浓度。在所有先证者和亲属中进行肝活检。17个家系可用，并进行了研究的似然分析和基因计数方法。我们估计，17个有在世亲属的先证者中有10个至少有一个血色病等位基因。21例先证者中有13例（62%）至少有一种HLA-A3同种异体抗原。与先证者（26%）共享HLA单倍型的69名亲属中有18名转铁蛋白饱和度或血清铁蛋白浓度升高。只有一个一级亲属不共享HLA单倍型与先证者有升高的转铁蛋白饱和度或血清铁蛋白浓度。这些研究结果表明，HLA连锁血色素沉着症等位基因是更常见的散发性迟发性皮肤卟啉症患者比个人在一般人群中，可能是负责与大多数情况下散发性迟发性皮肤卟啉症肝铁质沉着症。
We tested the hypothesis that the hepatic siderosis that characterizes sporadic porphyria cutanea tarda is due to the presence of HLA-linked hemochromatosis alleles. We studied 21 probands with sporadic porphyria cutanea tarda and 135 of their relatives by determining HLA haplotypes and measuring transferrin saturation and serum ferritin concentration. Liver biopsies were performed in all probands and in relatives when appropriate. Seventeen pedigrees were available and were studied by both likelihood analysis and by a gene counting method. We estimated that 10 of the 17 probands with available living relatives possessed at least one hemochromatosis allele. Thirteen of the 21 probands (62%) possessed at least one HLA-A3 alloantigen. Eighteen of 69 relatives who shared an HLA haplotype with a proband (26%) had an elevation of transferrin saturation or serum ferritin concentration. Only one first-degree relative not sharing an HLA haplotype with a proband had an elevated transferrin saturation or serum ferritin concentration. These findings indicate that HLA-linked hemochromatosis alleles are far more common in patients with sporadic porphyria cutanea tarda than in individuals in the general population and may be responsible for the hepatic siderosis associated with most cases of sporadic porphyria cutanea tarda.