High levels of osteopontin associated with polymorphisms in its gene are a risk factor for development of autoimmunity/lymphoproliferation
High levels of osteopontin associated with polymorphisms in its gene are a risk factor for development of autoimmunity/lymphoproliferation
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DOI：
10.1182/blood-2003-05-1748
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发表时间：
2004-02-15
期刊：
影响因子：
20.3
通讯作者：
Dianzani, U
中科院分区：
文献类型：
--
作者：
Chiocchetti, A;Indelicato, M;Dianzani, U
自身免疫/淋巴增生性综合征（ALPS）表现为Fas功能缺陷、自身免疫、淋巴结病/脾肿大和CD4/CD8双阴性（DIN） T细胞扩增。Dianzani自身免疫/淋巴增生性疾病（ald）是一种缺乏DN细胞的ALPS变型。这两种形式都归因于遗传突变对Fas系统的影响，但也可能涉及其他因素。对一名DALD患者的初步cDNA阵列分析检测到细胞因子骨桥蛋白（OPN）过表达。通过酶联免疫吸附试验（ELISA）检测，DALD患者（n = 25）的血清OPN水平高于对照组（n = 50），证实了这一观察。OPN cDNA分析鉴定出4个多态性，形成3个单倍型（A、B和C）。患者（N = 26）和对照组（N = 158）的总体分布和基因型组合存在差异（P < 0.05）
The autoimmune/lymphoproliferative syndrome (ALPS) displays defective function of Fas, autoimmunities, lymphadenopathy/splenomegaly, and expansion of CD4/CD8 double-negative (DIN) T cells. Dianzani autoimmune/lymphoproliferative disease (DALD) is an ALPS variant lacking DN cells. Both forms have been ascribed to inherited mutations hitting the Fas system but other factors may be involved. A pilot cDNA array analysis on a DALD patient detected overexpression of the cytokine osteopontin (OPN). This observation was confirmed by enzyme-linked immunosorbent assay (ELISA) detection of higher OPN serum levels in DALD patients (n = 25) than in controls (n = 50). Analysis of the OPN cDNA identified 4 polymorphisms forming 3 haplotypes (A, B, and C). Their overall distribution and genotypic combinations were different in patients (N = 26) and controls (N = 158) (P