Monocyte chemotactic protein-1 single nucleotide polymorphisms do not confer susceptibility for the development of adult onset polymyositis/dermatomyositis in UK Caucasians
Monocyte chemotactic protein-1 single nucleotide polymorphisms do not confer susceptibility for the development of adult onset polymyositis/dermatomyositis in UK Caucasians
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DOI：
10.1093/rheumatology/kel359
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发表时间：
2007-04-01
期刊：
影响因子：
5.5
通讯作者：
Cooper, R. G.
中科院分区：
文献类型：
--
作者：
Chinoy, H.;Salway, F.;Cooper, R. G.
目标。多发性肌炎 (PM) 和皮肌炎 (DM) 是特发性炎症性肌病 (IIM) 的一部分。趋化因子单核细胞趋化蛋白-1 (MCP-1) 在 IIM 中 T 细胞炎症反应部位表达。因此，我们研究 MCP-1 基因中的遗传标记是否赋予 PM 和 DM 发展的疾病易感性。方法。对 195 名英国白人 IIM 患者的 DNA 样本进行了分析，其中包括 103 名 PM 和 92 名 DM。他们的结果与 162 名种族匹配的对照组的结果进行了比较。测试了MCP-1编码区域内的三个单核苷酸多态性(SNP)和一个插入-缺失序列的多态性位置。检查的 SNP 位于内含子 1 (rs2857657, C/G)、外显子 2 (rs4586, A/G) 和 3' 非翻译区 (rs13900, C/T)。插入删除序列位于内含子 1（rs3917887，AGCTCCTCCTTCTC/-）中。每个 SNP 均经过 Hardy-Weinberg 平衡和等位基因/基因型关联测试。使用期望/最大化算法估计单倍型频率。结果。这四个标记中的三个之间存在很强的连锁不平衡。大多数对照处于哈迪温伯格平衡状态。将 PM 或 DM 病例与对照进行比较，或者将 PM 和 DM 相互比较时，未检测到等位基因、基因型或单倍型关联。结论。 MCP-1 基因中的遗传标记并未显示出与 IIM 的显着遗传关联，并且无法区分英国白种人群体中的 PM 和 DM。
Objectives. Polymyositis (PM) and dermatomyositis (DM) form part of the idiopathic inflammatory myopathies (IIMs). The chemokine monocyte chemotactic protein-1 (MCP-1) is expressed at sites of the T cell inflammatory response in the IIMs. We thus investigate whether genetic markers in the MCP-1 gene confer disease susceptibility for the development of PM and DM.Methods. DNA samples were analysed from a group of 195 UK Caucasian IIM patients, comprising 103 PM and 92 DM. Their results were compared with those of 162 ethnically matched controls. The polymorphic positions of three single nucleotide polymorphisms (SNPs) and one insertion-deletion sequence within regions coding for MCP-1 were tested. The SNPs examined were located in intron 1 (rs2857657, C/G), exon 2 (rs4586, A/G) and the 3 ' untranslated region (rs13900, C/T). The insertion-deletion sequence was located in intron 1 (rs3917887, AGCTCCTCCTTCTC/-). Each SNP was tested for Hardy-Weinberg equilibrium and allelic/genotypic associations. Haplotype frequencies were estimated using the Expectation/Maximization algorithm.Results. There was strong linkage disequilibrium present between three out of these four markers. The majority of controls were in Hardy Weinberg equilibrium. No allelic, genotypic or haplotypic associations were detected when comparing PM or DM cases to controls, or when PM and DM were compared with each other.Conclusions. Genetic markers in the MCP-1 gene do not demonstrate significant genetic associations with the IIMs, and do not discriminate PM from DM in a UK Caucasian population.