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MCP-1 −2518 A/G Single Nucleotide Polymorphism in Slovak Patients with Systemic Sclerosis

机译:斯洛伐克性系统性硬化患者的MCP-1 −2518 A / G单核苷酸多态性

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摘要

Recent study in a group of German patients with SSc has implicated the SNP in the MCP-1 gene (−2518 A to G) as a factor of susceptibility to SSc. Reflecting the need for replication of genetic association studies, we investigated if this SNP is associated with SSc in another Caucasian population. MCP-1 −2518 A/G genotypes were determined using PCR-SSP in 46 SSc patients and in 449 healthy subjects, all unrelated and of Slovak (Slavonic) origin. The distribution of MCP-1 −2518 A/G genotypes complied with the Hardy-Weinberg equilibrium both in patient and healthy control groups. There was no difference in MCP-1 −2518*G allele frequency between SSc patients and healthy subjects (patients: 0.23; controls: 0.24; P > .05). Furthermore, MCP-1 −2518 GG homozygotes were similarly represented among SSc patients and healthy subjects (P > .05). The association of MCP-1 −2518 A/G SNP with SSc observed originally in German population was not replicated in the Slovak population.
机译:最近对一组德国SSc患者的研究表明,MCP-1基因(−2518 A至G)中的SNP是对SSc的易感性因素。反映出需要复制遗传关联研究,我们调查了该SNP是否与另一高加索人群中的SSc相关。使用PCR-SSP在46名SSc患者和449名健康受试者中确定了MCP-1 -2518 A / G基因型,这些受试者均不相关且来自斯洛伐克语(斯拉夫语)。在患者和健康对照组中,MCP-1 -2518 A / G基因型的分布均符合Hardy-Weinberg平衡。 SSc患者和健康受试者之间的MCP-1 -2518 * G等位基因频率没有差异(患者:0.23;对照组:0.24; P> 0.05)。此外,在SSc患者和健康受试者中MCP-1 -2518 GG纯合子的表达相似(P> .05)。最初在德国人口中观察到的MCP-1 -2518 A / G SNP与SSc的关联在斯洛伐克人口中未复制。

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