关键词: 瘢痕疙瘩, 单核细胞趋化蛋白_1基因, 单核苷酸多态性, 聚合酶链式反应_限制性片段长度多态性, 遗传异质性

Abstract: BACKGROUND ＆ AIM: To evaluate the potential association between MCP_1 gene promoter _2518 G/A polymorphism and keloid development in Chinese. MATERIALS AND METHODS: The distribution of the _2518 G/A polymorphism of MCP_1 gene was analyzed from the 92 patients with keloid and 180 unrelated healthy controls with polymerase chain reaction_restriction fragment length polymorphism (PCR_RFLP) analysis and DNA sequence analysis. RESULTS: No significant difference was observed between the patients and healthy controls in the distribution of allelic and genotypic frequencies of the 2518 G/A MCP_1 gene polymorphism(P were 0.419 and 0.415,respectively). When patients were stratified according to the clinical features of keloid, a significant increase in the frequency of the carriers of the A allele was found among patients with multiple site scars compared with those with single site scar (P=0.035，OR=2.952, 95％ CI:1.051～8.290). CONCLUSION: In this study, the A allele of MCP_1 gene promoter _2518 may be associated with the formation and development of multiple keloids.

Key words: keloid, MCP_1 gene, SNP, PCR_RFLP, genetic heterogeneity