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基质金属蛋白酶-1(MMP-1)的-1607 2G 处的多态性增加了韩国人群突发性耳聋的风险,但 MMP-1 的-519A/G 处没有。

A polymorphism at -1607 2G in the matrix metalloproteinase-1 (MMP-1) increased risk of sudden deafness in Korean population but not at -519A/G in MMP-1.

机构信息

Department of Otolaryngology , School of Medicine, Kyung Hee University, Seoul, Korea.

出版信息

Laryngoscope. 2011 Jan;121(1):171-5. doi: 10.1002/lary.21334.

DOI:10.1002/lary.21334
PMID:21154774
Abstract

OBJECTIVES/HYPOTHESIS: Matrix metalloproteinase-1 (MMP-1) is associated with a risk of inflammatory disease and cancer invasion. Two common etiologies for sudden deafness (SD) are circulatory disturbance and inflammation. The present study aimed to investigate whether MMP-1 polymorphisms are associated with SD.

STUDY DESIGN

Case-control study. Ninety-nine Korean SD patients and 530 normal patients (controls) were used in this study.

METHODS

Single nucleotide polymorphism (SNP) of MMP-1 (at -1607G/2G and -519A/G) was analyzed using the pyrosequencing method.

RESULTS

At MMP-1 -1607G/2G, the distributions of 2G/2G, G/2G, and G/G genotypes in controls were 36.8%, 44.3%, and 18.9%, respectively, and in SD patients were 46.5%, 48.5%, and 5.1%, respectively. The 2G/2G genotype was found to increase the risk of SD compared with the G/G genotype (codominant model: P = .0029; recessive model: P = .0003). The 2G allele was found to increase the risk of SD compared with the G allele (P = .002). At MMP1 -519A/G, there was no statistically significant increase in the risk of SD. Among haplotypes of MMP-1 polymorphisms -1607G/2G and -519A/G, 2GA and GA were found to be associated with SD (P < .05).

CONCLUSIONS

These results suggest that the 2G/2G genotype is associated with an increased risk of SD compared with the G/2G and G/G genotypes. Furthermore, the 2G allele may be a risk factor for SD.

摘要

目的/假设:基质金属蛋白酶-1(MMP-1)与炎症性疾病和癌症侵袭的风险相关。突发性聋(SD)的两个常见病因是循环障碍和炎症。本研究旨在探讨 MMP-1 多态性是否与 SD 相关。

研究设计

病例对照研究。本研究使用了 99 名韩国 SD 患者和 530 名正常患者(对照组)。

方法

使用焦磷酸测序法分析 MMP-1(-1607G/2G 和 -519A/G)的单核苷酸多态性(SNP)。

结果

在 MMP-1-1607G/2G 中,对照组 2G/2G、G/2G 和 G/G 基因型的分布分别为 36.8%、44.3%和 18.9%,而 SD 患者分别为 46.5%、48.5%和 5.1%。与 G/G 基因型相比,2G/2G 基因型增加了 SD 的风险(共显性模型:P =.0029;隐性模型:P =.0003)。与 G 等位基因相比,2G 等位基因增加了 SD 的风险(P =.002)。在 MMP1-519A/G 中,SD 的风险没有统计学意义的增加。在 MMP-1 多态性-1607G/2G 和 -519A/G 的单体型中,发现 2GA 和 GA 与 SD 相关(P <.05)。

结论

这些结果表明,与 G/2G 和 G/G 基因型相比,2G/2G 基因型与 SD 风险增加相关。此外,2G 等位基因可能是 SD 的一个危险因素。

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