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启动子多态性与哮喘风险的关联。

Association of Promoter Polymorphisms With Asthma Risk.

机构信息

Division of Chest Medicine, Department of Internal Medicine, Taichung Tzu Chi Hospital, Taichung, Taiwan, R.O.C.

Graduate Institute of Biomedical Sciences, China Medical University, Taichung, Taiwan, R.O.C.

出版信息

In Vivo. 2024 Jan-Feb;38(1):365-371. doi: 10.21873/invivo.13447.

Abstract

BACKGROUND/AIM: Matrix metalloproteinase-1 (MMP-1) expression has been documented as an influential contributor to the intricate milieu of allergic airway inflammation, tissue remodeling, and the exacerbation of asthma's severity. However, the genetic role underlying MMP-1 in the context of asthma has remained enigmatic, with its full implications yet to be unveiled. Considering this, our research was designed to investigate the association of MMP-1 -1607 rs1799750 and the propensity for asthma severity.

PATIENTS AND METHODS

As a case-control investigation, our study enrolled 198 individuals diagnosed with asthma and age- and sex-matched 453 non-asthmatic controls. The genotypes of MMP-1 rs1799750 were determined utilizing the polymerase chain reaction-restriction fragment length polymorphism methodology.

RESULTS

The frequency distributions of 2G/2G, 1G/2G and 1G/1G genotypes at MMP-1 rs1799750 were 49, 42.9, and 8.1%, respectively, among the patients with asthma. This pattern was not different from that of controls (43.7, 46.8, and 9.5%, respectively) (p for trend=0.4486). The allelic frequency pertaining to the variant 1G allele within the asthma group was 29.5%, with a non-significant disparity compared to the 32.9% in the control group (p=0.2596). Noticeably, there was a positive association between MMP-1 rs1799750 2G/1G and 1G/1G genotypes with asthma severity (p=0.0060).

CONCLUSION

Our research indicated that the presence of MMP-1 rs1799750 1G allele might not be the sole arbiter of an individual's susceptibility to asthma, yet its potential to function as a discerning prognostic marker for the severity of asthma emerged as a noteworthy finding deserving attention and further exploration.

摘要

背景/目的:基质金属蛋白酶-1(MMP-1)的表达已被证明是过敏性气道炎症、组织重塑以及哮喘严重程度恶化的复杂环境中的一个重要因素。然而,MMP-1 在哮喘中的遗传作用仍然是一个谜,其全部影响尚未被揭示。考虑到这一点,我们的研究旨在调查 MMP-1-1607 rs1799750 与哮喘严重程度倾向之间的关联。

患者和方法

作为一项病例对照研究,我们纳入了 198 名被诊断为哮喘的患者和年龄及性别匹配的 453 名非哮喘对照者。使用聚合酶链反应-限制性片段长度多态性方法确定 MMP-1 rs1799750 的基因型。

结果

在 MMP-1 rs1799750 中,2G/2G、1G/2G 和 1G/1G 基因型的频率分布分别为患者组的 49%、42.9%和 8.1%。这一模式与对照组没有差异(分别为 43.7%、46.8%和 9.5%)(趋势检验 p=0.4486)。变异 1G 等位基因在哮喘组中的等位基因频率为 29.5%,与对照组的 32.9%相比无显著性差异(p=0.2596)。值得注意的是,MMP-1 rs1799750 2G/1G 和 1G/1G 基因型与哮喘严重程度之间存在正相关(p=0.0060)。

结论

我们的研究表明,MMP-1 rs1799750 1G 等位基因的存在可能不是个体易患哮喘的唯一决定因素,但它作为哮喘严重程度的一个有区别的预后标志物的潜力是一个值得关注和进一步探索的重要发现。

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