Association of Matrix Metalloproteinase-2 Promoter Genotypes With Leiomyoma Risk.

IF 2.6 4区医学 Q2 GENETICS & HEREDITY

Cancer Genomics & Proteomics Pub Date : 2025-05-01 DOI:10.21873/cgp.20511

Shu-Yu Chang, Wen-Shin Chang, Chia-Wen Tsai, Yun-Chi Wang, Hou-Yu Shih, Chen-Hsien Su, DA-Tian Bau

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引用次数: 0

Abstract

Background/aim: The role of matrix metalloproteinase-2 (MMP-2) in leiomyoma pathogenesis has been suggested, but the association between MMP-2 genotypes and leiomyoma risk remains unexplored. This study investigated the impact of two MMP-2 polymorphisms, promoter -1306 (rs243865) and promoter -735 (rs2285053), on leiomyoma susceptibility.

Materials and methods: MMP-2 genotypes were analyzed in a cohort of 216 leiomyoma females and 648 non-leiomyoma controls using PCR-based RFLP.

Results: Genotypic distributions of MMP-2 rs243865 and rs2285053 in controls adhered to Hardy-Weinberg equilibrium (p=0.6161 and 0.3286, respectively). The heterozygous and homozygous variant genotypes of rs243865 were significantly associated with elevated leiomyoma risk (OR=1.63 and 4.33, 95%CI=1.13-2.35 and 1.67-11.16, p=0.0120 and 0.0027, respectively). The dominant model further revealed increased risk for CT and TT genotypes (OR=1.80, 95%CI=1.27-2.56, p=0.0013). The T allele at rs243865 was also significantly linked to higher risk (OR=1.84, 95%CI=1.35-2.50, p=0.0001). No significant association was found for rs2285053. Stratified analysis showed a significant interaction between rs243865 genotypes and age, with elevated risk in older females (p for trend=0.0003) and a notable association with larger tumors (p for trend=0.0029).

Conclusion: MMP-2 rs243865 CT and TT genotypes significantly contribute to leiomyoma risk, particularly in older women and those with larger tumors.

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基质金属蛋白酶-2启动子基因型与平滑肌瘤风险的关系

背景/目的：基质金属蛋白酶-2 （matrix metalloproteinase-2, MMP-2）在平滑肌瘤发病中的作用已被证实，但MMP-2基因型与平滑肌瘤发病风险之间的关系尚不清楚。本研究研究了两种MMP-2多态性，启动子-1306 （rs243865）和启动子-735 （rs2285053）对平滑肌瘤易感性的影响。材料和方法：采用基于聚合酶链反应的RFLP方法对216例女性平滑肌瘤患者和648例非平滑肌瘤患者的MMP-2基因型进行分析。结果：对照组中MMP-2 rs243865和rs2285053的基因型分布符合Hardy-Weinberg平衡（p分别为0.6161和0.3286）。rs243865杂合子和纯合子变异基因型与平滑肌瘤风险升高显著相关（OR分别为1.63和4.33,95%CI分别为1.13-2.35和1.67-11.16，p分别为0.0120和0.0027）。优势模型进一步显示CT和TT基因型的风险增加（OR=1.80, 95%CI=1.27 ~ 2.56, p=0.0013）。T等位基因rs243865也与高风险显著相关（OR=1.84, 95%CI=1.35-2.50, p=0.0001）。rs2285053未发现显著相关性。分层分析显示，rs243865基因型与年龄之间存在显著的相互作用，年龄较大的女性患病风险较高（p为趋势=0.0003），与较大的肿瘤存在显著相关性（p为趋势=0.0029）。结论：MMP-2 rs243865 CT和TT基因型与平滑肌瘤风险显著相关，特别是在老年妇女和肿瘤较大的妇女中。

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来源期刊

Cancer Genomics & Proteomics ONCOLOGY-GENETICS & HEREDITY

CiteScore

5.00

自引率

8.00%

发文量

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