Chang Shu-Yu, Chang Wen-Shin, Tsai Chia-Wen, Wang Yun-Chi, Shih Hou-Yu, Su Chen-Hsien, Bau DA-Tian
Graduate Institute of Biomedical Sciences, China Medical University, Taichung, Taiwan, R.O.C.
Department of Nephrology, Chang-Hua Hospital, Ministry of Health and Welfare, Changhua, Taiwan, R.O.C.
Cancer Genomics Proteomics. 2025 May-Jun;22(3):434-443. doi: 10.21873/cgp.20511.
BACKGROUND/AIM: The role of matrix metalloproteinase-2 (MMP-2) in leiomyoma pathogenesis has been suggested, but the association between genotypes and leiomyoma risk remains unexplored. This study investigated the impact of two polymorphisms, promoter -1306 (rs243865) and promoter -735 (rs2285053), on leiomyoma susceptibility.
genotypes were analyzed in a cohort of 216 leiomyoma females and 648 non-leiomyoma controls using PCR-based RFLP.
Genotypic distributions of rs243865 and rs2285053 in controls adhered to Hardy-Weinberg equilibrium (=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, =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, =0.0013). The T allele at rs243865 was also significantly linked to higher risk (OR=1.84, 95%CI=1.35-2.50, =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 ( for trend=0.0003) and a notable association with larger tumors ( for trend=0.0029).
rs243865 CT and TT genotypes significantly contribute to leiomyoma risk, particularly in older women and those with larger tumors.
背景/目的：基质金属蛋白酶-2（MMP-2）在平滑肌瘤发病机制中的作用已被提出，但基因型与平滑肌瘤风险之间的关联仍未得到探索。本研究调查了两个多态性，启动子-1306（rs243865）和启动子-735（rs2285053）对平滑肌瘤易感性的影响。
使用基于PCR的限制性片段长度多态性分析了216例平滑肌瘤女性和648例非平滑肌瘤对照人群的基因型。
rs243865和rs2285053在对照中的基因型分布符合哈迪-温伯格平衡（分别为=0.6161和0.3286）。rs243865的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=1.63和4.33，95%CI=1.13-2.35和1.67-11.16，分别为=0.0120和0.0027）。显性模型进一步显示CT和TT基因型风险增加（OR=1.80，95%CI=1.27-2.56，=0.0013）。rs243865处的T等位基因也与较高风险显著相关（OR=1.84，95%CI=1.35-2.50，=0.0001）。未发现rs2285053有显著关联。分层分析显示rs243865基因型与年龄之间存在显著交互作用，老年女性风险升高（趋势=0.0003），且与较大肿瘤有显著关联（趋势=0.0029）。
rs243865的CT和TT基因型显著增加平滑肌瘤风险，尤其在老年女性和肿瘤较大的女性中。
