Budihastuti Uki Retno, Dasuki Djaswadi, Sadewa Ahmad Hamim, Utoro Totok
Faculty of Medicine, Universitas Sebelas Maret, Surakarta, Jawa Tengah, Indonesia.
Dr. Moewardi General Hospital, Jawa Tengah, Indonesia.
J Med Life. 2023 Oct;16(10):1503-1507. doi: 10.25122/jml-2023-0192.
The endometrium produces MUCIN-1 (MUC-1) and cyclooxygenase-2 (COX-2), which are essential for implantation. MUC-1 is required for adhesion, while COX-2 is necessary for decidualization. Variations or polymorphisms in MUC-1 and COX-2 can lead to changes in endometrial receptivity. This study investigated the relationship between MUC-1 and COX-2 polymorphisms and endometrial receptivity in endometriosis patients. Blood DNA samples were collected from 35 patients with endometriosis and 32 healthy patients between days 19 to 24 of their menstrual cycle (secretory phase). MUC-1 polymorphism was determined using the Amplification Refractory Mutation System (ARMS), and COX-2 gene polymorphism was assessed using Polymerase Chain Reaction-Restriction Fragment Length Polymorphism (PCR-RFLP). The frequency distribution of gene polymorphisms between the two groups was compared using bivariate analysis. There were seven genotypic combinations of MUC-1 and COX-2: AAGC; AAGG; GACC; GAGC; GAGG; GGGC; GGGG. The AAGC genotype combination test was significant, with an OR=6.43 (95% CI:1.09-7.62) and p=0.01. In conclusion, combining MUC-1 and COX-2 (AAGC) genotypes results in endometrial receptivity defects in endometriosis.
子宫内膜会产生黏蛋白-1（MUC-1）和环氧化酶-2（COX-2），它们对胚胎着床至关重要。MUC-1是黏附所必需的，而COX-2是蜕膜化所必需的。MUC-1和COX-2的变异或多态性可导致子宫内膜容受性的改变。本研究调查了子宫内膜异位症患者中MUC-1和COX-2多态性与子宫内膜容受性之间的关系。在月经周期的第19至24天（分泌期），从35例子宫内膜异位症患者和32例健康患者中采集血液DNA样本。使用扩增阻滞突变系统（ARMS）确定MUC-1多态性，使用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）评估COX-2基因多态性。采用双变量分析比较两组基因多态性的频率分布。MUC-1和COX-2有七种基因型组合：AAGC；AAGG；GACC；GAGC；GAGG；GGGC；GGGG。AAGC基因型组合检验具有显著性，OR=6.43（95%CI：1.09-7.62），p=0.01。总之，MUC-1和COX-2（AAGC）基因型组合会导致子宫内膜异位症患者出现子宫内膜容受性缺陷。
