Medical Biochemistry and Molecular Biology Department, Faculty of Medicine, Menoufia University, Egypt.
Obstetrics and Gynecology Department, Faculty of Medicine, Menoufia University, Egypt.
Arch Biochem Biophys. 2024 Nov;761:110152. doi: 10.1016/j.abb.2024.110152. Epub 2024 Sep 10.
Endometriosis is a chronic gynecological inflammatory disease. The mitochondrial DNA copy number (mtDNA CN) and mitochondrial transcription factor A (TFAM) are known to contribute to human pathologies and cancer. Therefore, this study aims to reveal the association of mtDNA CN and TFAM+35G/C (rs1937) polymorphism with the risk of endometriosis in Egyptian females.
This case-control study involved 160 Egyptian females divided into two groups: 80 endometriosis cases and 80 controls. The mtDNA CN was quantified using a real-time quantitative PCR (qPCR), and the TFAM +35G/C SNP (rs1937) was genotyped using the TaqMan allelic discrimination assay technique.
The mtDNA CN was markedly decreased in endometriosis cases compared to controls (P < 0. 001). TFAM rs1937 genotypes and allele distributions were all in Hardy-Weinberg equilibrium. The GC genotype and the 'C' allele frequency (P = 0.015 and P = 0.017, respectively) were substantially greater in endometriosis cases.
Decreased mtDNA CN and the GC genotype of TFAM +35G/C polymorphism were significantly associated with the risk of endometriosis in Egyptian females.
子宫内膜异位症是一种慢性妇科炎症性疾病。线粒体 DNA 拷贝数 (mtDNA CN) 和线粒体转录因子 A (TFAM) 已知与人类病理和癌症有关。因此，本研究旨在揭示 mtDNA CN 和 TFAM+35G/C(rs1937) 多态性与埃及女性子宫内膜异位症风险的关联。
这项病例对照研究纳入了 160 名埃及女性，分为两组：80 例子宫内膜异位症患者和 80 例对照。使用实时定量 PCR(qPCR) 定量 mtDNA CN，使用 TaqMan 等位基因鉴别检测技术对 TFAM+35G/C SNP(rs1937) 进行基因分型。
与对照组相比，子宫内膜异位症患者的 mtDNA CN 明显降低(P<0.001)。TFAM rs1937 基因型和等位基因分布均处于 Hardy-Weinberg 平衡状态。GC 基因型和 C 等位基因频率（P=0.015 和 P=0.017）在子宫内膜异位症患者中显著增加。
mtDNA CN 降低和 TFAM+35G/C 多态性的 GC 基因型与埃及女性子宫内膜异位症的风险显著相关。
