Kulac Tuba, Hekim Neslihan, Kocamanoglu Fatih, Beyaz Cengiz, Gunes Sezgin, Asci Ramazan
Department of Medical Biology, Faculty of Medicine, Ondokuz Mayis University, Samsun, Turkey.
Department of Urology, Faculty of Medicine, Ondokuz Mayis University, Samsun, Turkey.
Andrologia. 2021 Mar;53(2):e13942. doi: 10.1111/and.13942. Epub 2020 Dec 28.
Errors of folate/homocysteine pathways which are critical for transferring methyl groups have been suggested to affect male fertility. We aimed to evaluate the methylation patterns of the promoter of methylenetetrahydrofolate reductase (MTHFR) gene in infertile males and to investigate the association between MTHFR promoter methylation and success of sperm retrieval. Thirty-five nonobstructive azoospermic and 46 severe oligozoospermic patients constituted the study group and were compared with 49 fertile and/or normozoospermic men. The methylation status was analysed by methylation-specific polymerase chain reaction. MTHFR promoter methylation was detected in infertile men with NOA and SO in the ratio of 48.6% and 58.7%, respectively. Methylation was also observed in 51% of controls. MTHFR promoter was methylated in 65% of men with viable spermatozoon during TESE. No association was found regarding to the profile of MTHFR promoter methylation between both NOA and SO patients and controls (p = .621). There was no relation between the methylation status of MTHFR promoter and low motility and poor morphology (p = .682 and p = .413, respectively). No association was found between MTHFR promoter methylation and presence of viable spermatozoa (p = .382). Our data indicate that the promoter methylation of MTHFR gene may not be associated with male infertility.
叶酸/同型半胱氨酸途径对于甲基转移至关重要，已有研究表明该途径的错误会影响男性生育能力。我们旨在评估不育男性中亚甲基四氢叶酸还原酶（MTHFR）基因启动子的甲基化模式，并研究MTHFR启动子甲基化与取精成功之间的关联。35例非梗阻性无精子症患者和46例严重少精子症患者组成研究组，并与49例有生育能力和/或精子正常的男性进行比较。通过甲基化特异性聚合酶链反应分析甲基化状态。在非梗阻性无精子症（NOA）和严重少精子症（SO）的不育男性中，MTHFR启动子甲基化的检出率分别为48.6%和58.7%。在51%的对照组中也观察到甲基化。在睾丸切开取精术（TESE）期间，65%有活力精子的男性中MTHFR启动子发生甲基化。在NOA和SO患者与对照组之间，未发现MTHFR启动子甲基化模式存在关联（p = 0.621）。MTHFR启动子的甲基化状态与精子活力低和形态差之间无相关性（分别为p = 0.682和p = 0.413）。未发现MTHFR启动子甲基化与有活力精子的存在之间存在关联（p = 0.382）。我们的数据表明，MTHFR基因的启动子甲基化可能与男性不育无关。
