Aziz Sancar Institute of Experimental Medicine, Department of Molecular Medicine, İstanbul University, İstanbul, Turkey.
Department of Molecular Biology Genetics, İstanbul Medeniyet University, İstanbul, Turkey.
Mol Biol Rep. 2021 May;48(5):4073-4081. doi: 10.1007/s11033-021-06417-7. Epub 2021 May 31.
Teratozoospermia is a condition related to poor morphologically normal sperm count below the lower reference limit, which could hinder natural conception. Single nucleotide polymorphisms (SNPs) in the genes involved in sperm production and testicular function are proved to be risk factors, resulting in decreased sperm parameters and defects in sperm morphology. c.474 G > A polymorphism in the SEPTIN12 gene which is one of the testis-specific genes creates a novel splice variant and the resulting truncated protein was previously found to be more prevalent in infertile men. We aimed to investigate the association of SEPTIN12 c.474 G > A polymorphism with male infertility in teratozoospermia patients. Forty-eight teratozoospermic patients, diagnosed according to Kruger's criteria and 164 fertile controls who fathered at least 1 child within 3 years without assisted reproductive technologies were included into our prospective randomized controlled study. PCR-RFLP method was used for genotyping. Although no statistical difference was found between teratozoospermic patients and fertile controls in terms of genotype distributions, significance was identified between the genotypes of all and non-smoking teratozoopermic patients in terms of neck defects. SEPTIN12 c.474 G > A polymorphism was shown to be associated with sperm neck defects in teratozoospermic patients using the dominant statistical model. Smoking was identified as a risk factor for the sperm morphology defects in teratozoospermic A allele carriers.
畸形精子症是一种与形态正常精子计数低于下限相关的病症，这可能会妨碍自然受孕。研究证实，参与精子发生和睾丸功能的基因中的单核苷酸多态性（SNPs）是导致精子参数下降和精子形态缺陷的风险因素。SEPTIN12 基因中的 c.474G > A 多态性是一种睾丸特异性基因，可产生一种新的剪接变异体，之前发现这种截短的蛋白质在不育男性中更为普遍。我们旨在研究 SEPTIN12 c.474G > A 多态性与畸形精子症患者男性不育之间的关系。我们纳入了 48 名根据 Kruger 标准诊断的畸形精子症患者和 164 名在 3 年内未使用辅助生殖技术生育至少 1 名子女的生育力正常对照者，进行了前瞻性随机对照研究。使用 PCR-RFLP 方法进行基因分型。虽然畸形精子症患者与生育力正常对照组在基因型分布方面没有统计学差异，但在所有和非吸烟畸形精子症患者中，各基因型与颈部缺陷之间存在显著差异。使用显性统计模型显示，SEPTIN12 c.474G > A 多态性与畸形精子症患者的精子颈部缺陷相关。吸烟被确定为畸形精子症 A 等位基因携带者精子形态缺陷的一个危险因素。
