Haratian Kaveh, Borjian Boroujeni Parnaz, Sabbaghian Marjan, Maghareh Abed Elham, Moazenchi Maedeh, Mohseni Meybodi Anahita
Department of Pathology and Laboratory Medicine, Western University, Ontario, Canada.
Department of Genetics, Reproductive Biomedicine Research Center, Royan Institute for Reproductive Biomedicine, ACECR, Tehran, Iran.
J Reprod Infertil. 2024 Jan-Mar;25(1):20-27. doi: 10.18502/jri.v25i1.15195.
Chlamydia trachomatis (CT) is one of the most prevalent sexually transmitted infections, causing genital tract infections and infertility. Defensins have an immunomodulatory function and play an important role in sperm maturation, motility, and fertilization. DEFB126 is present on ejaculated spermatozoa and is essential for them to pass through the female reproductive tract. The purpose of the study was to determine the frequency of the 2-nt deletion of the DEFB126 (rs11467417) in Iranian infertile males with a recurrent history of CT.
Semen samples of 1080 subfertile males were investigated. Among patients who had CT-positive results, sperm DNA from 50 symptomatic and 50 asymptomatic patients were collected for the DEFB126 genotype analysis. Additionally, a control group comprising 100 DNA samples from individuals with normal spermogram and testing negative for CT was included in the study. The PCR-sequencing for detecting the 2-nt deletion of the second exon of the DEFB126 was performed.
The Chi-squared test comparing all three groups revealed no significant difference across the different genotypes. Moreover, no significant difference between the symptomatic and asymptomatic groups was seen. However, analysis within CT-positive patients and controls demonstrated significant difference between the frequencies of homozygous del/del.
The higher frequency of the 2-nt deletion of the DEFB126 in CT- positive patients suggests that the occurrence of mutations in the DEFB-126 may cause the impairment of the antimicrobial activity of the DEFB126 protein and consequently makes individuals more susceptible to infections such as CT.
沙眼衣原体（CT）是最常见的性传播感染之一，可导致生殖道感染和不孕不育。防御素具有免疫调节功能，在精子成熟、活力和受精过程中发挥重要作用。DEFB126存在于射出的精子上，对精子穿过女性生殖道至关重要。本研究的目的是确定有CT复发史的伊朗不育男性中DEFB126（rs11467417）2个核苷酸缺失的频率。
对1080名亚生育男性的精液样本进行调查。在CT检测结果为阳性的患者中，收集50名有症状患者和50名无症状患者的精子DNA进行DEFB126基因型分析。此外，研究纳入了一个对照组，该组由100份精子图谱正常且CT检测为阴性的个体的DNA样本组成。采用聚合酶链反应测序法检测DEFB126第二外显子的2个核苷酸缺失。
对所有三组进行的卡方检验显示，不同基因型之间无显著差异。此外，有症状组和无症状组之间也无显著差异。然而，对CT阳性患者和对照组的分析表明，纯合缺失/缺失频率之间存在显著差异。
CT阳性患者中DEFB126 2个核苷酸缺失的频率较高，这表明DEFB - 126基因突变可能导致DEFB126蛋白抗菌活性受损，从而使个体更容易感染CT等疾病。
