DEFB126 2-nt Deletion (rs11467417) as a Potential Risk Factor for  Chlamydia Trachomatis Infection and Subsequent Infertility in Iranian Men

Kaveh  Haratian; Parnaz Borjian  Boroujeni; Marjan  Sabbaghian; Elham  Maghareh Abed; Maedeh  Moazenchi; Anahita Mohseni  Meybodi

doi:10.18502/jri.v25i1.15195

Kaveh Haratian Department of Pathology and Laboratory Medicine, Western University, Ontario, Canada
Parnaz Borjian Boroujeni Department of Genetics, Reproductive Biomedicine Research Center, Royan Institute for Reproductive Biomedicine, ACECR, Tehran, Iran
Marjan Sabbaghian Department of Andrology, Reproductive Biomedicine Research Center, Royan Institute for Reproductive Biomedicine, ACECR, Tehran, Iran
Elham Maghareh Abed Department of Genetics, Reproductive Biomedicine Research Center, Royan Institute for Reproductive Biomedicine, ACECR, Tehran, Iran
Maedeh Moazenchi Department of Genetics, Reproductive Biomedicine Research Center, Royan Institute for Reproductive Biomedicine, ACECR, Tehran, Iran
Anahita Mohseni Meybodi Department of Pathology and Laboratory Medicine, Western University, Ontario, Canada

DOI: https://doi.org/10.18502/jri.v25i1.15195

Keywords: Chlamydia infection, Defensin gene, Infertility.

Abstract

Background: 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.

Methods: 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.

Results: 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.

Conclusion: 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.