• PMID: 31474436
• Gene Name: DEFB126
• Condition: Male infertility
• Association: Associated
• Mutation: 2-nt deletion
• Population size: 654
• Population details: 654 (277 Iranian males with unexplained infertility, including 139 patients who underwent intrauterine insemination (IUI) and 103 patients who underwent IVF/intracytoplasmic sperm injection (ICSI), as well as 35 infertile males, 100 fertile controls)
• Sex: Male
• Infertility type: Male infertility

The role of DEFB126 variation in male infertility and medically assisted reproduction technique outcome

Boroujeni PB, Ebrahimian S, Abedini M, Chayjan MR, Hassani M, Gourabi H, Sadighi-Gilani MA, Sabbaghian M, Meybodi AM.

RESEARCH QUESTION: Human DEFB126 is an important component of the glycocalyx of human spermatozoa. Beta-defensins play a primary role in male infertility due to their involvement in maturation and capacitation of spermatozoa. A 2-nt deletion of DEFB126 affects sperm function and so this study investigated the possible association between DEFB126 variants and its protein expression on medically assisted reproduction (MAR) technique outcome in Iranian infertile males. DESIGN: The presence of a 2-nt deletion of DEFB126, and its protein expression in spermatozoa, were investigated by standard polymerase chain reaction (PCR) sequencing and immunocytochemistry, respectively. MAR technique outcome according to clinical pregnancy rates was assessed in 277 Iranian males with unexplained infertility, including 139 patients who underwent intrauterine insemination (IUI) and 103 patients who underwent IVF/intracytoplasmic sperm injection (ICSI), as well as 35 infertile males who declined to use any MAR treatment. As the control group, 100 fertile males with a normal spermiogram were enrolled. RESULTS: The 2-nt deletion of DEFB126 was significantly higher in infertile patients than controls (P ≤ 0.05). The presence of this deletion resulted in significantly lower clinical pregnancy rates following IUI (P ≤ 0.05); however, there were no differences in IVF/ICSI outcomes according to genotype. The protein expression in del/del males was also remarkably lower than that of the other genotypes. CONCLUSIONS: This sequence variation of DEFB126 may impair male reproductive function and can be related to male infertility. Interestingly, males with the del/del genotype have a normal spermiogram; however, their spermatozoa are evidently functionally impaired, which can affect IUI treatment outcome, but not treatment by IVF/ICSI. CI - Copyright © 2019 Reproductive Healthcare Ltd. Published by Elsevier Ltd. All rights reserved. FAU - Boroujeni, Parnaz Borjian AU - Boroujeni PB AD - Department of Genetics, Reproductive Biomedicine Research Centre, Royan Institute for Reproductive Biomedicine, ACECR Tehran, Iran. FAU - Ebrahimian, Somayeh AU - Ebrahimian S AD - Department of Genetics, Reproductive Biomedicine Research Centre, Royan Institute for Reproductive Biomedicine, ACECR Tehran, Iran. FAU - Abedini, Maryam AU - Abedini M AD - Department of Genetics, Reproductive Biomedicine Research Centre, Royan Institute for Reproductive Biomedicine, ACECR Tehran, Iran. FAU - Chayjan, Maral Rostami AU - Chayjan MR AD - Department of Genetics, Reproductive Biomedicine Research Centre, Royan Institute for Reproductive Biomedicine, ACECR Tehran, Iran. FAU - Hassani, Mahdye AU - Hassani M AD - Department of Andrology, Reproductive Biomedicine Research Centre, Royan Institute for Reproductive Biomedicine, ACECR Tehran, Iran. FAU - Gourabi, Hamid AU - Gourabi H AD - Department of Genetics, Reproductive Biomedicine Research Centre, Royan Institute for Reproductive Biomedicine, ACECR Tehran, Iran. FAU - Sadighi-Gilani, Mohammad Ali AU - Sadighi-Gilani MA AD - Department of Andrology, Reproductive Biomedicine Research Centre, Royan Institute for Reproductive Biomedicine, ACECR Tehran, Iran. FAU - Sabbaghian, Marjan AU - Sabbaghian M AD - Department of Andrology, Reproductive Biomedicine Research Centre, Royan Institute for Reproductive Biomedicine, ACECR Tehran, Iran. Electronic address: marjan.sabbaghian@gmail.com.