• PMID: 30156032
• Gene Name: AR
• Condition: Azoospermia, Oligospermia, Asthenospermia, Male infertility
• Association: Associated
• Mutation: Two trinucleotide polymorphisms (CAG and GGN repeats) in the first exon of AR gene
• Population size: 300
• Population details: 300 (220 infertile men (80 azoospermic, 60 oligospermic and 80 asthenospermic), 80 healthy fertile controls)
• Sex: Male
• Infertility type: Male infertility
• Other associated phenotypes: Azoospermia, Oligospermia, Asthenospermia, Male infertility

Study of trinucleotide expansions and expression of androgen receptor in infertile men with abnormal spermogram referred to Royan institute

Borjian Boroujeni P, Firouzi V, Zari Moradi S, Mokhtari P, Dehghankhalili F, Mollaahmadi F, Gourabi H, Sadighi-Gilani MA, Sabbaghian M, Mohseni-Meybodi A.

Androgen receptor (AR) mediates androgen activities such as the growth of accessory sex organs, and initiation and promotion of spermatogenesis. There are two trinucleotide polymorphisms (CAG and GGN repeats) in the first exon of AR gene that their association with infertility is still controversial. The variants of both polymorphic repeats were investigated by PCR-Sequencing in 220 infertile men (80 azoospermic, 60 oligospermic and 80 asthenospermic) and 80 healthy fertile controls. AR Expression level was quantified by RT-qPCR on 30 patients (20 patients with nonobstructive azoospermia (NOA) and 10 obstructive azoospermia patients as controls). Our results demonstrated that the medians of CAG and GGN repeats length in infertile group were significantly higher than fertile men (p < 0.05). AR expression results showed a significant increase in SCOS group compared to control (p < 0.05). Long stretches of tandem repeats of AR gene may negatively affect the function of the gene and consequently lead to male infertility. In patients with SCOS, AR expression increases because of the lack of germ cells. Therefore, with increasing AR expression, the probability of SCOS occurrence is also increased. It can be concluded that increasing AR expression in testes tissue decreases the probability of sperm presence. CI - © 2018 Blackwell Verlag GmbH. FAU - Borjian Boroujeni, Parnaz AU - Borjian Boroujeni P AD - Department of Genetics, Reproductive Biomedicine Research Center, Royan Institute for Reproductive Biomedicine, ACECR, Tehran, Iran. FAU - Firouzi, Vida AU - Firouzi V AD - Department of Genetics, Reproductive Biomedicine Research Center, Royan Institute for Reproductive Biomedicine, ACECR, Tehran, Iran. AD - Department of Andrology, Reproductive Biomedicine Research Center, Royan Institute for Reproductive Biomedicine, ACECR, Tehran, Iran. FAU - Zari Moradi, Shabnam AU - Zari Moradi S AD - Department of Genetics, Reproductive Biomedicine Research Center, Royan Institute for Reproductive Biomedicine, ACECR, Tehran, Iran. FAU - Mokhtari, Pegah AU - Mokhtari P AD - Department of Genetics, Reproductive Biomedicine Research Center, Royan Institute for Reproductive Biomedicine, ACECR, Tehran, Iran. FAU - Dehghankhalili, Faezeh AU - Dehghankhalili F AD - Department of Genetics, Reproductive Biomedicine Research Center, Royan Institute for Reproductive Biomedicine, ACECR, Tehran, Iran. AD - Department of Andrology, Reproductive Biomedicine Research Center, Royan Institute for Reproductive Biomedicine, ACECR, Tehran, Iran. FAU - Mollaahmadi, Fahimeh AU - Mollaahmadi F AD - Department of Endocrinology and Female Infertility, Reproductive Biomedicine Research Center, Royan Institute for Reproductive Biomedicine, ACECR, Tehran, Iran. FAU - Gourabi, Hamid AU - Gourabi H AUID- ORCID: 0000-0001-7277-4898 AD - Department of Genetics, Reproductive Biomedicine Research Center, Royan Institute for Reproductive Biomedicine, ACECR, Tehran, Iran. FAU - Sadighi-Gilani, Mohammad Ali AU - Sadighi-Gilani MA AD - Department of Andrology, Reproductive Biomedicine Research Center, Royan Institute for Reproductive Biomedicine, ACECR, Tehran, Iran. FAU - Sabbaghian, Marjan AU - Sabbaghian M AUID- ORCID: 0000-0001-9439-268X AD - Department of Andrology, Reproductive Biomedicine Research Center, Royan Institute for Reproductive Biomedicine, ACECR, Tehran, Iran.