Molecular analysis of CAG repeat length of the androgen receptor gene and Y chromosome microdeletions among Jordanian azoospermic infertile males

Abstract

Assisted reproductive technology is a common procedure which helps millions of couples who suffer fertility problems worldwide every year. Screening for genetic abnormalities prior to such procedure is very important to prevent the transmission of harmful genetic mutations to future generations. Microdeletions within the azoospermia factor (AZF) region of the Y chromosome and the expansion of the CAG trinucleotides in the androgen receptor (AR) gene are among the susceptible causes of male infertility in different ethnic groups. Such association has never been studied in Jordan. In this study, we compared CAG repeat length between azoospermic infertile and normospermic fertile Jordanian males and we also screened the frequency of Y chromosome microdeletions in the same cohort. The study included 142 nonobstructive azoospermic cases and 145 normospermic controls. Results have shown that the median CAG repeat length in the azoospermic group is 19 ± 2 compared to 19 ± 1.5 (p = .6262) in the control group. Deletions within the Y chromosome AZF region were detected in 7 of 142 cases (4.93%) and no deletions were seen in the control group. The results of this study confirm the importance of the AZF region in normal spermatogenesis, whereas it shows no link between the length of CAG repeats in the AR gene and male azoospermia in Jordanian group examined.

CAG Repeats in the androgen receptor gene is associated with oligozoospermia and teratozoospermia in infertile men in Jordan

“…On the other hand, the azoospermic group did not show an association with the length of the AR‐CAG repeat compared with the control group. The current results support previous reports that demonstrated a strong association between the longer AR‐CAG repeats and the oligozoospermia and teratozoospermia (Badran et al., 2009; Batiha et al., 2018; Dowsing et al., 1999; Fesai et al., 2009; Grigorova et al., 2017; Hadjkacem et al., 2004; Han et al., 2013; Khatami et al., 2015; Kukuvitis et al., 2002; Mostafa et al., 2012; Zare‐Karizi, Amin‐Beidokhti, Rahimi, & Mirfakhraie, 2016), as well as the lack of association between azoospermia and CAG repeats in the AR gene (Batiha et al., 2018). On the other hand, some studies reported a significant correlation between AR‐CAG repeat length and azoospermia in Australia, Greece, USA, Singapore, Ukraine, Iran and Baltic (Dowsing et al., 1999; Fesai et al., 2009; Grigorova et al., 2017; Kukuvitis et al., 2002; Mifsud et al., 2001; Zare‐Karizi et al., 2016).…”

“…Several genetic studies have investigated the role of molecular determinants in the development of azoospermia, asthenozoospermia, oligozoospermia or teratozoospermia in infertile men (Al Zoubi et al., 2019; Alhalabi et al., 2013; Badran et al., 2009; BATİHA, AL‐GHAZO, ELBETİEHA, & JARADAT, 2012; Batiha et al., 2018; Hamada, Esteves, & Agarwal, 2013; Milatiner et al., 2004; Shamsi et al., 2011; Yasin et al., 2014). Due to the contradictory results, the outcomes of these studies support further molecular investigations to identify the aetiology of the above‐mentioned abnormal spermatogenesis process and infertility.…”

Genetic investigations on causes of male infertility in Western Saudi Arabia

“…In 66 (7.5%) of 880 patients with nonobstructive azoospermia from the Middle East, but not specifying the individual nationality, AZF deletions were detected, most frequently AZFb deletions (33.3%), but also AZFbc deletions in 17% (Alhalabi et al, ). A lower incidence of AZF deletions was found in 7/142 (5%) Jordanian patients with nonobstructive azoospermia (Batiha et al, ). The highest incidence of 24% among 99 infertile men has been reported from West Azerbaijan (Omrani, Samadzadae, Bagheri, & Attar, ).…”

Androgen receptor (AR)-CAG trinucleotide repeat length and idiopathic male infertility: a case-control trial and a meta-analysis

“…Infertility is a major health problem with associations to both genetic and environmental factors, affecting one-sixth of couples worldwide (Batiha et al, 2018[ 5 ]; Ge et al, 2014[ 19 ]). Approximately 50 % of infertility cases are attributed to male factors (Zorrilla and Yatsenko, 2013[ 67 ]).…”