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

Zoubi, Mazhar Salim Al; Bataineh, Hamzah; Rashed, Mitri; Al‐Trad, Bahaa; Aljabali, Alaa A. A.; Al‐Zoubi, Raed M.; Hamad, Mohammad Al; AbuAlArjah, Manal Issam; Batiha, Osamah; Al‐Batayneh, Khalid

doi:10.1111/and.13728

Cited by 9 publications

(12 citation statements)

References 73 publications

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“…The distinct result of that study might be attributed to a relatively small study population (n = 47 infertile men and n = 32 controls) compared to our study which included 113 fertile and 312 infertile subjects. Similarly, a recent study has indicated no association between CAG repeat expansion and NOA in Jordanian men (Al Zoubi et al, 2020).…”

Section: Discussionmentioning

confidence: 90%

Polymorphisms of androgens‐related genes and idiopathic male infertility in Turkish men

et al. 2021

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Androgens, testosterone and dihydrotestosterone (DHT) are endocrine regulators of spermatogenesis and act via androgen receptor (AR). The aim of this study was to investigate the association(s) of AR (CAG repeat length), SRD5A2 (rs523349, V89L) and TNFα (rs1800629, -308G/A) polymorphisms with idiopathic male infertility in Turkish men. This case-control study consisted of 312 men with idiopathic infertility and 113 fertile men. Polyacrylamide gel electrophoresis (PAGE) or PCR-restriction fragment length polymorphism methods were used for genotyping. The mean AR CAG repeat length was significantly longer in infertile men than in fertile men (p = 0.015).However, there was no significant association between the SRD5A2 genotypes (VV, VL and LL) and the risk of infertility (p = 0.516). The genotype frequency and allele distribution of TNFα -308G/A polymorphism (GG, GA, AA genotypes and G, A alleles) were not associated with male infertility (p = 0.779 and p = 0.743 respectively).AR CAG repeat expansion might be one of the risk factors for idiopathic male infertility in Turkish men. Further studies investigating the association of male infertility with AR CAG, V89L and -308G/A polymorphisms are warranted to understand the possible associations among them.

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Section: Discussionmentioning

confidence: 90%

Polymorphisms of androgens‐related genes and idiopathic male infertility in Turkish men

et al. 2021

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“…The most frequent CAG repetition (21) was reported in (55%) of fertile men. From our research, it is intriguing to discover different repeat sizes' distribution (17)(18)(19)(20)(21)(22)(23)(24)(25)(26) in both case and control participants. Almost the same (64%).…”

Section: Frequency Of Cag Expansion Among Case and Control Groupsmentioning

confidence: 84%

“…To determine if the categorical variables' distributions varied from one another, we used the Chi-square test. Among fertile and infertile males, the prevalence of CAG expansion in the Current research on CAG expansion found in the AR gene of infertile men, ranging from (17)(18)(19)(20)(21)(22)(23)(24)(25)(26) repeats, which the mean CAG repeat was (21.3 ±0.16). The CAG repetition number that was seen the most frequently was 25 (16.7%).…”

Section: Frequency Of Cag Expansion Among Case and Control Groupsmentioning

confidence: 99%

CAG Expansion in Androgen Receptor Gene of Infertile Men in Erbil Governorate

Salih

Karim

2023

KJAR

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Spermatogenesis and male phenotypic development during puberty are mainly done by androgen and their function is regulated by the androgen receptor (AR) gene. This gene has a polymorphism site in Exon1 which encode androgen receptor and have various length of CAG trinucleotide repeat which causes the production of polyglutamine chain in different length of the N-terminal domain of AR protein which reduces producing sperm by disrupting spermatogenesis. The aim is to determine the relation of infertility in male with the increased frequency of CAG repeats in the AR gene, and the correlation between CAG repetition and hormonal changes. The case-control research was carried out in the Immunogene center and IVF center in the maternity teaching hospital Erbil-Kurdistan region-Iraq. The convenience sample included 50 men, 30 infertile and 20 fertile over one year starting from March 2021 to March 2022. Men with infertility had CAG repeats in their AR gene, ranging from (17-26) repeats, with a mean (21.3 ±0.16). In infertile men, CAG expansion was longer than the fertile men. The motility and normal morphology of sperm in infertile men have negative relation while sperm count and concentration have a positive relation with CAG expansion. The relation of hormones (Testosterone, LH, and FSH) with CAG repetition was statistically not significant. In conclusion, CAG expansion was longer in infertile (case) men compared with fertile (control) men. Polyglutamine effect on increasing sperm abnormal morphology and immotility which is the reason for infertility but statistically not significant and it will not affect hormonal assay in infertile men.

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“…Mitochondrial mutations are very common etiological pathogenic factors in energy-demanding organs such as muscles and the nervous system and are related to musculoskeletal and neurodegenerative disorders [ 4 ]. In addition, genetic alteration in the mtDNA may have significant effects on normal spermatogenesis and subsequently on fertilization [ 5 , 6 ]. Several reports have shown that mitochondrial dysfunction could lead to complete or partial spermatogenesis arrest and be an important causative factor in male infertility [ 7 ].…”

Section: Introductionmentioning

confidence: 99%

Association between the single nucleotide variants of the mitochondrial cytochrome B gene (MT-CYB) and the male infertility

et al. 2022

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Background Idiopathic male infertility can be attributed to genetic predispositions that affect sperm performance and function. Genetic alterations in the mitochondrial DNA (mtDNA) have been linked to certain types of male infertility and abnormal sperm function. Mutations in the mitochondrial cytochrome B (MT-CYB) gene might lead to some deficiencies in mitochondrial function. Thus, in the current study, we aimed to investigate the effect of mutations in the MT-CYB gene on sperm motility and male infertility. Methods and results Semen specimens were collected from 111 men where 67 men were subfertile and 44 were fertile. QIAamp DNA Mini Kit and REPLI-g Mitochondrial DNA Kit from QIAGEN were used to isolate and amplify the mitochondrial DNA. Followed by PCR and Sanger sequencing for the target sequence in the MT-CYP gene. Sequencing of the MT-CYB gene revealed a total of thirteen single nucleotide polymorphisms (SNPs). Eight SNPs were non-synonymous variant (missense variant) including: rs2853508, rs28357685, rs41518645, rs2853507, rs28357376, rs35070048, rs2853506, and rs28660155. While five SNPs were Synonymous variant: rs527236194, rs28357373, rs28357369, rs41504845, and rs2854124. Among these SNPs, three variants showed a significant difference in the frequency of the genotypes between subfertile and fertile groups: rs527236194 (T15784C) (P = 0.0005), rs28357373 (T15629C) (P = 0.0439), and rs41504845 (C15833T) (P = 0.0038). Moreover, two SNPs showed a significant association between allelic frequencies of rs527236194 (T15784C) (P = 0.0014) and rs41504845 (C15833T) (P = 0.0147) and male subfertility. Conclusion The current study showed a significant association between the MT-CYB gene polymorphisms and the development of male infertility. In particular, rs527236194, rs28357373 and rs41504845 variants were found to be the most related to the subfertility group. Further studies on larger and other populations are required to reveal the exact role of this gene in the development of male infertility. In addition, functional studies will be helpful to elucidate the molecular impact of the MT-CYP polymorphisms on mitochondrial function.

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

Cited by 9 publications

References 73 publications

Polymorphisms of androgens‐related genes and idiopathic male infertility in Turkish men

Polymorphisms of androgens‐related genes and idiopathic male infertility in Turkish men

CAG Expansion in Androgen Receptor Gene of Infertile Men in Erbil Governorate

Association between the single nucleotide variants of the mitochondrial cytochrome B gene (MT-CYB) and the male infertility

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