Androgen receptor gene CAG and GGN repeat lengths as predictors of recovery of spermatogenesis following testicular germ cell cancer treatment

Bogefors, Karolina; Giwercman, Yvonne Lundberg; Eberhard, Jakob; Ståhl, Olof; Cavallin‐Ståhl, Eva; Cohn‐Cedermark, Gabriella; Arver, Stefan; Giwercman, Aleksander

doi:10.4103/1008-682x.191126

Cited by 3 publications

(4 citation statements)

References 38 publications

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“…Assuming that the genome architecture is important for genome function, evaluation of structural changes in chromatin may help to better understand mechanisms behind trinucleotide repeat expansion disease induction. Studies of patients and families with trinucleotide repeat disorders have revealed a number of genetic and molecular bases of trinucleotide repeat instability (5,8,9). Analysis of trinucleotide repeat instability in bacteria, yeast, and mice has yielded additional insights.…”

Section: Discussionmentioning

confidence: 99%

“…The development of male phenotype and spermatogenesis depend on cellular events that respond to androgens. Impaired spermatogenesis can be caused by a variety of factors, including genetic changes and mutations in genes involved in spermatogenesis, such as the gene encoding the androgen receptor (AR) (5). The action of androgens is mediated by the AR, which is encoded by a single copy gene located on the long arm of the X chromosome.…”

Section: Introductionmentioning

confidence: 99%

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CAG repeat polymorphism in androgen receptor and infertility: A case-control study

Sharestani

Kalantar

Ghasemi

et al. 2021

IJRM

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Background: Androgens play a role in the development of male phenotype and spermatogenesis during puberty, the function of which is regulated by the androgen receptor (AR) gene. There is a polymorphism site in exon 1 of the gene encoding this receptor that can have different frequencies of CAG trinucleotide repeats and leads to the formation of polyglutamine chains of different lengths in the N-terminal domain of the AR protein and reduced sperm production by affecting spermatogenesis. Objective: To investigate whether the cause of a group of unexplained infertilities could be the increased frequency of CAG repeats in the AR gene of patients with oligozoospermia and azoospermia. Materials and Methods: In this case-control study, 84 men including 42 with unexplained infertility As a case group and 42 fertile men as a control group were selected. The frequency of CAG repeats was determined by the polymerase chain reaction method and then the difference in the frequency of these repeats was determined based on the difference in band size on the agarose gel. Results: The mean CAG repeat length in the azoospermia and oligozoospermia group was 17.5 ± 0.63 and in the fertile group it was 16.11 ± 0.75 (p = 0.46). In addition, most men (88.1% in the case group and 71.41% in the control group) had 13-23 repeats. Conclusion: No significant correlation was found between CAG repeat length and the risk of male factor infertility in an ethnically defined population of Iranian men. The role of regulatory factors and epigenetic changes should be taken into account too. Key words: Infertility, Azoospermia, Androgens, X chromosome, Spermatogenesis.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

CAG repeat polymorphism in androgen receptor and infertility: A case-control study

Sharestani

Kalantar

Ghasemi

et al. 2021

IJRM

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“…In a study conducted on patients of Caucasian origin, the author reported that men bearing 22 or 23 CAG repeats in androgen receptor (AR) gene had decreased sperm count and concentration compared to those with variable lengths. Further research has to be conducted to understand whether chemotherapeutic agents modify CAG length post-cancer treatment [77]. Furthermore, it was reported that the homozygous G/G genotype of BLMH gene SNP A1450G patients on treatment with bleomycin-based chemotherapy has reduced survival rate compared to patients with A/G and A/A genotypes [78].…”

Section: Genetic Determinants Of Chemother-apy-induced Toxicity In Te...mentioning

confidence: 99%

Current Insights into Interethnic Variability in Testicular Cancers: Population Pharmacogenetics, Clinical Trials, Genetic Basis of Chemotherapy- Induced Toxicities and Molecular Signal Transduction

Vasistha

Kothari

Mishra

et al. 2020

CTMC

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: Testicular cancer is an aggressive malignancy with a rising incidence rate across the globe. Testicular germ cell tumors are the most common diagnoses, and surgical removal of the testes is often a radical necessity along with chemotherapy and radiotherapy. While seminomas are receptive to radiotherapy as well as chemotherapy, non-seminomatous germ cell tumors respond to chemotherapy only. Due to the singular nature of testicular cancers with associated orchiectomy and mortality, it is important to study the molecular basis and genetic underpinnings of this group of cancers across male populations globally. In this review, we shed light on the population pharmacogenetics of testicular cancer, pediatric and adult tumors, current clinical trials, genetic determinants of chemotherapy-induced toxicity in testicular cancer as well as the molecular signal transduction pathways operating in this malignancy. Taken together, our discussions will help in enhancing our understanding of genetic factors in testicular carcinogenesis and chemotherapy-induced toxicity, augment our knowledge of this aggressive cancer at the cellular and molecular level, as well as improve precision medicine approaches to combat this disease.

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“…The androgen receptor (AR), is a member of the superfamily of steroid hormone receptors that controls the effects of the testosterone hormone [9]. Cellular processes that react to androgens are critical for the production of spermatogenesis and the male phenotype,genetic modifications and mutations in spermatogenesis-related genes, such as the gene that encodes the androgen receptor (AR), can result in impaired spermatogenesis [10]. The single copy gene that codes for the AR is found on the X chromosome's long arm and mediates the action of androgens.…”

Section: Introductionmentioning

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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Androgen receptor gene CAG and GGN repeat lengths as predictors of recovery of spermatogenesis following testicular germ cell cancer treatment

Cited by 3 publications

References 38 publications

CAG repeat polymorphism in androgen receptor and infertility: A case-control study

CAG repeat polymorphism in androgen receptor and infertility: A case-control study

Current Insights into Interethnic Variability in Testicular Cancers: Population Pharmacogenetics, Clinical Trials, Genetic Basis of Chemotherapy- Induced Toxicities and Molecular Signal Transduction

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

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