Associations between androgen receptor CAG repeat length and sperm morphology

Milatiner, David; Halle, David; Huerta, Michael; Margalioth, Ehud J.; Cohen, Yoram; Ben-Chetrit, Avraham; Gal, M.; Mimoni, Tzvia; Eldar‐Geva, Talia

doi:10.1093/humrep/deh251

Cited by 36 publications

(37 citation statements)

References 39 publications

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“…Only two studies found in the literature reported about this issue. A Middle Eastern study demonstrated no association between CAG repeat length and sperm motility, (Milatiner et al, 2004) while the European study demonstrated that men with short AR alleles had lower sperm motility (Lazaros et al, 2008). These contradictory results can be attributed to the different ethnic background of studied population.…”

Section: Cag Repeats and Male Infertility In Egyptian Patientsmentioning

confidence: 88%

CAG repeat length in androgen receptor gene and male infertility in Egyptian patients

et al. 2011

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The CAG repeat and its association with infertility has been debatable. Therefore, this study was planned to assess the distribution of CAG repeat expansion in Egyptian patients and to investigate its association with male infertility. Forty-five infertile men were eligible for the study in addition to 20 aged-matched fertile males as control. Semen analysis, scrotal sonography, assay of serum testosterone, follicle-stimulating hormone (FSH) and luteinising hormone (LH), and determination of the CAG repeat number within exon 1 of the androgen receptor (AR) gene were carried out. Statistically significant difference was found between infertile and control groups regarding sperm count, sperm motility, serum FSH level and CAG repeats (P < 0.05); statistically insignificant difference for the CAG repeats (P = 1.0) was found between oligozoospermic and asthenospermic groups; negative correlation was found between CAG repeat length and sperm count, and a positive correlation was found between CAG repeat length and serum FSH (P < 0.05). Our results validate the concept that long stretches of CAG repeat may be associated with lower AR function with derangement of sperm production, and this may contribute to male infertility in Egyptian men.

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Section: Cag Repeats and Male Infertility In Egyptian Patientsmentioning

confidence: 88%

CAG repeat length in androgen receptor gene and male infertility in Egyptian patients

et al. 2011

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“…The AR‐CAG repeat region is unstable, and its length may sometimes undergo expansion or contraction during meiotic DNA replication. Mutations in the AR gene cause various degrees of androgen resistance, resulting in wide androgen insensitivity syndromes—from 46,XY sex‐reversed infertile women to phenotypically normal 46,XY infertile males with severe oligozoospermia or azoospermia (Mifsud et al, 2001; Wallerand et al, 2001; Milatiner et al, 2004). In vitro studies have demonstrated a negative correlation between CAG repeat size and AR function, especially in terms of transcriptional activity (Chamberlain et al, 1994).…”

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confidence: 99%

“…In vitro studies have demonstrated a negative correlation between CAG repeat size and AR function, especially in terms of transcriptional activity (Chamberlain et al, 1994). There are some clinical studies showing that longer CAG repeats are associated with defective spermatogenesis (Komori et al, 1999; Mifsud et al, 2001; Wallerand et al, 2001; Mengual et al, 2003; Milatiner et al, 2004; Katagiri et al, 2006); however, other studies have failed to show a significant correlation (Dadze et al, 2000; Thangaraj et al, 2002; Asatiani et al, 2003; Ruhayel et al, 2004; Singh et al; 2006). Since this association may be dependent on the population studied and local environmental conditions, we aimed to study the CAG repeat size in the Mexican population and determine if it correlates with abnormal sperm counts.…”

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confidence: 99%

Genetic Screening in Infertile Mexican Men: Chromosomal Abnormalities, Y Chromosome Deletions, and Androgen Receptor CAG Repeat Length

Martı́nez-Garza

Gallegos-Rivas

Vargas-Maciel

et al. 2008

Journal of Andrology

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In our study, we analyzed chromosomal abnormalities, Y chromosome deletions, androgen receptor CAG repeat length and their association with defective spermatogenesis in infertile Mexican men. Eighty-two infertile patients and 40 controls were screened for karyotypic abnormalities, Y chromosome microdeletions, and CAG repeats. Nine infertile males (11%) carried chromosomal abnormalities and 10 (12.2%) presented Y chromosome microdeletions. The mean CAG repeat length was 21.6 and 20.88 base pairs in idiopathic infertile males and controls, respectively. Our results suggest that chromosomal aberrations and Ychromosomal microdeletions are related to male infertility in Mexican men. In addition, expansion of the CAG repeat segments of the androgen receptor is not correlated with male idiopathic infertility.

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“…However, the Chinese study found an association between CAG repeat length and depressed spermatogenesis in an azoospermic subgroup only but not in a severely oligozoospermic group of patients. The most recent CAG expansion publications have reported no link between CAG repeat polymorphisms and male infertility in Israeli, German, Indian, Finnish, and Italian populations (Asatiani et al, 2003;Dhillon & Husain, 2003;Lund et al, 2003;Ferlin et al, 2004;Milatiner et al, 2004). The Israeli study did, however, demonstrate an association between CAG repeat length and a teratozoospermic (<30% with normal forms) subgroup.…”

Section: Discussionmentioning

confidence: 83%

CAG repeat length in an infertile male population of Irish origin

et al. 2005

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The androgen receptor (AR) gene, located on the X chromosome, is an important regulator of human spermatogenesis. In the past decade, the link between the CAG polyglutamine tract, situated on exon one of the AR gene, and reduced spermatogenesis has become a controversial one. Alterations in the length of the CAG polyglutamine tract have been associated with prostate cancer at a reduced intrinsic length and neuromuscular diseases at a CAG repeat length of > or = 40. Minimal intermediate increases have been linked with depressed spermatogenesis in infertile males. Asian and Australian groups have published an association between increased CAG repeat length and reduced spermatogenesis while many European studies have found no such association. The aim of this study was to document the association between increased CAG repeat length and reduced spermatogenesis in a group of Irish infertile males and controls known to have fathered at least one child. The study employed the ABI 377 DNA sequencer to size the CAG repeat region of exon one of the AR gene in each group. Statistical analysis revealed no actual link between the length of the CAG tract and a reduction of spermatogenesis in a cohort of infertile patients (n = 66) of Irish ethnic origin when compared to a fertile control group (n = 77) (p = 0.599).

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Associations between androgen receptor CAG repeat length and sperm morphology

Abstract: We found a positive correlation between CAG repeat length and teratozoospermia. This finding validates the concept that AR function is inversely regulated by length of its CAG repeat tract.

Cited by 36 publications

References 39 publications

CAG repeat length in androgen receptor gene and male infertility in Egyptian patients

CAG repeat length in androgen receptor gene and male infertility in Egyptian patients

Genetic Screening in Infertile Mexican Men: Chromosomal Abnormalities, Y Chromosome Deletions, and Androgen Receptor CAG Repeat Length

CAG repeat length in an infertile male population of Irish origin

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