Cag Repeat Number in Androgen Receptor Gene and Male Infertility

Plaseski, Toso; Noveski, Predrag; Dimitrovski, Cedomir; Kocevska, B; Ефремов, Г. Д.; Plaseska-Karanfilska, D

doi:10.2478/v10034-007-0003-8

Cited by 5 publications

(6 citation statements)

References 17 publications

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“…The strong association between oligospermia and the length of the AR‐CAG repeats in the current cohort is consistent with previous studies (Fesai et al., 2009; Giagulli et al., 2014; Kukuvitis et al., 2002; Patrizio et al., 2001; Plaseski et al., 2007). In addition, the association of AR‐CAG repeats length with teratozoospermia is supporting previous studies (Marcelli, 2017; Milatiner et al., 2004).…”

Section: Discussionsupporting

confidence: 92%

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

et al. 2020

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CAG trinucleotide repeats are coded for the polyglutamine tract in the N-terminal of the androgen receptor (AR) gene which varies in normal individuals from 6 to 36 residues. In this study, we inspected the impact of the CAG repeats on the spermatogenic defects by measuring the size of AR-CAG repeats length in a cohort of 260infertile and 169 fertile Jordanian men. The infertile group included three subgroups of a zoospermic, oligozoospermic and teratozoospermia men. The CAG allele size was determined by direct sequencing. The results showed a significant association between the length of the AR-CAG repeats and men's infertility (p = .001). In particular, the current cohort demonstrated a significant association between the AR-CAG length polymorphism and oligozoospermia (p < .001) and teratozoospermia (p < .001) but not azoospermia. According to distributions of allele frequency, the risk of oligozoospermia was 5.5-fold greater than normal when alleles frequency > 20 repeats, while the risk of teratozoospermia was > 10.6 folds greater than normal when allele frequency > 22 repeats. In conclusion, our results underscored that the long repeats of the AR-CAG polymorphism within the normal range might be associated with abnormal spermatogenesis such as teratozoospermia and oligozoospermia and contributing to infertility in Jordanian men.

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Section: Discussionsupporting

confidence: 92%

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

et al. 2020

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“…There was no association between the POLG polymorphism and infertility in Macedonian men [17]. We found a significantly higher percentage of long CAG repeats in patients with mild oligozoospermia indicating the possible association of CAG repeat numbers in exon 1 of the AR gene and mild oligozoospermia [18]. Our preliminary results suggest that there is no association between the MTHFR C677T, MTHFR A1298C, MTR A2756G and MTRR A66G polymorphisms and male infertility.…”

Section: Introductionmentioning

confidence: 70%

Genetic Causes of Male Infertility

Plaseska‐Karanfilska¹,

Noveski²,

Plaseski³

et al. 2012

Balkan Journal of Medical Genetics

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“…The size of the PCR product was determined by capillary electrophoresis (CE) on an ABI PRISM™ 3130 Genetic Analyzer (Applied Biosystems, Foster City, CA, USA). The number of CAG repeats predicted by the Genescan software v.6 (Applied Biosystems) was compared with the actual CAG repeats determined by direct dideoxy terminator cycle sequencing using the BigDye Terminator Sequencing Kit v1.0 (Applied Biosystems) in male DNA samples as described previously [26]. …”

Section: Methodsmentioning

confidence: 99%

Cag Repeat Number in the Androgen Receptor Gene and Prostate Cancer

Madjunkova

Eftimov

Georgiev³

et al. 2012

Balkan Journal of Medical Genetics

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Prostate cancer (PC) is the second leading cause of cancer deaths in men. The effects of androgens on prostatic tissue are mediated by the androgen receptor (AR) gene. The 5′ end of exon 1 of the AR gene includes a polymorphic CAG triplet repeat that numbers between 10 to 36 in the normal population. The length of the CAG repeats is inversely related to the transactivation function of the AR gene. There is controversy over association between short CAG repeat numbers in the AR gene and PC. This retrospective case-control study evaluates the possible effect of short CAG repeats on the AR gene in prostate cancer risk in Macedonian males. A total of 392 male subjects, 134 PC patients, 106 patients with benign prostatic hyperplasia (BPH) and 152 males from the general Macedonian population were enrolled in this study. The CAG repeat length was determined by fluorescent polymerase chain reaction (PCR) amplification of exon1 of the AR gene followed by capillary electrophoresis (CE) on a genetic analyzer. The mean repeat length in PC patients was 21.5 ± 2.65, in controls 22.28 ± 2.86 (p = 0.009) and in BPH patients 22.1 ± 2.52 (p = 0.038). Short CAG repeats (<19) were found in 21.64% of PC patients vs. 9.43% in BPH patients (p = 0.0154). We also found an association of low Gleason score (<7) with short CAG repeat (<19) in PC patients (p = 0.0306), and no association between the age at diagnosis of PC and BPH and CAG repeat length. These results suggest that reduced CAG repeat length may be associated with increased prostate cancer risk in Macedonian men.

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Cag Repeat Number in Androgen Receptor Gene and Male Infertility

Cited by 5 publications

References 17 publications

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

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

Genetic Causes of Male Infertility

Cag Repeat Number in the Androgen Receptor Gene and Prostate Cancer

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