No Evidence that 2D:4D is Related to the Number of CAG Repeats in the Androgen Receptor Gene

Objective: Cryptorchidism is the most common congenital birth defect in male children, and accumulating evidence suggests that genetic abnormalities may be associated with it. The androgen receptor has two polymorphic sites in exon 1, with different numbers of CAG and GGC repeats, resulting in variable lengths of polyglutamine and polyglycine stretches. Longer CAG repeats result in a reduced androgen receptor transcriptional activity, but the role of the GGC triplets is less clear. In this study we analysed CAG and GGC repeat lengths in men with a history of cryptorchidism, associated or not with impairment of sperm production, in comparison with normal fertile subjects. Methods: We analysed CAG and GGC repeat lengths in a group of 105 ex-cryptorchid men in comparison with 115 fertile non-cryptorchid men. Results: No difference was found between patients and controls in the mean and median values, and in distribution of CAG and GGC, when considered separately. However, the analysis of the joint distribution of CAG and GGC showed that some combinations are significantly more frequent in men with bilateral cryptorchidism (who frequently presented severe testiculopathies), in a manner similar to that found in idiopathic infertile subjects. Conclusions: Although further studies are needed to elucidate the possible role of specific CAG/GGC combinations as a causative factor, these data suggest a possible association between androgen receptor gene polymorphisms and cryptorchidism.

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

Andrologia ◽

10.1111/and.13728 ◽

2020 ◽

Vol 52 (9) ◽

Author(s):

Mazhar Salim Al Zoubi ◽

Hamzah Bataineh ◽

Mitri Rashed ◽

Bahaa Al‐Trad ◽

Alaa A. A. Aljabali ◽

...

Keyword(s):

Androgen Receptor ◽

Receptor Gene ◽

Androgen Receptor Gene ◽

Cag Repeats ◽

Infertile Men

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Cag Repeat Number in the Androgen Receptor Gene and Prostate Cancer

Balkan Journal of Medical Genetics ◽

10.2478/v10034-012-0005-z ◽

2012 ◽

Vol 15 (1) ◽

pp. 31-36 ◽

Cited By ~ 6

Author(s):

S Madjunkova ◽

A Eftimov ◽

V Georgiev ◽

D Petrovski ◽

A Dimovski ◽

...

Keyword(s):

Prostate Cancer ◽

Androgen Receptor ◽

Cancer Risk ◽

Receptor Gene ◽

Prostate Cancer Risk ◽

Androgen Receptor Gene ◽

Repeat Length ◽

Cag Repeat ◽

Cag Repeats ◽

Repeat Number

Cag Repeat Number in the Androgen Receptor Gene and Prostate CancerProstate 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 Polymorphism in the Androgen Receptor Gene in Women with Rheumatoid Arthritis

The Journal of Rheumatology ◽

10.3899/jrheum.110894 ◽

2011 ◽

Vol 39 (1) ◽

pp. 10-17 ◽

Cited By ~ 5

Author(s):

VIOLETTA DZIEDZIEJKO ◽

MATEUSZ KURZAWSKI ◽

KRZYSZTOF SAFRANOW ◽

ANDRZEJ OSSOWSKI ◽

JAROSLAW PIATEK ◽

...

Keyword(s):

Rheumatoid Arthritis ◽

Androgen Receptor ◽

White Women ◽

Receptor Gene ◽

Study Groups ◽

Androgen Receptor Gene ◽

Cag Repeat ◽

Cag Repeats ◽

Repeat Polymorphism ◽

Erosive Disease

Objective.Rheumatoid arthritis (RA) is the most common chronic, autoimmune, inflammatory disease, with a genetic and hormonal background. The prevalence of women among patients with RA suggests the important role of sex hormones in the pathogenesis of RA. We examined the association between CAG repeat polymorphism in the androgen receptor (AR) gene and susceptibility to RA and its clinical features in white women.Methods.The study groups consisted of 325 female patients with RA and 238 female controls. CAG repeat polymorphism was determined using polymerase chain reaction and subsequent fragment analysis by capillary electrophoresis.Results.The number of CAG repeats in patients did not differ from that of controls (22.1 ± 2.9 vs 21.9 ± 2.9, respectively; p = 0.26), but the presence of articular erosions was associated with a lower number of repeats in the shorter allele of patients with RA (20.4 ± 2.2 vs 21.2 ± 2.4; p = 0.031). When alleles with < 22 CAG were classified as short (S) and those with ≥ 22 CAG as long (L), the age at diagnosis of RA was lower in women with S-S genotype in comparison to combined S-L + L-L genotypes (43.0 ± 14.6 yrs vs 47.6 ± 12.5 yrs; p = 0.021). In patients with the L-L genotype, the frequency of erosive disease (OR 0.45, 95% CI 0.25–0.80, p = 0.0085) and extraarticular manifestations (OR 0.50, 95% CI 0.26–0.98, p = 0.047) was lower in comparison to carriers of the S allele. In multivariate analysis, the L-L genotype was an independent factor associated with a lower risk of erosions (OR 0.44, 95% CI 0.22–0.90, p = 0.024).Conclusion.The results suggest the association of short AR (CAG)n alleles with earlier onset and a more aggressive course of RA.

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