CAG repeats and one polymorphism in androgen receptor gene are associated with renal calcium stone disease

2021 ◽  
pp. 039156032110178
Author(s):  
Abbas Basiri ◽  
Mohammad Naji ◽  
Massoud Houshmand ◽  
Nasser Shakhssalim ◽  
Banafsheh Golestan ◽  
...  
Keyword(s):  
Androgen Receptor ◽  
Receptor Gene ◽  
Renal Stones ◽  
Stone Disease ◽  
Cag Repeats ◽  
Coding Region ◽  
Single Strand Conformational Polymorphism ◽  
Genetic Sequencing ◽  
Calcium Stone ◽  
Intron 4

Purpose: Evidence suggests that androgens can be involved in the pathogenesis of renal stones. This study aimed at investigating coding region polymorphisms and CAG repeats in androgen receptor (AR) and their association with active renal calcium stone disease. Materials and Methods: Male patients with calcium kidney stones ( N = 106) with at least two episodes of stone recurrence or size increase during the past 5 years (ASF) were enrolled from December 2008 to April 2009. Control individuals were recruited after matching for age and gender from healthy individuals without current stone or history of stone disease. Genetic sequencing and single strand conformational polymorphism (SSCP) were used to determine AR polymorphisms in the patients and controls. Results: Two polymorphisms were identified in the AR gene: Silent G to A polymorphism in the first exon of the AR gene and C to G polymorphism in intron 4. CAG repeats ranged from 12 to 37. The C/G polymorphism in intron 4 and CAG repeats were associated with the status of active renal calcium stone disease (all p < 0.05). The CC variant of C/G polymorphism was not observed in patients with stone disease. CAG repeats less than 20 and more than 28 were mostly observed in ASF patients ( p < 0.05). Conclusions: CAG repeats and intron 4 C/G polymorphism in the AR gene have an association with renal calcium stone disease.

Coding region analysis of vitamin D receptor gene and its association with active calcium stone disease

2011 ◽  
Vol 40 (1) ◽  
pp. 35-40 ◽  
Author(s):  
Abbas Basiri ◽  
Nasser Shakhssalim ◽  
Massoud Houshmand ◽  
Amir H. Kashi ◽  
Mohaddeseh Azadvari ◽  
...  
Keyword(s):  
Vitamin D ◽  
Vitamin D Receptor ◽  
Receptor Gene ◽  
Stone Disease ◽  
Vitamin D Receptor Gene ◽  
Coding Region ◽  
Calcium Stone ◽  
Region Analysis ◽  
Active Calcium

2142 CODING REGION ANALYSIS OF VITAMIN D RECEPTOR GENE AND ITS ASSOCIATION WITH ACTIVE CALCIUM STONE DISEASE

2011 ◽  
Vol 185 (4S) ◽  
Author(s):  
Abbas Basiri ◽  
Nasser Shakhssalim ◽  
Massoud Houshmand ◽  
Amir Kashi ◽  
Hamid Pakmanesh
Keyword(s):  
Vitamin D ◽  
Vitamin D Receptor ◽  
Receptor Gene ◽  
Stone Disease ◽  
Vitamin D Receptor Gene ◽  
Coding Region ◽  
Calcium Stone ◽  
Region Analysis ◽  
Active Calcium

scholarly journals Hypospadiasis előfordulása öt fivérben

2015 ◽  
Vol 156 (33) ◽  
pp. 1348-1352
Author(s):  
Stelios Mavrogenis ◽  
Endre Czeizel
Keyword(s):  
Androgen Receptor ◽  
Receptor Gene ◽  
Androgen Receptor Gene ◽  
Androgen Insensitivity Syndrome ◽  
Cag Repeat ◽  
Coding Region ◽  
Mild Form ◽  
Normal Range ◽  
Familial Cluster ◽  
Genetic Institute

The healthy couple had five sons with hypospadias (glandular 1, coronal 4) without other child. Similar familial cluster has not reported in the sons of European parents without consanguinity. Mild form androgen insensitivity syndrome was expected in these 5 boys because of the X-linked androgen receptor gene, however, sequencing of the entire coding region (exons 1-8) and all intron-exon boundaries of the androgen receptor gene did not reveal abnormality and the CAG repeat was found in the normal range (21 repeats). This extreme familial cluster may help us to elucidate gene polymorphisms in the polygenic background of the multifactorial origin of isolated hypospadias. Therefore, the authors collaborate with a genetic institute in Pittsburg, USA to perform whole genome sequencing in these probands and their parents. Orv. Hetil., 2015, 156(33), 1348–1352.

scholarly journals Androgen receptor gene CAG and GGC repeat lengths in cryptorchidism

2005 ◽  
Vol 152 (3) ◽  
pp. 419-425 ◽  
Author(s):  
Alberto Ferlin ◽  
Andrea Garolla ◽  
Andrea Bettella ◽  
Lucia Bartoloni ◽  
Cinzia Vinanzi ◽  
...  
Keyword(s):  
Androgen Receptor ◽  
Receptor Gene ◽  
Causative Factor ◽  
Androgen Receptor Gene ◽  
Cag Repeats ◽  
Exon 1 ◽  
History Of ◽  
Receptor Gene Polymorphisms ◽  
Congenital Birth Defect

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.

scholarly journals Polymorphisms of the Androgen Receptor Gene and the Estrogen Receptor β Gene Are Associated with Androgen Levels in Women1

2001 ◽  
Vol 86 (6) ◽  
pp. 2562-2568 ◽  
Author(s):  
Lars Westberg ◽  
Fariba Baghaei ◽  
Roland Rosmond ◽  
Monika Hellstrand ◽  
Mikael Landén ◽  
...  
Keyword(s):  
Estrogen Receptor ◽  
Androgen Receptor ◽  
Receptor Gene ◽  
Premenopausal Women ◽  
Cag Repeat ◽  
Cag Repeats ◽  
Total Testosterone ◽  
Repeat Polymorphism ◽  
Ca Repeat ◽  
Androgen Levels

To elucidate the possible role of genetic variation in androgen receptor (AR), estrogen receptor α (ERα), and ERβ on serum androgen levels in premenopausal women, the CAG repeat polymorphism of the AR gene, the TA repeat polymorphism of the ERα gene, and the CA repeat polymorphism of the ERβ gene were studied in a population-based cohort of 270 women. Total testosterone, free testosterone, dehydroepiandrosterone sulfate, androstenedione, 17-hydroxyprogesterone, 3α-androstanediol glucuronide, 17β-estradiol, LH, FSH, and sex steroid hormone-binding globulin (SHBG) were measured in serum samples obtained in the follicular phase of the menstrual cycle. Women with relatively few CAG repeats in the AR gene, resulting in higher transcriptional activity of the receptor, displayed higher levels of serum androgens, but lower levels of LH, than women with longer CAG repeat sequences. The CA repeat of the ERβ gene also was associated with androgen and SHBG levels; women with relatively short repeat regions hence displayed higher hormone levels and lower SHBG levels than those with many CA repeats. In contrast, the TA repeat of the ERα gene was not associated with the levels of any of the hormones measured. Our results suggest that the serum levels of androgens in premenopausal women may be influenced by variants of the AR gene and the ERβ gene, respectively.

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

Andrologia ◽  
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

scholarly journals Cag Repeat Number in the Androgen Receptor Gene and Prostate Cancer

2012 ◽  
Vol 15 (1) ◽  
pp. 31-36 ◽  
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.

CAG Repeat Polymorphism in the Androgen Receptor Gene in Women with Rheumatoid Arthritis

2011 ◽  
Vol 39 (1) ◽  
pp. 10-17 ◽  
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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