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.

Polymorphism of CAG Repeats in Exon 1 of the Androgen Receptor Gene in Russian Men with Various Forms of Pathozoospermia

2020 ◽  
Vol 56 (8) ◽  
pp. 1000-1005
Author(s):  
L. P. Melikyan ◽  
E. A. Bliznetz ◽  
A. V. Polyakov ◽  
O. L. Mironovich ◽  
I. A. Kuznetsova ◽  
...  
Keyword(s):  
Androgen Receptor ◽  
Receptor Gene ◽  
Androgen Receptor Gene ◽  
Cag Repeats ◽  
Exon 1

scholarly journals Cag Repeat Number in Androgen Receptor Gene and Male Infertility

2007 ◽  
Vol 10 (1) ◽  
pp. 19-24 ◽  
Author(s):  
T Plaseski ◽  
P Noveski ◽  
C Dimitrovski ◽  
B Kocevska ◽  
G Efremov ◽  
...  
Keyword(s):  
Androgen Receptor ◽  
Male Infertility ◽  
Receptor Gene ◽  
Androgen Receptor Gene ◽  
Cag Repeat ◽  
Cag Repeats ◽  
Control Group ◽  
Repeat Number ◽  
Number Of Patients ◽  
Exon 1

Cag Repeat Number in Androgen Receptor Gene and Male InfertilityAndrogens are essential for male sexual development and for fertility. They exert their action through the androgen receptor (AR), a ligandactivated transcription factor. The 5' end of exon 1 of the AR gene includes a polymorphic CAG triplet repeat that varies in number between 10 to 36 in the normal population. There is controversy over an association between high CAG repeat numbers in the AR gene and male infertility. We have evaluated the possible effect of long CAG repeats in the AR on infertility in men from the Republic of Macedonia (R. Macedonia). A group of 222 infertile/subfertile males with different sperm counts and a control group of 152 proven fathers were studied. The CAG repeat number was determined by fluorescent polymerase chain reaction (PCR) amplification of exon 1 of the AR gene analyzed by capillary electrophoresis. Mean CAG length did not differ significantly between males with azoospermia (22.0 ± 3.1), mild oligozoospermia (22.4 ± 2.6), severe oligozoospermia (23.0 ± 4.2), normozoospermia (21.8 ± 2.4), or known causes of infertility (22.1 ± 2.9) and fertile controls (22.3 ± 2.9). However, we found a significantly higher percentage of CAG repeats >26 (p = 0.022), >27 (p = 0.018) and >28 (p = 0.009) in males with mild oligozoospermia. These results indicate a possible association between CAG repeat length and mild oligozoospermia. Further studies on a larger number of patients with mild oligozoospermia are warranted to confirm this association.

scholarly journals Study of the effect of CAG polymorphism of the androgen receptor (AR) gene on spermatological parameters in Russian men

2020 ◽  
pp. 19-31
Author(s):  
Л.П. Меликян ◽  
Е.А. Близнец ◽  
М.И. Штаут ◽  
А.О. Седова ◽  
Т.М. Сорокина ◽  
...  
Keyword(s):  
Androgen Receptor ◽  
Seminal Fluid ◽  
Receptor Gene ◽  
Androgen Receptor Gene ◽  
Cag Repeats ◽  
Semen Parameters ◽  
Control Group ◽  
Cag Polymorphism ◽  
Exon 1 ◽  
Male Patients

Полиморфизм CAG-повторов в экзоне 1 гена андрогенового рецептора (AR/HUMARA) ассоциирован с патозооспермией и нарушением мужской фертильности, однако его влияние на сперматогенез и показатели семенной жидкости недостаточно изучено. В статье представлены результаты исследования влияния количества CAG-повторов гена AR на показатели спермограммы у российских мужчин с бесплодием в браке, связанным с патозооспермией (n=451), и у мужчин с нормозооспермией - контрольная группа (n=131). Не выявлено зависимости концентрации и общего количества сперматозоидов в эякуляте, доли (%) прогрессивно подвижных (PR), морфологически нормальных и живых сперматозоидов от количества CAG-повторов гена андрогенового рецептора. У пациентов с тератозооспермией количество CAG-повторов статистически значимо выше, чем у мужчин без тератозооспермии (22,37±3,20 против 22,15±3,12; р=0,02). Polymorphism of CAG repeats in exon 1 of the androgen receptor gene (AR/HUMARA) is associated with pathozoospermia and male sub-/infertility, but its effect on spermatogenesis and seminal fluid parameters is under evaluated. The article presents the results of a study of CAG repeats in AR gene on semen parameters in Russian male patients from infertile couples with pathozoospermia (n = 451), and in normozoospermic men, a control group (n = 131). The analysis of the groups revealed no dependence of the concentration indices, the total amount and amount (%) of progressively motile («PR»), morphologically normal and live spermatozoa from the number of CAG repeats of the AR gene. Teratozoospermic patients have statistically significantly higher number of CAG repeats, than men without teratozoospermia (22.37 ± 3.20 versus 22.15 ± 3.12; p = 0.02).

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