Have androgen receptor gene CAG and GGC repeat polymorphisms an effect on sperm motility in infertile men?

Andrologia

Volumn 46, Issue 5, 2014, Pages 564-569

  delli Muti, N ^a   Agarwal, A ^b   Buldreghini, E ^a   Gioia, A ^a   Lenzi, A ^c   Boscaro, M ^a   Balercia, G ^a  

^a UNIVERSITÀ POLITECNICA DELLE MARCHE   (Italy)

^b LERNER RESEARCH INSTITUTE   (United States)

^c SAPIENZA UNIVERSITY OF ROME   (Italy)

Author keywords

Androgen receptor; Asthenozoospermia; CAG GGC repeats; Male infertility; Sperm motility

Indexed keywords

ANDROGEN RECEPTOR; GENOMIC DNA; PRIMER DNA;

ADULT; ARTICLE; CAG REPEAT; CAUCASIAN; CLINICAL ARTICLE; CONTROLLED STUDY; DNA STRUCTURE; GENE FREQUENCY; GENETIC POLYMORPHISM; GGC REPEAT; HUMAN; MALE; MALE INFERTILITY; POLYMERASE CHAIN REACTION; RECEPTOR GENE; SEMEN ANALYSIS; SPERMATOGENESIS; SPERMATOZOON MOTILITY; TRINUCLEOTIDE REPEAT; ALLELE; GENETICS; NUCLEOTIDE SEQUENCE;

ALLELES; BASE SEQUENCE; DNA PRIMERS; HUMANS; INFERTILITY, MALE; MALE; POLYMERASE CHAIN REACTION; POLYMORPHISM, GENETIC; RECEPTORS, ANDROGEN; SPERM MOTILITY; TRINUCLEOTIDE REPEATS;

EID: 84893867470     PISSN: 03034569     EISSN: 14390272     Source Type: Journal    
DOI: 10.1111/and.12119     Document Type: Article

References (24)

1. Beilin J, Ball EM, Favaloro JM, Zajac JD (2000) Effect of the androgen receptor CAG repeat polymorphism on transcriptional activity: specificity in prostate and non-prostate cell lines. J Mol Endocrinol 25:85-96.
2. Brooks BP, Fischbeck KH (1995) Spinal and bulbar muscular atrophy: a trinucleotide-repeat expansion neurodegenerative disease. Trends Neurosci 18:459-461.
3. Castro-Nallar E, Bacallao K, Parada-Bustamante A, Lardone MC, López PV, Madariaga M, Valdevenito R, Piottante A, Ebensperger M, Castro A (2010) Androgen receptor gene CAG and GGN repeat polymorphisms in Chilean men with primary severe spermatogenic failure. J Androl 31:552-559.
4. Crabbe P, Bogaert V, De Bacquer D, Goemaere S, Zmierczak H, Kaufman JM (2007) Part of the interindividual variation in serum testosterone levels in healthy men reflects differences in androgen sensitivity and feedback set point: contribution of the androgen receptor polyglutamine tract polymorphism. J Clin Endocrinol Metab 92:3604-3610.
5. Davis-Dao CA, Tuazon ED, Sokol RZ, Cortessis VK (2007) Male infertility and variation in CAG repeat length in the androgen receptor gene: a meta-analysis. J Clin Endocrin Metab 92:4319-4326.
6. Ferlin A, Bartoloni L, Rizzo G, Roverato A, Garolla A, Foresta C (2004) Androgen receptor gene CAG and GGC repeat lengths in idiopathic male infertility. Mol Hum Reprod 10:417-421.
7. Gao T, Marcelli M, McPhaul MJ (1996) Transcriptional activation and transient expression of the human androgen receptor. J Steroid Biochem Mol Biol 59:9-20.
8. Hiort O, Holterhus PM, Horter T, Schulze W, Kremke B, Bals-Pratsch M, Sinnecker GH, Kruse K (2000) Significance of mutations in th androgen receptor gene in males with idiopathic infertility. J Clin Endocrinol Metab 85:2810-2815.
9. Jenster G, Van der Korput HAGM, Van Vroonhoven C, Van der Kwast TH, Trapman J, Brinkman AO (1991) Domains of the androgen receptor involved in steroid binding transcriptional activation, and subcellular localisation. Mol Endocrinol 5:1396-1404.
10. Kazemi-Esfarjani P, Trifiro MA, Pinsky L (1995) Evidence for repressive function of the long polyglutamine tract in the human androgen receptor: possible pathogenetic relevance for the (CAG)n expanded neuronopathies. Hum Mol Genet 4:523-527.
11. Lumbroso R, Beitel LK, Vasiliou DM, Trifiro MA, Pinsky L (1997) Codon-usage variants in the polymorphic (GGN)n trinucleotide repeat of the human androgen receptor gene. Hum Genet 101:43-46.
12. Lundin KB, Giwercman A, Richthoff J, Abrahamsson PA, Giwercman YL (2003) No association between mutations in the human androgen receptor GGN repeat and inter-sex conditions. Mol Hum Reprod 9:375-379.
13. Lundin KB, Giwercman A, Dizeyi N, Giwercman YL (2007) Functional in vitro characterisation of the androgen receptor GGN polymorphism. Mol Cell Endocrinol 264:184-187.
14. Nenonen H, Bjork C, Skjaerpe PA, Giwercman A, Rylander L, Svartberg J, Giwercman YL (2010) CAG repeat number is not inversely associated with androgen receptor activity in vitro. Mol Hum Reprod 16:153-157.
15. Palazzolo I, Gliozzi A, Rusmini P, Sau D, Crippa V, Simonini F, Onesto E, Bolzoni E, Poletti A (2008) The role of the polyglutamine tract in androgen receptor. J Steroid Biochem Mol Biol 108:245-253.
16. Patrizio P, Leonard DG, Chen KL, Hernandez-Ayup S, Trounson AO (2001) Larger trinucleotide repeat size in the androgen receptor gene of infertile men with extremely severe oligozoospermia. J Androl 22:444-448.
17. Quigley CA, De Bellis A, Marschke KB, el-Awady MK, Wilson EM, French FS (1995) Androgen receptor defects: historical, clinical, and molecular perspectives. Endocr Rev 16:271-321.
18. Ruhayel Y, Lundin K, Giwercman Y, Hallden C, Willen M, Giwercman A (2004) Androgen receptor gene GGN and CAG polymorphisms among severely oligozoospermic and azoospermic Swedish men. Hum Reprod 19:2076-2083.
19. Simental JA, Sar M, Lane MV, French FS, Wilson EM (1991) Transcriptional activation and nuclear targeting signals of the human androgen receptor. J Biol Chem 266:510-518.
20. Tut TG, Ghadessy FJ, Trifiro MA, Pinsky L, Yong EL (1997) Long polyglutamine tracts in the androgen receptor are associated with reduced trans-activation, impaired sperm production, and male infertility. J Clin Endocrinol Metab 82:3777-3782.
21. Wallerand H, Rémy-Martin A, Chabannes E, Bermont L, Adessi GL, Bittard H (2001) Relationship between expansion of the CAG repeat in exon 1 of the androgen receptor gene and idiopathic male infertility. Fertil Steril 76:769-774.
22. Westerveld H, Visser L, Tanck M, van der Veen F, Repping S (2008) CAG repeat length variation in the androgen receptor gene is not associated with spermatogenic failure. Fertil Steril 89:253-259.
23. World Health Organization (2010) WHO Laboratory Manual for the Examination of Human Semen and Sperm-Cervical Mucus Interaction, 5th edn. Cambridge University Press, Cambridge, UK.
24. Zirkin BR, Santuli R, Awoniyi CA, Ewing LL (1989) Maintenance of advanced spermatogenic cells in the adult rat testis: quantitative relationship to testosterone concentration within the testis. Endocrinology 124:3043-3049.