Variants in follicle-stimulating hormone receptor gene in infertile Brazilian men and the correlation to FSH serum levels and sperm count

Reproductive Sciences

Volumn 19, Issue 7, 2012, Pages 733-739

  Ghirelli Filho, Milton ^a,b   Peluso, Carla ^a   Christofolini, Denise M ^a   Gava, Marcello M ^a,b   Glina, Sidney ^b   Barbosa, Caio P ^a   Bianco, Bianca ^a  

^a FACULDADE DE MEDICINA DO ABC   (Brazil)

^b Division of Urology   (Brazil)

Author keywords

follicle stimulating hormone; FSHR gene; male infertility; sperm count

Indexed keywords

FOLLITROPIN; FOLLITROPIN RECEPTOR;

ADULT; ARTICLE; AZOOSPERMIA; BRAZIL; CONTROLLED STUDY; FOLLITROPIN BLOOD LEVEL; GENE FREQUENCY; GENOTYPE; HAPLOTYPE; HUMAN; MAJOR CLINICAL STUDY; MALE; OLIGOSPERMIA; PRIORITY JOURNAL; REAL TIME POLYMERASE CHAIN REACTION; SINGLE NUCLEOTIDE POLYMORPHISM; SPERMATOZOON COUNT;

ADULT; AMINO ACID SUBSTITUTION; AZOOSPERMIA; BRAZIL; CASE-CONTROL STUDIES; FOLLICLE STIMULATING HORMONE, HUMAN; GENETIC ASSOCIATION STUDIES; HUMANS; MALE; MIDDLE AGED; OLIGOSPERMIA; POLYMORPHISM, SINGLE NUCLEOTIDE; RECEPTORS, FSH; SEVERITY OF ILLNESS INDEX; SPERM COUNT;

EID: 84863517065     PISSN: 19337191     EISSN: 19337205     Source Type: Journal    
DOI: 10.1177/1933719111432872     Document Type: Article

References (32)

1. Poongothai J, Gopenath TS, Manonayaki S. Genetics of human male infertility. Singapore Med J. 2009 ; 50 (4). 336-347
2. Ferlin A, Arredi B, Foresta C. Genetic causes of male infertility. Reprod Toxicol. 2006 ; 22 (2). 133-141
3. O'Flynn O'Brien KL, Varghese AC, Agarwal A. The genetic causes of male factor infertility: a review. Fertil Steril. 2010 ; 93 (1). 1-12
4. Li Y, Gu A, Yang H, et al. FSH receptor gene polymorphisms in fertile and infertile Han-Chinese males. ClinChim Acta. 2011 ; 412 (11-12). 1048-1052
5. Nieschlag E, Simoni M, Gromoll J, Weinbauer GF. Role of FSH in the regulation of spermatogenesis: clinical aspects. ClinEndocrinol (Oxf). 1999 ; 51 (2). 139-146
6. Simoni M, Nieschlag E, Gromoll J. Isoforms and single nucleotide polymorphisms of the FSH receptor gene: implications for human reproduction. Human Reprod Update. 2002 ; 8 (5). 413-421
7. Gromoll J, Simoni M. Genetic complexity of FSH receptor function. Trends Endocrinol Metab. 2005 ; 16 (8). 368-373
8. Wunsch A, Ahda Y, Banaz-Yasar F, et al. Single-nucleotide polymorphisms in the promoter region influence the expression of the human follicle-stimulating hormone receptor. Fertil Steril.. 2005 ; 84 (2). 446-453
9. Simoni M, Gromoll J, Hoppner W, et al. Mutational analysis of the follicle-stimulating hormone (FSH) receptor in normal and infertile men: identification and characterization of two discrete FSH receptor isoforms. J Clin Endocrinol Metab. 1999 ; 84 (2). 751-755
10. Selice R, Garolla A, Pengo M, Caretta N, Ferlin A, Foresta C. The response to FSH treatment in oligozoospermic men depends on FSH receptor gene polymorphisms. Int J Androl. 2011 ; 34 (4). 306-312
11. Balkan M, Gedik A, Akkoc H, et al. FSHR single nucleotide polymorphism frequencies in proven fathers and infertile men in Southeast Turkey. J Biomed Biotechnol. 2010 ; 640318: 2010
12. Lend AK, Belousova A, Haller-Kikkatalo K, et al. Follicle-stimulating hormone receptor gene haplotypes and male infertility in estonian population and meta-analysis. Syst Biol Reprod Med. 2010 ; 56 (1). 84-90
13. Safarinejad MR, Shafiei N, Safarinejad S. Evaluating the role of the FSH receptor gene Thr(307) -Ala and Asn(680) -Ser polymorphisms in male infertility and their association with semen quality and reproductive hormones. BJU Int. 2011 ; 108 (2 pt 2). E117 - E125
14. Shimoda C, Koh E, Yamamoto K, et al. Single nucleotide polymorphism analysis of the follicle-stimulating hormone (FSH) receptor in Japanese with male infertility: identification of codon combination with heterozygous variations of the two discrete FSH receptor gene. Endocr J. 2009 ; 56 (7). 859-865
15. Zalata AA, Hassan AH, Nada HA, Bragais FM, Agarwal A, Mostafa T. Follicle-stimulating hormone receptor polymorphism and seminal anti-Müllerian hormone in fertile and infertile men. Andrologia. 2008 ; 40 (6). 392-397
16. Pengo M, Ferlin A, Arredi B, et al. FSH receptor gene polymorphisms in fertile and infertile Italian men. Reprod Biomed Online. 2006 ; 13 (6). 795-800
17. Ahda Y, Gromoll J, Wunsch A, et al. Follicle-stimulating hormone receptor gene haplotype distribution in normozoospermic and azoospermic men. J Androl. 2005 ; 26 (4). 494-499
18. Tuerlings JH, Ligtenberg MJ, Kremer JA, et al. Screening male intracytoplasmic sperm injection candidates for mutations of the follicle stimulating hormone receptor gene. Hum Reprod. 1998 ; 13 (8). 2098-2101
19. Greb RR, Grieshaber K, Gromoll J, et al. A common single nucleotide polymorphism in exon 10 of the human follicle stimulating hormone receptor is a major determinant of length and hormonal dynamics of the menstrual cycle. J Clin Endocrinol Metab. 2005 ; 90 (8). 4866-4872
20. Perez Mayorga M, Gromoll J, Behre HM, Gassner C, Nieschlag E, Simoni M. Ovarian response to follicle-stimulating hormone (FSH) stimulation depends on the FSH receptor genotype. J Clin Endocrinol Metab. 2000 ; 85 (9). 3365-3369
21. de Castro F, Ruiz R, Montoro L, et al. Role of follicle-stimulating hormone receptor Ser680Asn polymorphism in the efficacy of follicle-stimulating hormone. Fertil Steril. 2003 ; 80 (3). 571-576
22. Rao AJ, Ramachandra SG, Ramesh V, et al. Induction of infertility in adult male bonnet monkeys by immunization with phage-expressed peptides of the extracellular domain of FSH receptor. Reprod Biomed Online. 2004 ; 8 (4). 385-391
23. Grover A, Sairam MR, Smith CE, Hermo L. Structural and functional modifications of sertoli cells in the testis of adult follicle-stimulating hormone receptor knockout mice. Biol Reprod. 2004 ; 71 (1). 117-129
24. WHO laboratory manual for the examination of human semen and semen-cervical mucus interaction. 14 th ed. Cambridge, MA: Cambridge University Press; 1999. Cambridge, MA: Cambridge University Press ; 1999 :
25. Lahiri DK, Numberger JI. A rapid non-enzymatic method for preparation of HMW DNA from blood for RFLP studies. Nuclei Acids Res. 1991 ; 19 (19). 5444
26. Purcell S, Cherny SS, Sham PC. Genetic Power Calculator: design of linkage and association genetic mapping studies of complex traits. Bioinformatics. 2003 ; 19 (1). 149-150
27. Khoury MJ, Gwinn M, Yoon PW, Dowling N, Moore CA, Bradley L. The continuum of translation research in genomic medicine: how can we accelerate the appropriate integration of human genome discoveries into health care and disease prevention?. Genet Med. 2007 ; 9 (10). 665-674
28. Aittomaki K, Lucena JL, Pakarinen P, et al. Mutation in the follicle-stimulating hormone receptor gene causes hereditary hypergonadotropic ovarian failure. Cell. 1995 ; 82 (6). 959-968
29. Foresta C, Selice R, Ferlin A, Arslan P, Garolla A.. Hormonal treatment of male infertility: FSH. Reprod Biomed Online. 2007 ; 15 (6). 666-672
30. Foresta C, Selice R, Garolla A, Ferlin A. Follicle-stimulating hormone treatment of male infertility. Curr Opin Urol. 2008 ; 18 (6). 602-607
31. Meduri G, Bachelot A, Cocca MP, et al. Molecular pathology of the FSH receptor: new insights into FSH physiology. Mol Cell Endocrinol. 2008 ; 282 (1-2). 130-142
32. Grigorova M, Punab M, Poolamets O, et al. Increased Prevalance of the -211 T allele of follicle stimulating hormone (FSH) beta subunit promoter polymorphism and lower serum FSH in infertile men. J Clin Endocrinol Metab. 2010 ; 95 (1). 100-108