FSH receptor gene polymorphisms in fertile and infertile Italian men

Reproductive BioMedicine Online

Volumn 13, Issue 6, 2006, Pages 795-800

  Pengo, Manuel ^a   Ferlin, Alberto ^a   Arredi, Barbara ^a   Ganz, Francesco ^a   Selice, Riccardo ^a   Garolla, Andrea ^a   Foresta, Carlo ^a  

^a UNIVERSITY OF PADOVA   (Italy)

Author keywords

FSH; FSH receptor; Male infertility; Polymorphism; Spermatogenesis

Indexed keywords

ANDROGEN; DNA; FOLLITROPIN; FOLLITROPIN RECEPTOR; LUTEINIZING HORMONE; TESTOSTERONE;

ALLELE; ANDROGEN BLOOD LEVEL; ARTICLE; AZOOSPERMIA; CODON; CONTROLLED STUDY; DISEASE CLASSIFICATION; DISEASE SEVERITY; EXON; FOLLITROPIN BLOOD LEVEL; GENE FREQUENCY; GENETIC VARIABILITY; GENOTYPE; HORMONE DETERMINATION; HUMAN; IN VIVO STUDY; ITALY; LUTEINIZING HORMONE BLOOD LEVEL; MAJOR CLINICAL STUDY; MALE; MALE INFERTILITY; OLIGOSPERMIA; POLYMERASE CHAIN REACTION; PROMOTER REGION; RECEPTOR SENSITIVITY; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SINGLE NUCLEOTIDE POLYMORPHISM; SPERMATOGENESIS; TESTOSTERONE BLOOD LEVEL;

EID: 33845880946     PISSN: 14726483     EISSN: None     Source Type: Journal    
DOI: 10.1016/S1472-6483(10)61026-7     Document Type: Article

References (23)

1. Ahda Y, Gromoll J, Wunsch A et al. 2005 Follicle-stimulating hormone receptor gene haplotype distribution in normozoospermic and azoospermic men. Journal of Andrology 26, 494-499.
2. Aittomaki K, Lucena JL, Pakarinen P et al. 1995 Mutation in the follicle-stimulating hormone receptor gene causes hereditary hypergonadotropic ovarian failure. Cell 82, 959-968.
3. Asatiani K, Gromoll J, Eckardstein SV et al. 2002 Distribution and function of FSH receptor genetic variants in normal men. Andrologia 34, 172-176.
4. Behre HM, Greb RR, Mempel A et al. 2005 Significance of a common single nucleotide polymorphism in exon 10 of the follicle-stimulating hormone (FSH) receptor gene for the ovarian response to FSH: a pharmacogenetic approach to controlled ovarian hyperstimulation. Pharmacogenetics 15, 451-456.
5. de Castro F, Moron FJ, Montoro L et al. 2003 Role of follicle-stimulating hormone receptor Ser680Asn polymorphism in the efficacy of follicle-stimulating hormone. Fertility and Sterility 80, 571-576.
6. Ferlin A, Tessari A, Ganz F et al. 2005 Association of partial AZFc region deletions with spermatogenic impairment and male infertility. Journal of Medical Genetics 42, 209-213.
7. Greb R, Grieshaber K, Gromoll J et al. 2005 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. Journal of Clinical Endocrinology and Metabolism 90, 4866-4872.
8. Gromoll J, Simoni M 2005 Genetic complexity of FSH receptor function. Trends in Endocrinology and Metabolism 16, 368-373.
9. Gromoll J, Pekel E, Nieschlag E 1996 The structure and organization of the human follicle-stimulating hormone receptor (FSHR) gene. Genomics 35, 308-311.
10. Gromoll J, Ried T, Holtgreve-Grez H et al. 1994a Localization of the human FSH receptor to chromosome 2p21 using a genomic probe encoding exon ten. Journal of Molecular Endocrinology 12, 265-271.
11. Gromoll J, Dankbar B, Gudermann T 1994b Characterization of the 5′ flanking region of the human follicle-stimulating hormone receptor gene. Molecular and Cellular Endocrinology 102, 93-102.
12. Liu JY, Gromoll J, Cedars MI, La Barbera AR 1998 Identification of allelic variants in the follicle-stimulating hormone receptor genes of females with or without hypergonadotropic amenorrhea. Fertility and Sterility 70, 326-331.
13. Nieschlag E, Simoni M, Gromoll J, Weinbauer GF 1999 Role of the FSH in the regulation of spermatogenesis: clinical aspects. Clinical Endocrinology 51, 139-146.
14. Perez Mayorga M, Gromoll J, Behre HM et al. 2000 Ovarian response to follicle-stimulating hormone (FSH) stimulation depends on the FSHR receptor genotype. Journal of Clinical Endocrinology and Metabolism 85, 3365-3369.
15. Putowski LT 2004 Human follicle-stimulating hormone receptor promoter/ enhancer activity is inhibited by transcriptional factors, from the upstream stimulating factors family, via E-box and newly identified initiator element (Inr) in FSHR non-expressing cells. Gynecological Endocrinology 19, 9-17.
16. Simoni M, Nieschlag E, Gromoll J 2002 Isoforms and single nucleotide polymorphisms of the FSH receptor gene: implications for human reproduction. Human Reproduction Update 8, 413-421.
17. Simoni M, Gromoll J, Höpner W et al. 1999 Mutational analysis of the follicle-stimulating hormone (FSH) receptor in normal and infertile men: identification and characterization of two discrete FSH receptor isoforms. Journal of Clinical Endocrinology and Metabolism 84, 751-755.
18. Simom M, Gromoll J, Nieschlag E 1997 The follicle-stimulating hormone receptor: biochemistry, molecular biology, physiology and pathophysiology. Endocrine Reviews 18, 739-773.
19. Song GJ, Park YS, Lee HS et al. 2001 Mutation screening of the FSH receptor gene in infertile men. Molecules and Cells 12, 292-297.
20. Sudo S, Kudo M, Wada S et al. 2002 Genetic and functional analyses of polymorphisms in the human FSH receptor gene. Molecular Human Reproduction 8, 893-899.
21. Tapanainen JS, Aittomaki K, Min J et al. 1997 Men homozygous for an inactivating mutation of the follicle-stimulating hormone (FSH) receptor gene present variable suppression of spermatogenesis and fertility. Nature Genetics 15, 205-206.
22. World Health Organization 1999 WHO Laboratory Manual for the Examination of Human Semen and Sperm-Cervical Mucus Interaction. Cambridge University Press, Cambridge, UK.
23. Wunsch A, Ahda Y, Banaz-Yaşar F et al. 2005 Single-nucleotide polymorphisms in the promoter region influence the expression of the human follicle-stimulating hormone receptor. Fertility and Sterility 84, 446-453.