Association of polymorphisms in the estrogen receptors alpha, and beta (ESR1, ESR2) with the occurrence of male infertility and semen parameters

Journal of Steroid Biochemistry and Molecular Biology

Volumn 122, Issue 4, 2010, Pages 193-203

  Safarinejad, Mohammad Reza ^a   Shafiei, Nayyer ^a   Safarinejad, Shiva ^a  

^a Private Practice of Urology and Andrology   (Iran)

Author keywords

ER ; ER ; Estrogen receptor; Genetic; Infertility; Male factor; Polymorphism

Indexed keywords

ESTRADIOL; ESTROGEN RECEPTOR ALPHA; ESTROGEN RECEPTOR BETA; FOLLITROPIN; LUTEINIZING HORMONE; SEX HORMONE BINDING GLOBULIN; HORMONE;

ADULT; ARTICLE; CONTROLLED STUDY; GENOTYPE; HAPLOTYPE; HORMONE ACTION; HORMONE BLOOD LEVEL; HUMAN; IDIOPATHIC DISEASE; MAJOR CLINICAL STUDY; MALE; MALE INFERTILITY; RISK FACTOR; SEMEN ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM; SPERMATOZOON MOTILITY; BLOOD; GENETIC POLYMORPHISM; GENETICS; IRAN; METABOLISM; SPERM;

ADULT; ESTROGEN RECEPTOR ALPHA; ESTROGEN RECEPTOR BETA; GENOTYPE; HAPLOTYPES; HORMONES; HUMANS; INFERTILITY, MALE; IRAN; MALE; POLYMORPHISM, GENETIC; SEMEN;

EID: 77957278311     PISSN: 09600760     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jsbmb.2010.06.011     Document Type: Article

References (44)

1. Nieschlag E. Scopes and goals of andrology. Andrology: Male Reproductive Health and Dysfunction 2000, 1-8. Springer-Verlag, Heidelberg, Germany. E. Nieschlag, H.M. Behre (Eds.).
2. Watson C.E., Gauthier S.Y., Davies P.L. Structure and expression of the highly repetitive histone H1-related sperm chromatin proteins from winter flounder. Eur. J. Biochem. 1999, 262:258-267.
3. Atanassova N., McKinnell C., Turner K.J., Walker M., Fisher J.S., Morley M., Millar M.R., Groome N.P., Sharpe R.M. Comparative effects of neonatal exposure of male rats to potent and weak (environmental) estrogens on spermatogenesis at puberty and the relationship to adult testis size and fertility: evidence for stimulatory effects of low estrogen levels. Endocrinology 2000, 141:3898-3907.
4. Ponglikitmongkol M., Green S., Chambon P. Genomic organization of the human oestrogen receptor gene. EMBO J. 1988, 7:3385-3388.
5. Enmark E., Pelto-Huikko M., Grandien K., Lagercrantz S., Lagercrantz J., Fried G., Nordenskjöld M., Gustafsson J.A. Human estrogen receptor β gene structure, chromosomal localization, and expression pattern. J. Clin. Endocrinol. Metab. 1997, 82:4258-4265.
6. Menasce L.P., White G.R., Harrison C.J., Boyle J.M. Localization of the estrogen receptor locus (ESR) to chromosome 6q25.1 by FISH and a simple post-FISH banding technique. Genomics 1993, 17:263-265.
7. Ogawa S., Inoue S., Watanabe T., Hiroi H., Orimo A., Hosoi T., Ouchi Y., Muramatsu M. The complete primary structure of human estrogen receptor β (hERβ) and its heterodimerization with ERα in vivo and in vitro. Biochem. Biophys. Res. Commun. 1998, 243:122-126.
8. Hawkins M.B., Thornton J.W., Crews D., Skipper J.K., Dotte A., Thomas P. Identification of a third distinct estrogen receptor and reclassification of estrogen receptors in teleosts. Proc. Natl. Acad. Sci. U.S.A. 2000, 97:10751-10756.
9. Keene K.L., Mychaleckyj J.C., Smith S.G., Leak T.S., Perlegas P.S., Langefeld C.D., Herrington D.M., Freedman B.I., Rich S.S., Bowden D.W., Sale M.M. Comprehensive evaluation of the estrogen receptor alpha gene reveals further evidence for association with type 2 diabetes enriched for nephropathy in an African American population. Hum. Genet. 2008, 123:333-341.
10. Shearman A.M., Cupples L.A., Demissie S., Peter I., Schmid C.H., Karas R.H., Mendelsohn M.E., Housman D.E., Levy D. Association between estrogen receptor alpha gene variation and cardiovascular disease. JAMA 2003, 290:2263-2270.
11. Pollak A., Rokach A., Blumenfeld A., Rosen L.J., Resnik L., Dresner Pollak R. Association of oestrogen receptor alpha gene polymorphism with the angiographic extent of coronary artery disease. Eur. Heart. J. 2004, 25:240-245.
12. Rosenkranz K., Hinney A., Ziegler A., Hermann H., Fichter M., Mayer H., Siegfried W., Young J.K., Remschmidt H., Hebebrand J. Systematic mutation screening of the estrogen receptor gene in probands of different weight extremes: identification of several genetic variants. J. Clin. Endocrinol. Metab. 1998, 83:4524-4527.
13. O'Donnell L., Robertson K.M., Jones M.E., Simpson E.R. Estrogen and spermatogenesis. Endocr. Rev. 2001, 22:289-318.
14. Durkee T.J., Mueller M., Zinaman M. Identification of estrogen receptor protein and messenger ribonucleic acid in human spermatozoa. Am. J. Obstet. Gynecol. 1998, 178:1288-1297.
15. Lambard S., Galeraud-Denis I., Saunders P.T., Carreau S. Human immature germ cells and ejaculated spermatozoa contain aromatase and oestrogen receptors. J. Mol. Endocrinol. 2004, 32:279-289.
16. Eddy E.M., Washburn T.F., Bunch D.O., Goulding E.H., Gladen B.C., Lubahn D.B. Korach KS Targeted disruption of the estrogen receptor gene in male mice causes alteration of spermatogenesis and infertility. Endocrinology 1996, 137:4796-4805.
17. Ogawa S., Lubahn D.B., Korach K.S., Pfaff D.W. Behavioural effects of estrogen receptor gene disruption in male mice. Proc. Natl. Acad. Sci. U.S.A. 1997, 94:1476-1481.
18. Kukuvitis A., Georgiou I., Bouba I., Tsirka A., Giannouli C.H., Yapijakis C., Tarlatzis B., Bontis J., Lolis D., Sofikitis N., Papadimas J. Association of oestrogen receptor alpha polymorphisms and androgen receptor CAG trinucleotide repeats with male infertility: a study in 109 Greek infertile men. Int. J. Androl. 2002, 25:149-152.
19. Suzuki Y., Sasagawa I., Itoh K., Ashida J., Muroya K., Ogata T. Estrogen receptor alpha gene polymorphism is associated with idiopathic azoospermia. Fertil. Steril. 2002, 78:1341-1343.
20. Becherini L., Gennari L., Masi L., Mansani R., Massart F., Morelli A., Falchetti A., Gonnelli S., Fiorelli G., Tanini A., Brandi M.L. Evidence of a linkage disequilibrium between polymorphisms in the human estrogen receptor alpha gene and their relationship to bone mass variation in postmenopausal Italian women. Hum. Mol. Genet. 2000, 9:2043-2050.
21. Galan J.J., Buch B., Cruz N., Segura A., Moron F.J., Bassas L., Martinez-Pineiro L., Real L.M., Ruiz A. Multilocus analyses of estrogen-related genes reveal involvement of the ESR1 gene in male infertility and the polygenic nature of the pathology. Fertil. Steril. 2005, 84:910.
22. Guarducci E., Nuti F., Becherini L., Rotondi M., Balercia G., Forti G., Krausz C. Estrogen receptor alpha promoter polymorphism: stronger estrogen action is coupled with lower sperm count. Hum. Reprod. 2006, 21:994-1001.
23. Khattri A., Pandey R.K., Gupta N.J., Chakravarty B., Deenadayal M., Singh L., Thangaraj K. Estrogen receptor β gene mutations in Indian infertile men. Mol. Hum. Reprod. 2009, 15:513-520.
24. Aschim E.L., Giwercman A., Stahl O., Eberhard J., Cwikiel M., Nordenskjold A., Haugen T.B., Grotmol T., Giwercman Y.L. The RsaI polymorphism in the estrogen receptor-beta gene is associated with male infertility. J. Clin. Endocrinol. Metab. 2005, 90:5343-5348.
25. L.A. Lazaros, N.V. Xita, A.I. Kaponis, K.A. Zikopoulos, N.I. Plachouras, I.A. Georgiou, Estrogen receptor alpha and beta polymorphisms are associated with semen quality, J. Androl. (2009 December) [Epub ahead of print].
26. Maglott D., Ostell J., Pruitt K.D., Tatusova T. Entrez gene: gene-centered information at NCBI. Nucleic Acids Res. 2005, 33:D54-D58.
27. Tuttelmann F., Rajpert-De Meyts E., Nieschlag E., Simoni M. Gene polymorphisms and male infertility-a meta-analysis and literature review. Reprod. Biomed. Online 2007, 15:643-658.
28. O'Flynn O'Brien K.L., Varghese A.C., Agarwal A. The genetic causes of male factor infertility: a review. Fertil. Steril. 2010, 93:1-12.
29. WHO, World Health Organization Laboratory Manual for the Examination of Human Semen and Sperm±Cervical Mucus Interaction, Cambridge University Press, Cambridge, UK, 1999.
30. Vermeulen A., Verdonck L., Kaufman J.M. A critical evaluation of simple methods for the estimation of free testosterone in serum. J. Clin. Endocrinol. Metab. 1999, 84:3666-3672.
31. van den Beld A.W., de Jong F.H., Grobbee D.E., Pols H.A., Lamberts S.W. Measures of bioavailable serum testosterone and estradiol and their relationships with muscle strength, bone density, and body composition in elderly men. J. Clin. Endocrinol. Metab. 2000, 85:3276-3282.
32. Miller S.A., Dykes D.D., Polesky H.F. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res. 1988, 16:1215.
33. Rokach A., Pollak A., Rosen L., Friedlander Y., Blumenfeld A., Reznik L., Dresner-Pollak R. Estrogen receptor alpha gene polymorphisms are associated with the angiographic extent of coronary artery disease. J. Clin. Endocrinol. Metab. 2005, 90:6556-6560.
34. Nuti F., Krausz C. Gene polymorphisms/mutations relevant to abnormal spermatogenesis. Reprod. Biomed. Online 2008, 16:504-513.
35. Yoshida R., Fukami M., Sasagawa I., Hasegawa T., Kamatani N., Ogata T. Association of cryptorchidism with a specific haplotype of the estrogen receptor alpha gene: implication for the susceptibility to estrogenic environmental endocrine disruptors. J. Clin. Endocrinol. Metab. 2005, 90:4716-4721.
36. Galan J.J., Guarducci E., Nuti F., Gonzalez A., Ruiz M., Ruiz A., Krausz C. Molecular analysis of estrogen receptor alpha gene AGATA haplotype and SNP12 in European populations: potential protective effect for cryptorchidism and lack of association with male infertility. Hum. Reprod. 2007, 22:444-449.
37. Tschanter P., Kostova E., Luetjens C.M., Cooper T.G., Nieschlag E., Gromoll J. No association of the A260G and A386G DAZL single nucleotide polymorphisms with male infertility in a Caucasian population. Hum. Reprod. 2004, 19:2771-2776.
38. Becherini L., Guarducci E., Degl'Innocenti S., Rotondi M., Forti G., Krausz C. DAZL polymorphisms and susceptibility to spermatogenic failure: an example of remarkable ethnic differences. Int. J. Androl. 2004, 27:375-381.
39. Ioannidis J.P., Ntzani E.E., Trikalinos T.A., Contopoulos-Ioannidis D.G. Replication validity of genetic association studies. Nat. Genet. 2001, 29:306-309.
40. Hammond G.L. Access of reproductive steroids to target tissues. Obstet. Gynecol. Clin. North. Am. 2002, 29:411-423.
41. Pavlovich C.P., King P., Goldstein M., Schlegel P.N. Evidence of a treatable endocrinopathy in infertile men. J. Urol. 2001, 165:837-841.
42. Westberg L., Baghaei F., Rosmond R., Hellstrand M., Landén M., Jansson M., Holm G., Björntorp P., Eriksson E. Polymorphisms of the Androgen receptor gene and the estrogen receptor β gene are associated with androgen levels in women. J. Clin. Endocrinol. Metabol. 2001, 86:2562-2568.
43. Ascenzi P., Bocedi A., Marino M. Structure-function relationship of estrogen receptor α and β: impact on human health. Mol. Aspects. Med. 2006, 27:299-402.
44. Nyholt D.R. Genetic case-control association studies-correcting for multiple testing. Hum. Genet. 2001, 109:564-567.