The −29G/A FSH receptor gene polymorphism is associated with higher FSH and LH levels in normozoospermic men

Journal of Assisted Reproduction and Genetics

Volumn 34, Issue 10, 2017, Pages 1289-1294

  Tamburino, L ^a   La Vignera, S ^a   Tomaselli, V ^b   Condorelli, R A ^a   Cannarella, R ^a   Mongioi L M ^a   Calogero, A E ^a  

^a UNIVERSITY OF CATANIA   (Italy)

^b UNIVERSITY OF CATANIA   (Italy)

Author keywords

FSH; FSHR 29G a; Infertility; LH; Polymorphism; Sperm parameters

Indexed keywords

FOLLITROPIN; FOLLITROPIN RECEPTOR; GENOMIC DNA; LUTEINIZING HORMONE; TESTOSTERONE;

ADULT; ARTICLE; BODY MASS; DNA POLYMORPHISM; FOLLITROPIN BLOOD LEVEL; GENE FREQUENCY; GENETIC VARIABILITY; GENETIC VARIATION; GENOTYPE; HETEROZYGOTE; HOMOZYGOTE; HUMAN; LUTEINIZING HORMONE BLOOD LEVEL; MAJOR CLINICAL STUDY; MALE; MALE INFERTILITY; PRIORITY JOURNAL; PROMOTER REGION; SPERM; TESTIS; TESTOSTERONE BLOOD LEVEL; BLOOD; GENETICS; ITALY; PHYSIOLOGY; SINGLE NUCLEOTIDE POLYMORPHISM; SPERMATOZOON;

ADULT; BODY MASS INDEX; FOLLICLE STIMULATING HORMONE; GENE FREQUENCY; HUMANS; ITALY; LUTEINIZING HORMONE; MALE; POLYMORPHISM, SINGLE NUCLEOTIDE; RECEPTORS, FSH; SPERMATOZOA; TESTOSTERONE;

EID: 85020499531     PISSN: 10580468     EISSN: 15737330     Source Type: Journal    
DOI: 10.1007/s10815-017-0970-y     Document Type: Article

References (21)

1. Chun SY, Eisenhauer KM, Minami S, Billig H, Perlas E, Hsueh AJ. Hormonal regulation of apoptosis in early antral follicles: follicle-stimulating hormone as a major survival factor. Endocrinology. 1996;137:1447–56.
2. Ruwanpura SM, McLachlan RI, Meachem SJ. Hormonal regulation of male germ cell development. J Endocrinol. 2010;205(2):117–31.
3. Nieschlag E, Simoni M, Gromoll J, Weinbauer GF. Role of FSH in the regulation of spermatogenesis: clinical aspects. Clin Endocrinol. 1999;51(2):139–46.
4. Plant TM, Marshall GR. The functional significance of FSH in spermatogenesis and the control of its secretion in male primates. Endocr Rev. 2001;22(6):764–86.
5. Fan QR, Hendrickson WA. Structure of human follicle-stimulating hormone in complex with its receptor. Nature. 2005;433(7023):269–77.
6. Simoni M, Gromoll J, Nieschlag E. The follicle-stimulating hormone receptor: biochemistry, molecular biology, physiology, and pathophysiology. Endocr Rev. 1997;18(6):739–73.
7. Gromoll J, Dankbar B, Gudermann T. Characterization of the 5′ flanking region of the human follicle-stimulating hormone receptor gene. Mol Cell Endocrinol. 1994;102(1–2):93–102.
8. Simoni M, Nieschlag E, Gromoll J. Isoforms and single nucleotide polymorphisms of the FSH receptor gene: implications for human reproduction. Hum Reprod Update. 2002;8(5):413–21.
9. Nakayama T, Kuroi N, Sano M, Tabara Y, Katsuya T, Ogihara T, et al. Mutation of the follicle-stimulating hormone receptor gene 5′-untranslated region associated with female hypertension. Hypertension. 2006;48(3):512–8.
10. Wunsch A, Ahda Y, Banaz-Yasar F, Sonntag B, Nieschlag E, Simoni M, et al. Single-nucleotide polymorphisms in the promoter region influence the expression of the human follicle-stimulating hormone receptor. Fertil Steril. 2005;84(2):446–53.
11. Achrekar SK, Modi DN, Desai SK, Mangoli VS, Mangoli RV, Mahale SD. Poor ovarian response to gonadotrophin stimulation is associated with FSH receptor polymorphism. Reprod BioMed Online. 2009;18(4):509–15.
12. Desai SS, Achrekar SK, Pathak BR, Desai SK, Mangoli VS, Mangoli RV, et al. Follicle-stimulating hormone receptor polymorphism (G-29A) is associated with altered level of receptor expression in Granulosa cells. J Clin Endocrinol Metab. 2011;96(9):2805–12.
13. Ahda Y, Gromoll J, Wunsch A, Asatiani K, Zitzmann M, Nieschlag E, et al. Follicle-stimulating hormone receptor gene haplotype distribution in normozoospermic and azoospermic men. J Androl. 2005;26(4):494–9.
14. Pengo M, Ferlin A, Arredi B, Ganz F, Selice R, Garolla A, et al. FSH receptor gene polymorphisms in fertile and infertile Italian men. Reprod BioMed Online. 2006;13(6):795–800.
15. Balkan M, Gedik A, Akkoc H, Izci Ay O, Erdal ME, Isi H, et al. FSHR single nucleotide polymorphism frequencies in proven fathers and infertile men in Southeast Turkey. J Biomed Biotechnol. 2010;2010:640318.
16. Li Y, Gu A, Yang H, Ding X, Ji G, Lu C, et al. FSH receptor gene polymorphisms in fertile and infertile Han-Chinese males. Clinica chimica acta; international journal of clinical chemistry. 2011;412(11–12):1048–52.
17. Wu W, Cai H, Sun H, Lu J, Zhao D, Qin Y, et al. Follicle stimulating hormone receptor G-29A, 919A>G, 2039A>G polymorphism and the risk of male infertility: a meta-analysis. Gene. 2012;505(2):388–92.
18. Lend AK, Belousova A, Haller-Kikkatalo K, Punab M, Poolamets O, Peters M, 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.
19. Grigorova M, Punab M, Punab AM, Poolamets O, Vihljajev V, Zilaitiene B, et al. Reproductive physiology in young men is cumulatively affected by FSH-action modulating genetic variants: FSHR −29G/A and c.2039 A/G, FSHB -211G/T. PLoS One. 2014;9(4):e94244.
20. 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? Genetics in medicine: official journal of the American College of Medical Genetics. 2007;9(10):665–74.
21. Boccia S, Mc Kee M, Adany R, Boffetta P, Burton H, Cambon-Thomsen A, et al. Beyond public health genomics: proposals from an international working group. Eur J Pub Health. 2014;24(6):877–9.