Epistasis between FSHR and CYP19A1 polymorphisms is associated with premature ovarian failure

Fertility and Sterility

Volumn 95, Issue 8, 2011, Pages 2585-2588

  Kim, Sunshin ^a   Pyun, Jung A ^a   Cha, Dong Hyun ^a   Ko, Jeong Jae ^a   Kwack, Kyubum ^a  

^a CHA University   (South Korea)

Author keywords

CYP19A1; epistasis; FSHR; polymorphism; premature ovarian failure

Indexed keywords

AROMATASE; FOLLITROPIN RECEPTOR;

ADULT; ARTICLE; CONTROLLED STUDY; FEMALE; GENETIC ASSOCIATION; GENOTYPE; HUMAN; MAJOR CLINICAL STUDY; MISSENSE MUTATION; OVARY FOLLICLE DEVELOPMENT; PREMATURE OVARIAN FAILURE; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM;

3' UNTRANSLATED REGIONS; AROMATASE; CASE-CONTROL STUDIES; CHI-SQUARE DISTRIBUTION; EPISTASIS, GENETIC; FEMALE; GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; HAPLOTYPES; HUMANS; MUTATION, MISSENSE; ODDS RATIO; OVARY; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE; PRIMARY OVARIAN INSUFFICIENCY; RECEPTORS, FSH; REPUBLIC OF KOREA; RISK ASSESSMENT; RISK FACTORS;

EID: 79959690735     PISSN: 00150282     EISSN: 15565653     Source Type: Journal    
DOI: 10.1016/j.fertnstert.2010.12.042     Document Type: Article

References (21)

1. G.S. Conway Premature ovarian failure Br Med Bull 56 2000 643 649 (Pubitemid 32041658)
2. D. Goswami, and G.S. Conway Premature ovarian failure Hum Reprod Update 11 2005 391 410 (Pubitemid 40895467)
3. S.N. Kalantaridou, S.R. Davis, and L.M. Nelson Premature ovarian failure Endocrinol Metab Clin North Am 27 1998 989 1006 (Pubitemid 28564068)
4. Q.R. Fan, and W.A. Hendrickson Structure of human follicle-stimulating hormone in complex with its receptor Nature 433 2005 269 277
5. J.A. Dias, B.D. Cohen, B. Lindau-Shepard, C.A. Nechamen, A.J. Peterson, and A. Schmidt Molecular, structural, and cellular biology of follitropin and follitropin receptor Vitam Horm 64 2002 249 322 (Pubitemid 135763167)
6. M. Simoni, J. Gromoll, and E. Nieschlag The follicle-stimulating hormone receptor: biochemistry, molecular biology, physiology, and pathophysiology Endocr Rev 18 1997 739 773 (Pubitemid 28009566)
7. A.P.N. Themmen, and I.T. Huhtaniemi Mutations of gonadotropins and gonadotropin receptors: elucidating the physiology and pathophysiology of pituitary-gonadal function Endocr Rev 21 2000 551 583
8. F. De Castro, F.J. Moron, L. Montoro, J.J. Galan, L.M. Real, and A. Ruiz Re: Polymorphisms associated with circulating sex hormone levels in postmenopausal women J Natl Cancer Inst 97 2005 152 153 author reply 3-4
9. A.M. Dunning, M. Dowsett, C.S. Healey, L. Tee, R.N. Luben, and E. Folkerd Polymorphisms associated with circulating sex hormone levels in postmenopausal women J Natl Cancer Inst 96 2004 936 945 (Pubitemid 38868140)
10. C.A. Haiman, L. Dossus, V.W. Setiawan, D.O. Stram, A.M. Dunning, and G. Thomas Genetic variation at the CYP19A1 locus predicts circulating estrogen levels but not breast cancer risk in postmenopausal women Cancer Res 67 2007 1893 1897 (Pubitemid 46424203)
11. H.J. Cordell, and D.G. Clayton Genetic association studies Lancet 366 2005 1121 1131 (Pubitemid 41338767)
12. O. Carlborg, and C.S. Haley Epistasis: too often neglected in complex trait studies? Nat Rev Genet 5 2004 618 625 (Pubitemid 39005756)
13. H.J. Cordell Detecting gene-gene interactions that underlie human diseases Nat Rev Genet 10 2009 392 404
14. K. Jagarlamudi, P. Reddy, D. Adhikari, and K. Liu Genetically modified mouse models for premature ovarian failure (POF) Mol Cell Endocrinol 315 2010 1 10
15. S. Kim, J.A. Pyun, H. Kang, J. Kim, D.H. Cha, and K. Kwack Epistasis between CYP19A1 and ESR1 polymorphisms is associated with premature ovarian failure Fertil Steril 95 2011 353 356
16. B. Mazumder, V. Seshadri, and P.L. Fox Translational control by the 3′-UTR: the ends specify the means Trends Biochem Sci 28 2003 91 98 (Pubitemid 36165138)
17. C. Stocco Aromatase expression in the ovary: hormonal and molecular regulation Steroids 73 2008 473 487
18. S.H. Chang, C.S. Kim, K.S. Lee, H. Kim, S.V. Yim, and Y.J. Lim Premenopausal factors influencing premature ovarian failure and early menopause Maturitas 58 2007 19 30 (Pubitemid 47268703)
19. J.H. Moore The ubiquitous nature of epistasis in determining susceptibility to common human diseases Hum Hered 56 2003 73 82 (Pubitemid 37465073)
20. O. Valkenburg, A.G. Uitterlinden, D. Piersma, A. Hofman, A.P. Themmen, and F.H. de Jong Genetic polymorphisms of GnRH and gonadotrophic hormone receptors affect the phenotype of polycystic ovary syndrome Hum Reprod 24 2009 2014 2022
21. R.R. Greb, K. Grieshaber, J. Gromoll, B. Sonntag, E. Nieschlag, and L. Kiesel 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 90 2005 4866 4872 (Pubitemid 41159384)