Mol. Hum. Reprod. Advance Access published online on January 3, 2006
Molecular Human Reproduction, doi:10.1093/molehr/gah219
| ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
1 Department of Obstetrics and Gynaecology, University of Auckland, Auckland, New Zealand
* To whom correspondence should be addressed. Inhibin is an important glycoprotein that is involved in folliculogenesis. INHA, the gene encoding the inhibin alpha subunit, was recently proposed as a candidate for premature ovarian failure (POF), a syndrome that leads to the cessation of ovarian function under the age of 40 years. 70 POF patients and 70 controls were screened for the previously identified INHA - 16C>T transition mutation. The T allele was found in 31/70 (44.3%) of controls, but only 18/70 (25.7%) of POF patients. This result indicates that the T allele is significantly underrepresented in the POF patient population (Fishers exact test, two-tail: P = 0.033). Sequence analysis of the INHA promoter in 50 POF patients and 50 controls identified a highly polymorphic imperfect TG repeat at approximately -300 bp, that consisted of four common haplotypes (A, B, C and D). The -16T allele is linked to the shortest repeat haplotype (haplotype C). Despite the association between haplotype C and POF, no significant difference was found between the promoter activity of a luciferase reporter construct containing haplotype C, and most of the other haplotypes tested. Interestingly, haplotype B failed to show any promoter activity. We conclude that the inheritance of specific INHA promoter hap-lotypes predispose to the development of premature ovarian failure.
Received June 21, 2005
Accepted July 26, 2005
Article
INHA promoter polymorphisms are associated with premature ovarian failure
Sarah E. Harris 1,
Ashwini L. Chand 1,
Ingrid M. Winship 2,
Ksenija Gersak 3,
Yoshihiro Nishi 4,
Toshihiko Yanase 4,
Hajime Nawata 4,
and
Andrew N. Shelling 1 *
2 Department of Molecular Medicine, University of Auckland, Auckland, New Zealand
3 Department of Obstetrics and Gynaecology, University Medical Centre, Ljubljana, Slovenia
4 Department of Medicine and Bioregulatory Science (Third Department of Internal Medicine), Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan
Andrew N. Shelling, E-mail: a.shelling{at}auckland.ac.nz
![]()
Abstract ![]()
CiteULike
Connotea
Del.icio.us What's this?
This article has been cited by other articles:
![]() |
A.L. Chand, C.A. Harrison, and A.N. Shelling Inhibin and premature ovarian failure Hum. Reprod. Update, September 14, 2009; (2009) dmp031v1. [Abstract] [Full Text] [PDF] |
||||
![]() |
E. Zintzaras Inhibin alpha gene and susceptibility to premature ovarian failure: a data synthesis Mol. Hum. Reprod., September 1, 2009; 15(9): 551 - 555. [Abstract] [Full Text] [PDF] |
||||
![]() |
B. Wang, L. Li, F. Ni, J. Song, J. Wang, Y. Mu, X. Ma, and Y. Cao Mutational analysis of SAL-Like 4 (SALL4) in Han Chinese women with premature ovarian failure Mol. Hum. Reprod., September 1, 2009; 15(9): 557 - 562. [Abstract] [Full Text] [PDF] |
||||
![]() |
T. Corre, J. Schuettler, S. Bione, A. Marozzi, L. Persani, R. Rossetti, F. Torricelli, I. Giotti, P. Vogt, D. Toniolo, et al. A large-scale association study to assess the impact of known variants of the human INHA gene on premature ovarian failure Hum. Reprod., August 1, 2009; 24(8): 2023 - 2028. [Abstract] [Full Text] [PDF] |
||||
![]() |
H. Kang, S. K. Lee, M.-H. Kim, J. Song, S. J. Bae, N. K. Kim, S.-H. Lee, and K. Kwack Parathyroid hormone-responsive B1 gene is associated with premature ovarian failure Hum. Reprod., June 1, 2008; 23(6): 1457 - 1465. [Abstract] [Full Text] [PDF] |
||||
![]() |
A. Tsigkou, S. Marzotti, L. Borges, A. Brozzetti, F. Reis, P. Candeloro, M. Luisa Bacosi, V. Bini, F. Petraglia, and A. Falorni High Serum Inhibin Concentration Discriminates Autoimmune Oophoritis from Other Forms of Primary Ovarian Insufficiency J. Clin. Endocrinol. Metab., April 1, 2008; 93(4): 1263 - 1269. [Abstract] [Full Text] [PDF] |
||||
![]() |
B. Mandon-Pepin, P. Touraine, F. Kuttenn, C. Derbois, A. Rouxel, F. Matsuda, A. Nicolas, C. Cotinot, and M. Fellous Genetic investigation of four meiotic genes in women with premature ovarian failure Eur. J. Endocrinol., January 1, 2008; 158(1): 107 - 115. [Abstract] [Full Text] [PDF] |
||||
![]() |
C. Z. Altuntas, J. M. Johnson, and V. K. Tuohy Autoimmune Targeted Disruption of the Pituitary-Ovarian Axis Causes Premature Ovarian Failure J. Immunol., August 1, 2006; 177(3): 1988 - 1996. [Abstract] [Full Text] [PDF] |
||||





