A large-scale association study to assess the impact of known variants of the human INHA gene on premature ovarian failure

Human Reproduction

Volumn 24, Issue 8, 2009, Pages 2023-2028

  Corre, Tanguy ^a   Schuettler, Julia ^b   Bione, Silvia ^a,c   Marozzi, Anna ^d   Persani, Luca ^d,e   Rossetti, Raffaella ^d,e   Torricelli, Francesca ^f   Giotti, Irene ^f   Vogt, Peter ^b   Toniolo, Daniela ^a,c  

^a SAN RAFFAELE HOSPITAL   (Italy)

^b UNIVERSITY OF HEIDELBERG   (Germany)

^c CNR   (Italy)

^d UNIVERSITY OF MILAN   (Italy)

^e ISTITUTO AUXOLOGICO ITALIANO   (Italy)

^f CAREGGI UNIVERSITY HOSPITAL   (Italy)

Author keywords

Genetic risk factor; Infertility; Inhibin variants; Premature ovarian failure

Indexed keywords

INHIBIN; PROTEIN INHA; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ARTICLE; CONTROLLED STUDY; FEMALE; GENE FREQUENCY; GENETIC VARIABILITY; GENOTYPE; GERMANY; HUMAN; ITALY; MAJOR CLINICAL STUDY; MEDICAL ASSESSMENT; PREMATURE OVARIAN FAILURE; SINGLE NUCLEOTIDE POLYMORPHISM;

EID: 67651108907     PISSN: 02681161     EISSN: 14602350     Source Type: Journal    
DOI: 10.1093/humrep/dep090     Document Type: Article

References (28)

1. Aittomaki K, Lucena JL, Pakarinen P, Sistonen P, Tapanainen J, Gromoll J, Kaskikari R, Sankila EM, Lehvaslaiho H, Engel AR et al. Mutation in the follicle-stimulating hormone receptor gene causes hereditary hypergonadotropic ovarian failure. Cell 1995;82:959-968.
2. Bodega B, Bione S, Dalpra L, Toniolo D, Ornaghi F, Vegetti W, Ginelli E, Marozzi A. Influence of intermediate and uninterrupted FMR1 CGG expansions in premature ovarian failure manifestation. Hum Reprod2006;21:952- 957.
3. Chand AL, Ooi GT, Harrison CA, Shelling AN, Robertson DM. Functional analysis of the human inhibin alpha subunit variant A257T and its potential role in premature ovarian failure. Hum Reprod 2007; 22:3241-3248.
4. Christin-Maitre S. The role of hormone replacement therapy in the management of premature ovarian failure. Nat Clin Pract Endocrinol Metab 2008;4:60-61.
5. de Kretser DM, Hedger MP, Loveland KL, Phillips DJ. Inhibins, activins and follistatin in reproduction. Hum Reprod Update 2002;8:529-541.
6. Di Pasquale E, Beck-Peccoz P, Persani L. Hypergonadotropic ovarian failure associated with an inherited mutation of human bone morphogenetic protein-15 (BMP15) gene. Am J Hum Genet 2004; 75:106-111.
7. Di Pasquale E, Rossetti R, Marozzi A, Bodega B, Borgato S, Cavallo L, Einaudi S, Radetti G, Russo G, Sacco M et al. Identification of new variants of human BMP15 gene in a large cohort of women with premature ovarian failure. J Clin Endocrinol Metab 2006;91:1976-1979.
8. Dixit H, Rao KL, Padmalatha V, Kanakavalli M, Deenadayal M, Gupta N, Chakravarty BN, Singh L. Expansion of the germline analysis for the INHA gene in Indian women with ovarian failure. Hum Reprod 2006a; 21:1643-1644.
9. Dixit H, Rao LK, Padmalatha VV, Kanakavalli M, Deenadayal M, Gupta N, Chakrabarty B, Singh L. Missense mutations in the BMP15 gene are associated with ovarian failure. Hum Genet 2006b;119:408-415.
10. Doherty E, Pakarinen P, Tiitinen A, Kiilavuori A, Huhtaniemi I, Forrest S, Aittomaki K. A novel mutation in the FSH receptor inhibiting signal transduction and causing primary ovarian failure. J Clin Endocrinol Metab 2002;87:1151-1155.
11. Fassnacht W, Mempel A, Strowitzki T, Vogt PH. Premature ovarian failure (POF) syndrome: towards the molecular clinical analysis of its genetic complexity. Curr Med Chem 2006;13:1397-1410.
12. Harris SE, Chand AL, Winship IM, Gersak K, Aittomaki K, Shelling AN. Identification of novel mutations in FOXL2 associated with premature ovarian failure. Mol Hum Reprod 2002;8:729-733.
13. Harris SE, Chand AL,Winship IM, Gersak K, Nishi Y, Yanase T, Nawata H, Shelling AN. INHA promoter polymorphisms are associated with premature ovarian failure. Mol Hum Reprod 2005;11:779-784.
14. Jeong HJ, Cho SW, Kim HA, Lee SH, Cho JH, Choi DH, Kwon H, Cha WT, Han JE, Cha KY. G769A variation of inhibin alpha-gene in Korean women with premature ovarian failure. Yonsei Med J 2004; 45:479-482.
15. Laissue P, Christin-Maitre S, Touraine P, Kuttenn F, Ritvos O, Aittomaki K, Bourcigaux N, Jacquesson L, Bouchard P, Frydman R et al. Mutations and sequence variants in GDF9 and BMP15 in patients with premature ovarian failure. Eur J Endocrinol 2006;154:739-744.
16. Luborsky JL, Meyer P, Sowers MF, Gold EB, Santoro N. Premature menopause in a multi-ethnic population study of the menopause transition. Hum Reprod 2003;18:199-206.
17. Mansouri MR, Schuster J, Badhai J, Stattin EL, Losel R, Wehling M, Carlsson B, Hovatta O, Karlstrom PO, Golovleva I et al. Alterations in the expression, structure and function of progesterone receptor membrane component-1 (PGRMC1) in premature ovarian failure. Hum Mol Genet 2008;17:3776-3783.
18. Marozzi A, Porta C, Vegetti W, Crosignani PG, Tibiletti MG, Dalpra L, Ginelli E. Mutation analysis of the inhibin alpha gene in a cohort of Italian women affected by ovarian failure. Hum Reprod 2002; 17:1741-1745.
19. McCarthy MI, Abecasis GR, Cardon LR, Goldstein DB, Litlle J, Ioannidis JP, Hirschhorn JN. Genome-wide association studies for complex traits: consensus, uncertainty and challenges. Nat Rev Genet 2008; 9:356-369.
20. Parazzini F. Menopausal status, hormone replacement therapy use and risk of self-reported physician-diagnosed osteoarthritis in women attending menopause clinics in Italy. Maturitas 2003;46:207-212.
21. Purcell S, Neale B, Todd-Brown K, Thomas L, Ferreira MA, Bender D, Maller J, Sklar P, de Bakker PI, Daly MJ et al. PLINK: a tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet 2007;81:559-575.
22. Qin Y, Choi Y, Zhao H, Simpson JL, Chen ZJ, Rajkovic A. NOBOX homeobox mutation causes premature ovarian failure. Am J Hum Genet 2007;81:576-581.
23. Shelling AN, Burton KA, Chand AL, van Ee CC, France JT, Farquhar CM, Milsom SR, Love DR, Gersak K, Aittomaki K et al. Inhibin: a candidate gene for premature ovarian failure. Hum Reprod 2000; 15:2644-2649.
24. Sherman SL. Premature ovarian failure among fragile X premutation carriers: parent-of-origin effect? Am J Hum Genet 2000;67:11-13.
25. Sundblad V, Chiauzzi VA, Andreone L, Campo S, Charreau EH, Dain L. Controversial role of inhibin alpha-subunit gene in the aetiology of premature ovarian failure. Hum Reprod 2006;21:1154-1160.
26. Woad KJ, Pearson SM, Harris SE, Gersak K, Shelling AN. Investigating the association between inhibin alpha gene promoter polymorphisms and premature ovarian failure. Fertil Steril 2009;91:62-66.
27. Zhao XX, Suzumori N, Yamaguchi M, Suzumori K. Mutational analysis of the homeobox region of the human NOBOX gene in Japanese women who exhibit premature ovarian failure. Fertil Steril 2005; 83:1843-1844.
28. Zhao H, Chen ZJ, Qin Y, Shi Y, Wang S, Choi Y, Simpson JL, Rajkovic A. Transcription factor FIGLA is mutated in patients with premature ovarian failure. Am J Hum Genet 2008;82:1342-1348.