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Aromatase gene (CYP...
Aromatase gene (CYP19A1) variants, female infertility and ovarian stimulation outcome : a preliminary report
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- Altmäe, Signe (author)
- Karolinska Institutet
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- Haller, Kadri (author)
- Dep of Obstetrics and Gynaecology, University of Tartu, Estonia
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- Peters, Maire (author)
- Dep of Obstetrics and Gynaecology, University of Tartu, Estonia
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- Saare, Merli (author)
- Dep of Obstetrics and Gynaecology, University of Tartu, Estonia
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- Hovatta, Outi (author)
- Karolinska Institutet
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- Stavreus-Evers, Anneli (author)
- Uppsala universitet,Institutionen för kvinnors och barns hälsa,Klinisk och experimentell reproduktionsbiologi/Olovsson
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- Velthut, Agne (author)
- Nova Vita Clinic, Centre for Infertility Treament and Medical Genetics, Estonia
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- Karro, Helle (author)
- Dep of Obstetrics and Gynaecology, University of Tartu, Estonia
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- Metspalu, Andres (author)
- Dept of Biotechnolgy, Institute of Molecular and Cell Biology, Estonian Genome Foundation, University of Tartu, Estonia
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- Salumets, Andres (author)
- Dept of Biotechnolgy, Institute of Molecular and Cell Biology, Estonian Genome Foundation, University of Tartu, Estonia
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(creator_code:org_t)
- 2009
- 2009
- English.
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In: Reproductive BioMedicine Online. - 1472-6483 .- 1472-6491. ; 18:5, s. 651-657
- Related links:
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https://urn.kb.se/re...
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http://kipublication...
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https://doi.org/10.1...
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Abstract
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- Progress has been made towards ascertaining the genetic predictors of ovarian stimulation in IVF. Aromatase cytochrome P450, encoded by the CYP19A1 gene, catalyses a key step in ovarian oestrogen biosynthesis. Hence, the aromatase gene is an attractive candidate for genetic studies. This study aimed to examine the genetic influences of CYP19A1 TCT trinucleotide insertion/deletion (Ins/Del) and (TTTA)(n) microsatellite intronic polymorphisms on ovarian stimulation outcome and aetiology of female infertility. IVF patients (n = 152) underwent ovarian stimulation according to recombinant FSH and gonadotrophin releasing hormone antagonist protocol. Del/Del homozygous patients with shorter TTTA repeats exhibited decreased ovarian FSH sensitivity in ovarian stimulation, which may reflect variations in aromatase gene expression during early antral follicle development. Accordingly, this study demonstrates correlations between Del allele and shorter (TTTA)(n) repeat sizes with smaller ovaries (r = -0.70, P = 0.047) and fewer antral follicles (r = 0.21, P = 0.018) on days 3-5 of spontaneous menstrual cycle, respectively. Furthermore, Del variation linked with low-repeat-number (TTTA)(n) alleles are involved in enhanced genetic susceptibility to unexplained infertility (adjusted OR = 4.33, P = 0.039) and endometriosis (r = -0.88, P = 0.026), which corroborates evidence on the overlapping patient profiles of ovarian dysfunction in both types of female infertility.
Keyword
- aromatase
- female infertility
- IVF
- ovarian stimulation
- MEDICINE
- MEDICIN
Publication and Content Type
- ref (subject category)
- art (subject category)
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- By the author/editor
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Altmäe, Signe
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Haller, Kadri
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Peters, Maire
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Saare, Merli
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Hovatta, Outi
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Stavreus-Evers, ...
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show more...
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Velthut, Agne
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Karro, Helle
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Metspalu, Andres
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Salumets, Andres
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- Articles in the publication
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Reproductive Bio ...
- By the university
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Uppsala University
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Karolinska Institutet