| 1. |
- Altmäe, Signe, et al.
(författare)
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Aromatase gene (CYP19A1) variants, female infertility and ovarian stimulation outcome : a preliminary report
- 2009
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Ingår i: Reproductive BioMedicine Online. - 1472-6483 .- 1472-6491. ; 18:5, s. 651-657
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Tidskriftsartikel (refereegranskat)abstract
- 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.
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| 2. |
- Merisalu, Ave, et al.
(författare)
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The contribution of genetic variations of aryl hydrocarbon receptor pathway genes to male factor infertility
- 2007
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Ingår i: Fertility and Sterility. - : Elsevier BV. - 1556-5653 .- 0015-0282. ; 88:4, s. 854-859
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Tidskriftsartikel (refereegranskat)abstract
- Objective: To determine whether the polymorphisms in aryl hydrocarbon receptor (AHR), aryl hydrocarbon receptor repressor (AHRR), and aryl hydrocarbon receptor nuclear translocator (ARNT) genes are associated with male factor infertility. Design: An association study. Setting: University research laboratory and andrology clinic. Patient(s): The subjects were infertile Estonian men (n = 112) with azoospermia or oligozoospermia and controls (n = 212) with normal sperm parameters. Intervention(s): Blood samples were obtained for DNA extraction and genotyping. Main Outcome Measure(s): AHR (Arg554Lys), AHRR (Pro 185Ala), and ARNT (G/C allele) polymorphisms were genotyped using allele-specific polymerase chain reaction. Allele and genotype frequencies were compared between infertile men and controls and separately in the normozoospermia, oligozoospermia, and azoospermia groups. Result(s): The AHRR Ala185Ala genotype was implicated in susceptibility to male factor infertility. Ala/Ala genotype frequency increased in the following order: normozoospermia (18.0%), oligozoospermia (26.0%), azoospermia (42.1 %). Allele and genotype frequencies of AHR and ARNT polymorphisms were similar between cases and controls. Conclusion(s): We demonstrated that the AHRR Pro185Ala polymorphism contributed to a predisposition to male factor infertility in the Estonian population. A greater prevalence of the Ala/Ala genotype was found among infertile patients.
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