Abstract
BackgroundI/D polymorphisms of ACE are associated with the plasma ACE concentration. The ACE is associated with the angiogenesis of ovarian endothelium in vitro as well as steroidogenesis and follicular growth in cattle. Since ACE induces a high blood supply and hypersteroidogenesis in the ovary, it may be associated with polycystic ovary syndrome (PCOS) which exhibits hyperplasia, hypervascularity of the ovarian theca interna and stroma, as well as disorderd steroidogenesis. Therefore, we hypothesized that the ACE plays some roles in the human ovary. To investigate whether the ACE I/D polymorphisms are associated with the steroidogenesis disorder in PCOS and contribute to the susceptibility of PCOS in Chinese women, we designed a case-controlled association study in 582 individuals.MethodsThe ACE I/D polymorphisms were assessed in 582 reproductive-age women. Genotyping and frequency of ACE I/D polymorphisms were obtained by PCR amplification that was performed on genomic DNA isolated from blood leucocytes. Results were analyzed in respect to clinical test results.ResultsThe frequencies of the D allele and the genotypic distributions (DD, ID and II) in the women with PCOS did not differ from those in controls (P = 0.458). However, there were significant differences in the concentrations of testosterone among three genotypes both in the PCOS patients and controls (P = 0.0045, P = 0.0052, respectively). Differences were also found between these groups with distinct genotypes: DD versus II and DI versus II in the PCOS patients as well as DD versus DI and DD versus II in the controls. There were significant differences in the ratio of LH/FSH among three genotypes in the patients (P = 0.01). However, there were no statistical differences in the BMI, AAM, E2 concentrations and other serum hormone concentrations among the three genotypes both in the PCOS patients and controls.ConclusionThe ACE I/D polymorphisms were not associated with the pathogenesis of PCOS. However, the polymorphisms were associated with the steroidogenesis in the ovary. The observation indicated that the ACE I/D polymorphisms were not the key etiological factor, which in stead may be associated with the aggravated clinical manifestations of PCOS.
Highlights
I/D polymorphisms of Angiotensin-converting Enzyme (ACE) are associated with the plasma ACE concentration
Rigat et al [8] demonstrated that the inter-individual variability of the plasma ACE concentration is associated with an insertion (I)/deletion (D) polymorphism involving a 287-bp DNA sequence situated in intron 16 of the ACE gene, the socalled ACE I/D polymorphism
We calculated the body mass index (BMI = body weight in kilograms divided by square of height in meters) to assess obesity
Summary
I/D polymorphisms of ACE are associated with the plasma ACE concentration. The ACE is associated with the angiogenesis of ovarian endothelium in vitro as well as steroidogenesis and follicular growth in cattle. In addition to the important role in regulating blood pressure, the ACE and its products are associated with the angiogenesis of ovarian endothelium in vitro [3] and the resumption of meiosis [4,5], steroidogenesis [6], and follicular growth [7] in cattle. Rigat et al [8] demonstrated that the inter-individual variability of the plasma ACE concentration is associated with an insertion (I)/deletion (D) polymorphism involving a 287-bp DNA sequence situated in intron 16 of the ACE gene, the socalled ACE I/D polymorphism. Researchers use the I/ D polymorphism as a valid marker for studying the associations between the ACE gene polymorphism(s) and pathophysiological conditions
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