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Polymorphisms of CYP17A1, CYP19, and androgen in Brazilian women with uterine leiomyomas

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Published/Copyright: June 1, 2008
Clinical Chemistry and Laboratory Medicine
From the journal Clinical Chemistry and Laboratory Medicine Volume 46 Issue 6

Abstract

Background: Uterine leiomyomas are common, benign, smooth muscle tumors representing a significant public health problem. The aim of this study was to investigate CYP17A1, CYP19, and androgen (AR) polymorphisms, their relative risks for uterine leiomyomas and possible associations with clinical parameters.

Methods: Uterine leiomyoma tissues and blood samples were obtained from 87 patients, as were peripheral blood samples from 68 control women. Clinical data were recorded in both groups. The CYP17A1 (rs743572) polymorphism was analyzed by PCR-RFLP, and the CYP19 [TTTA]n repeat and AR [CAG]n repeat were analyzed using PCR-based GeneScan analysis. AR loss of heterozygosity (LOH) and microsatellite instability were also evaluated, while samples exhibiting LOH were analyzed for X inactivation.

Results: Clinical parameters related to disease development did not differ between cases and controls. CYP17A1 *A2/*A2 genotype was prevalent in non-white women. CYP17A1, CYP19, and AR genotypes and alleles did not differ between groups. However, alleles presenting [TTTA]7 repeats in intron 4 of CYP19 were more frequent in the control group (p=0.0550). Shorter and longer [CAG]n repeat alleles of AR were exclusive to the leiomyoma group. The LOH assay showed allele losses at AR locus in four informative tumors and X chromosome inactivation analysis revealed that these tumors retained the active allele.

Conclusions: The overall lack of association between uterine leiomyomas with polymorphisms involved in steroidogenesis or steroid metabolism is consistent with the hypothesis that these polymorphisms do not substantially contribute to the development of these tumors.

Clin Chem Lab Med 2008;46:814–23.

Keywords: androgen (AR); CYP17A1; CYP19; polymorphism; uterine leiomyoma
Corresponding author: Silvia Regina Rogatto, PhD, NeoGene Laboratory, Departamento de Urologia, Faculdade de Medicina, UNESP, Botucatu, 18618-000, São Paulo, Brazil Phone: +55-14-3811-6436, Fax: +55-14-3811-6271,
Received: 2007-10-5
Accepted: 2008-2-26
Published Online: 2008-06-01
Published in Print: 2008-06-01

©2008 by Walter de Gruyter Berlin New York

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https://doi.org/10.1515/CCLM.2008.172
Keywords for this article
androgen (AR); CYP17A1; CYP19; polymorphism; uterine leiomyoma

Articles in the same Issue

  1. Reviews
  2. The STANISLAS Cohort: a 10-year follow-up of supposed healthy families. Gene-environment interactions, reference values and evaluation of biomarkers in prevention of cardiovascular diseases
  3. Cardiovascular biomarkers: increasing impact of laboratory medicine in cardiology practice
  4. Haemolysis: an overview of the leading cause of unsuitable specimens in clinical laboratories
  5. Cardiovascular Diseases
  6. APOA5 Ala315>Val, identified in patients with severe hypertriglyceridemia, is a common mutation with no major effects on plasma lipid levels
  7. Gender-modulated impact of apolipoprotein A5 gene (APOA5) −1131T>C and c.56C>G polymorphisms on lipids, dyslipidemia and metabolic syndrome in Turkish adults
  8. Oxidative stress markers, C-reactive protein and heat shock protein 70 levels in subjects with metabolic syndrome
  9. Development of sensitive and specific age- and gender-specific low-density lipoprotein cholesterol cutoffs for diagnosis of first-degree relatives with familial hypercholesterolaemia in cascade testing
  10. Distribution of plasma cardiac troponin I values in healthy subjects: pathophysiological considerations
  11. High-density lipoprotein cholesterol and paraoxonase 1 (PON1) genetics and serum PON1 activity in prepubertal children in Spain
  12. Genetics and Molecular Diagnostics
  13. Polymorphisms of CYP17A1, CYP19, and androgen in Brazilian women with uterine leiomyomas
  14. A novel MEN1 frameshift germline mutation in two Italian monozygotic twins
  15. The silent hemoglobin α chain variant Hb Riccarton [α51(CE9)Gly→Ser] may affect HbA1c determination on the HLC-723 G7 analyzer
  16. General Clinical Chemistry and Laboratory Medicine
  17. Urinary fructose-1,6-bisphosphatase activity as a marker of the damage to the renal proximal tubules in children with idiopathic nephrotic syndrome
  18. Antioxidant defense capacity in scleroderma patients
  19. Correction of ventricular cerebrospinal fluid (CSF) samples for blood content does not increase sensitivity and specificity for the detection of CSF infection
  20. Validation and Outcome Studies
  21. Preanalytical quality control program – an overview of results (2001–2005 summary)
  22. A laboratory-based risk score for medical intensive care patients
  23. Analytical performance evaluation of the Cobas 6000 analyzer – special emphasis on trueness verification
  24. Letters to the Editor
  25. Quality planning and analytical quality requirements derived from biology
  26. Importance of sample size in hospital point-of-care glucose measurements
  27. Reliability of M protein quantification: comparison of two peak integration methods on Capillarys 2
  28. What's in a name? Standardization of HbA1c
  29. Serum paraoxonase 1 activities and homocysteinemia in hemodialysis patients
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