Common genetic variants of the human steroid 21-hydroxylase gene (CYP21A2) are related to differences in circulating hormone levels

Márton Doleschall, Julianna Anna Szabó, Júlia Pázmándi, Ágnes Szilágyi, Klára Koncz, Henriette Farkas, Miklós Tóth, Péter Igaz, Edit Gláz, Zoltán Prohászka, Márta Korbonits, Károly Rácz, George Füst, Attila Patócs

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Purpose: Systematic evaluation of the potential relationship between the common genetic variants of CYP21A2 and hormone levels. Methods: The relationships of CYP21A2 intron 2 polymorphisms and haplotypes with diverse baseline and stimulated blood hormone levels were studied in 106 subjects with non-functioning adrenal incidentaloma (NFAI). The rationale for using NFAI subjects is dual: i) their baseline hormone profiles do not differ from those of healthy subjects and ii) hormone levels after stimulation tests are available. Results: The carriers (N = 27) of a well-defined CYP21A2 haplotype cluster (c5) had significantly elevated levels of cortisol (p = 0.0110), and 17-hydroxyprogesterone (p = 0.0001) after ACTH stimulation, and 11-deoxycortisol after metyrapone administration (p = 0.0017), but the hormone values were in normal ranges. In addition, the carriers (N = 33) of the C allele of the rs6462 polymorphism had a higher baseline aldosterone level (p = 0.0006). The prevalence of these genetic variants of CYP21A2 did not differ between NFAI and healthy subjects. Conclusions: The common CYP21A2 variants presumably exert the same effect on hormone levels in the healthy and disease-Affected populations. Therefore, they may contribute to complex diseases such as some cardiovascular diseases, and may influence the genotype-phenotype correlation in patients with congenital adrenal hyperplasia (CAH) including the individual need for hormone substitution.

Original languageEnglish
Article numbere107244
JournalPloS one
Issue number9
Publication statusPublished - Sep 2014


ASJC Scopus subject areas

  • Biochemistry, Genetics and Molecular Biology(all)
  • Agricultural and Biological Sciences(all)
  • General

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