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POR polymorphisms are associated with 21 hydroxylase deficiency.

F Pecori Giraldi1,2, S Einaudi3, A Sesta4

  • 1Department Clinical Sciences and Community Health, University of Milan, Milan, Italy. francesca.pecorigiraldi@unimi.it.

Journal of Endocrinological Investigation
|March 5, 2021
PubMed
Summary
This summary is machine-generated.

Polymorphisms in the P450 oxidoreductase (POR) gene influence congenital 21 hydroxylase deficiency presentation. Specific POR gene variations are linked to classic versus non-classic forms and disease severity.

Keywords:
CYP21A2Congenital adrenal hyperplasiaGenotype–phenotype correlationPORSNP

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Area of Science:

  • Endocrinology
  • Genetics
  • Pediatric Endocrinology

Background:

  • Congenital 21 hydroxylase deficiency (21-OHD) exhibits variable genotype-phenotype correlations.
  • Modifier genes are hypothesized to influence 21-OHD clinical and hormonal variability.
  • The P450 oxidoreductase (POR) gene is a potential candidate for modulating 21-OHD phenotypes.

Purpose of the Study:

  • To investigate the association between POR gene polymorphisms and clinical features in patients with 21-OHD.
  • To determine if POR gene variations contribute to the spectrum of 21-OHD, from classic to non-classic forms.
  • To evaluate the impact of POR polymorphisms on the severity of classic 21-OHD.

Main Methods:

  • Sequencing of the POR gene in 96 patients with 21-OHD (49 classic, 47 non-classic) and 43 controls.
  • Analysis of POR gene polymorphisms, including rs2228104 and the rs2286822/rs2286823 haplotype.
  • Statistical evaluation of allelic risk and confidence intervals for observed associations.

Main Results:

  • The prevalence of POR polymorphisms was similar between 21-OHD patients and controls.
  • The rs2228104 polymorphism was significantly associated with non-classic 21-OHD (allelic risk 7.09).
  • The rs2286822/rs2286823 haplotype correlated with more severe classic 21-OHD phenotypes, including salt-wasting form, higher Prader stage, elevated ACTH, and earlier diagnosis.

Conclusions:

  • POR gene polymorphisms play a role in the clinical presentation of 21-OHD.
  • These polymorphisms influence predisposition to classic versus non-classic 21-OHD.
  • POR gene variations are associated with the severity of classic adrenal hyperplasia in 21-OHD.