ABCB6 Polymorphisms are not Overly Represented in Patients with Porphyria - Université Paris Cité Access content directly
Journal Articles Blood Advances Year : 2021

ABCB6 Polymorphisms are not Overly Represented in Patients with Porphyria

Colin P Farrell
Robert Desnick
Charles J Parker
  • Function : Author
  • PersonId : 1120658
Jerome Lamoril
Laurent Gouya
  • Function : Author
  • PersonId : 1120659
Zoubida Karim
Dimitri Tchernitchko
  • Function : Author
  • PersonId : 1120660
Brenden Chan
  • Function : Author
  • PersonId : 1120661
Herve Puy
  • Function : Author
  • PersonId : 1044500
John D Phillips
  • Function : Author
  • PersonId : 1120662

Abstract

The Mendelian inheritance pattern of acute intermittent porphyria, hereditary coproporphyria, and variegate porphyria is autosomal dominant, but the clinical phenotype is heterogeneous. Within the general population, penetrance is low, but among first-degree relatives of a symptomatic proband, penetrance is higher. These observations suggest that genetic factors, in addition to mutation of the specific enzyme of the biosynthetic pathway of heme, contribute to the clinical phenotype. Recent studies by others suggested that the genotype of the transporter protein ABCB6 contribute to the porphyria phenotype. Identifying the molecule(s) that are transported by ABCB6 has been problematic and has led to uncertainty with respect to how or if variants/mutants contribute to phenotypic heterogeneity. Knockout mouse models of Abcb6 have not provided a direction for investigation as homozygous knockout animals do not have a discrete phenotype. To address the proposed link between ABC6 genotype and porphyria phenotype, a large cohort of patients with acute hepatic porphyria and erythropoietic protoporphyria was analyzed. Our studies showed that ABCB6 genotype did not correlate with disease severity. Therefore, genotyping of ABCB6 in patients with acute hepatic porphyria and erythropoietic protoporphyria is not warranted.
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Dates and versions

hal-03483658 , version 1 (16-12-2021)

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Attribution - NonCommercial

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Colin P Farrell, Gaël Nicolas, Robert Desnick, Charles J Parker, Jerome Lamoril, et al.. ABCB6 Polymorphisms are not Overly Represented in Patients with Porphyria. Blood Advances, 2021, ⟨10.1182/bloodadvances.2021005484⟩. ⟨hal-03483658⟩
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