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Int J Mol Sci. 2019 Mar 7;20(5). pii: E1160. doi: 10.3390/ijms20051160.

VKORC1 and CYP2C9 Polymorphisms: A Case Report in a Dutch Family with Pulmonary Fibrosis.

Wijnen P1,2, Drent M3,4,5, Bekers O6,7, Verschakelen J8,9, Bast A10,11,12.

Author information

1
Department of Clinical Chemistry, Central Diagnostic Laboratory, Maastricht University Medical Centre, 6229 HX Maastricht, The Netherlands. petal.wijnen@mumc.nl.
2
ILD Care Foundation Research Team, 6711 NR Ede, The Netherlands. petal.wijnen@mumc.nl.
3
ILD Care Foundation Research Team, 6711 NR Ede, The Netherlands. m.drent@antoniusziekenhuis.nl.
4
Department of Pharmacology and Toxicology, Faculty of Health, Medicine and Life Science, Maastricht University, 6200 MD Maastricht, The Netherlands. m.drent@antoniusziekenhuis.nl.
5
ILD Center of Excellence, St. Antonius Hospital, 3435 CM Nieuwegein, The Netherlands. m.drent@antoniusziekenhuis.nl.
6
Department of Clinical Chemistry, Central Diagnostic Laboratory, Maastricht University Medical Centre, 6229 HX Maastricht, The Netherlands. o.bekers@mumc.nl.
7
ILD Care Foundation Research Team, 6711 NR Ede, The Netherlands. o.bekers@mumc.nl.
8
ILD Care Foundation Research Team, 6711 NR Ede, The Netherlands. johny.verschakelen@uz.kuleuven.ac.be.
9
Department of Radiology, University Hospital Gasthuisberg, B-3000 Leuven, Belgium. johny.verschakelen@uz.kuleuven.ac.be.
10
ILD Care Foundation Research Team, 6711 NR Ede, The Netherlands. a.bast@maastrichtuniversity.nl.
11
Department of Pharmacology and Toxicology, Faculty of Health, Medicine and Life Science, Maastricht University, 6200 MD Maastricht, The Netherlands. a.bast@maastrichtuniversity.nl.
12
Venlo Campus, Maastricht University, 5900 AA Venlo, The Netherlands. a.bast@maastrichtuniversity.nl.

Abstract

Here, we describe a Dutch family with idiopathic pulmonary fibrosis (IPF). We hypothesized that there might be an association between the presence of Vitamin K epoxide reductase complex 1 (VKORC1) and/or cytochrome P450 2C9 (CYP2C9) variant alleles and the early onset of IPF in the members of this family. VKORC1 (rs9923231 and rs9934438) and CYP2C9 (rs1799853 and rs1057910) were genotyped in this family, which includes a significant number of pulmonary fibrosis patients. In all family members, at least one of the variant alleles tested was present. The presence of the VKORC1 variant alleles in all of the IPF cases and CYP2C9 variants in all but one, which likely leads to a phenotype that is characterized by the early onset and progressive course of IPF. Our findings indicate a role of these allelic variants in (familial) IPF. Therefore, we suggest that the presence of these variants, in association with other pathogenic mutations, should be evaluated during genetic counselling. Our findings might have consequences for the lifestyle of patients with familial IPF in order to prevent the disease from becoming manifest.

KEYWORDS:

familial idiopathic pulmonary fibrosis; oxidative stress; polymorphism; vitamin K supplementation

PMID:
30866412
DOI:
10.3390/ijms20051160
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