---
_id: '12985'
abstract:
- lang: eng
  text: "Objectives\r\nPseudoxanthoma elasticum (PXE) is a rare hereditary disorder
    characterized by progressive calcification and fragmentation of elastic fibers.
    Because of the great clinical variability between PXE patients the involvement
    of modifier genes was recently suggested. Therefore, we investigated the association
    of single nucleotide variants (SNVs) in selected candidate genes known to regulate
    cellular pyrophosphate metabolism.\r\nDesign and methods\r\nWe used RLFP analyses
    to evaluate the distribution of SNVs in alkaline phosphatase (ALP), ectonucleotide
    pyrophosphatase 1 (ENPP1) and ankylosis (ANKH) in DNA samples from 190 German
    PXE patients and 190 age- and sex-matched healthy controls. Statistical analyses
    were performed using Fisher exact test and Bonferroni correction.\r\nResults\r\nThe
    screening revealed three different SNVs in three genes, which were associated
    with PXE. The SNV c.1190-65C > A (rs1780329, minor allele frequency (MAF) patients:
    0.17; controls: 0.11; P = 0.04) in the ALP gene was significantly more frequent
    in PXE patients. Furthermore, PXE was highly associated with ANKH p.A98A genotype
    TT (P = 0.0012), although the MAF was not different between patients and controls.
    After correction for multiple testing according to the Bonferroni method, one
    SNV in the ENPP1 gene (c.313 + 9G > T, rs7773477) remained significantly associated
    with PXE with significantly higher MAF values in the patient cohort (MAF: 0.04
    vs. 0.00; P = 0.0024) and a high association with PXE susceptibility (OR 27.96).\r\nConclusion\r\nPolymorphisms
    in ALP, ENPP1 and ANKH are important genetic risk factors contributing to PXE."
author:
- first_name: Mareike
  full_name: Dabisch-Ruthe, Mareike
  id: '66516'
  last_name: Dabisch-Ruthe
  orcid: https://orcid.org/0009-0008-7644-0826
- first_name: Alexander
  full_name: Brock, Alexander
  last_name: Brock
- first_name: Patricia
  full_name: Kuzaj, Patricia
  last_name: Kuzaj
- first_name: Peter
  full_name: Charbel Issa, Peter
  last_name: Charbel Issa
- first_name: Christiane
  full_name: Szliska, Christiane
  last_name: Szliska
- first_name: Cornelius
  full_name: Knabbe, Cornelius
  last_name: Knabbe
- first_name: Doris
  full_name: Hendig, Doris
  last_name: Hendig
citation:
  ama: Dabisch-Ruthe M, Brock A, Kuzaj P, et al. Variants in genes encoding pyrophosphate
    metabolizing enzymes are associated with Pseudoxanthoma elasticum. <i>Clinical
    Biochemistry</i>. 2014;47(15):60-67. doi:<a href="https://doi.org/10.1016/j.clinbiochem.2014.07.003">10.1016/j.clinbiochem.2014.07.003</a>
  apa: Dabisch-Ruthe, M., Brock, A., Kuzaj, P., Charbel Issa, P., Szliska, C., Knabbe,
    C., &#38; Hendig, D. (2014). Variants in genes encoding pyrophosphate metabolizing
    enzymes are associated with Pseudoxanthoma elasticum. <i>Clinical Biochemistry</i>,
    <i>47</i>(15), 60–67. <a href="https://doi.org/10.1016/j.clinbiochem.2014.07.003">https://doi.org/10.1016/j.clinbiochem.2014.07.003</a>
  bjps: <b>Dabisch-Ruthe M <i>et al.</i></b> (2014) Variants in Genes Encoding Pyrophosphate
    Metabolizing Enzymes Are Associated with Pseudoxanthoma Elasticum. <i>Clinical
    Biochemistry</i> <b>47</b>, 60–67.
  chicago: 'Dabisch-Ruthe, Mareike, Alexander Brock, Patricia Kuzaj, Peter Charbel
    Issa, Christiane Szliska, Cornelius Knabbe, and Doris Hendig. “Variants in Genes
    Encoding Pyrophosphate Metabolizing Enzymes Are Associated with Pseudoxanthoma
    Elasticum.” <i>Clinical Biochemistry</i> 47, no. 15 (2014): 60–67. <a href="https://doi.org/10.1016/j.clinbiochem.2014.07.003">https://doi.org/10.1016/j.clinbiochem.2014.07.003</a>.'
  chicago-de: 'Dabisch-Ruthe, Mareike, Alexander Brock, Patricia Kuzaj, Peter Charbel
    Issa, Christiane Szliska, Cornelius Knabbe und Doris Hendig. 2014. Variants in
    genes encoding pyrophosphate metabolizing enzymes are associated with Pseudoxanthoma
    elasticum. <i>Clinical Biochemistry</i> 47, Nr. 15: 60–67. doi:<a href="https://doi.org/10.1016/j.clinbiochem.2014.07.003">10.1016/j.clinbiochem.2014.07.003</a>,
    .'
  din1505-2-1: '<span style="font-variant:small-caps;">Dabisch-Ruthe, Mareike</span>
    ; <span style="font-variant:small-caps;">Brock, Alexander</span> ; <span style="font-variant:small-caps;">Kuzaj,
    Patricia</span> ; <span style="font-variant:small-caps;">Charbel Issa, Peter</span>
    ; <span style="font-variant:small-caps;">Szliska, Christiane</span> ; <span style="font-variant:small-caps;">Knabbe,
    Cornelius</span> ; <span style="font-variant:small-caps;">Hendig, Doris</span>:
    Variants in genes encoding pyrophosphate metabolizing enzymes are associated with
    Pseudoxanthoma elasticum. In: <i>Clinical Biochemistry</i> Bd. 47. Amsterdam,
    Elsevier (2014), Nr. 15, S. 60–67'
  havard: M. Dabisch-Ruthe, A. Brock, P. Kuzaj, P. Charbel Issa, C. Szliska, C. Knabbe,
    D. Hendig, Variants in genes encoding pyrophosphate metabolizing enzymes are associated
    with Pseudoxanthoma elasticum, Clinical Biochemistry. 47 (2014) 60–67.
  ieee: 'M. Dabisch-Ruthe <i>et al.</i>, “Variants in genes encoding pyrophosphate
    metabolizing enzymes are associated with Pseudoxanthoma elasticum,” <i>Clinical
    Biochemistry</i>, vol. 47, no. 15, pp. 60–67, 2014, doi: <a href="https://doi.org/10.1016/j.clinbiochem.2014.07.003">10.1016/j.clinbiochem.2014.07.003</a>.'
  mla: Dabisch-Ruthe, Mareike, et al. “Variants in Genes Encoding Pyrophosphate Metabolizing
    Enzymes Are Associated with Pseudoxanthoma Elasticum.” <i>Clinical Biochemistry</i>,
    vol. 47, no. 15, 2014, pp. 60–67, <a href="https://doi.org/10.1016/j.clinbiochem.2014.07.003">https://doi.org/10.1016/j.clinbiochem.2014.07.003</a>.
  short: M. Dabisch-Ruthe, A. Brock, P. Kuzaj, P. Charbel Issa, C. Szliska, C. Knabbe,
    D. Hendig, Clinical Biochemistry 47 (2014) 60–67.
  ufg: '<b>Dabisch-Ruthe, Mareike u. a.</b>: Variants in genes encoding pyrophosphate
    metabolizing enzymes are associated with Pseudoxanthoma elasticum, in: <i>Clinical
    Biochemistry</i> 47 (2014), H. 15,  S. 60–67.'
  van: Dabisch-Ruthe M, Brock A, Kuzaj P, Charbel Issa P, Szliska C, Knabbe C, et
    al. Variants in genes encoding pyrophosphate metabolizing enzymes are associated
    with Pseudoxanthoma elasticum. Clinical Biochemistry. 2014;47(15):60–7.
date_created: 2025-06-17T06:53:30Z
date_updated: 2025-06-17T13:48:52Z
department:
- _id: DEP4010
doi: 10.1016/j.clinbiochem.2014.07.003
intvolume: '        47'
issue: '15'
keyword:
- Pseudoxanthoma elasticum
- Calcification
- Tissue nonspecific alkaline phosphatase
- Ectonucleotide pyrophosphatase 1
- Ankylosis
language:
- iso: eng
page: 60-67
place: Amsterdam
publication: Clinical Biochemistry
publication_identifier:
  eissn:
  - 1873-2933
  issn:
  - 0009-9120
publication_status: published
publisher: Elsevier
status: public
title: Variants in genes encoding pyrophosphate metabolizing enzymes are associated
  with Pseudoxanthoma elasticum
type: scientific_journal_article
user_id: '83781'
volume: 47
year: '2014'
...