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Bortezomib induced peripheral neuropathy and single nucleotide polymorphisms in PKNOX1

We analyzed single nucleotide polymorphisms (SNPs) in PKNOX1 (rs2839629) and in the intergenic region between PKNOX1 and CBS (rs915854) by Sanger sequencing in 88 patients with multiple myeloma treated with bortezomib. All patients (n = 13) harboring a homozygous mutation in PKNOX1 (rs2839629) also...

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Autores principales: Zhou, Xiang, Han, Seungbin, Cebulla, Nadine, Haertle, Larissa, Steinhardt, Maximilian J., Schirmer, Daniel, Runau, Eva, Flamm, Leon, Terhorst, Calvin, Jähnel, Laura, Vogt, Cornelia, Nerreter, Silvia, Teufel, Eva, Stanojkovska, Emilia, Mersi, Julia, Munawar, Umair, Schindehütte, Magnus, Blum, Robert, Reinhold, Ann-Kristin, Scherf-Clavel, Oliver, Rittner, Heike L., Pham, Mirko, Rasche, Leo, Einsele, Hermann, Sommer, Claudia, Kortüm, K. Martin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10189922/
https://www.ncbi.nlm.nih.gov/pubmed/37194045
http://dx.doi.org/10.1186/s40364-023-00490-9
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author Zhou, Xiang
Han, Seungbin
Cebulla, Nadine
Haertle, Larissa
Steinhardt, Maximilian J.
Schirmer, Daniel
Runau, Eva
Flamm, Leon
Terhorst, Calvin
Jähnel, Laura
Vogt, Cornelia
Nerreter, Silvia
Teufel, Eva
Stanojkovska, Emilia
Mersi, Julia
Munawar, Umair
Schindehütte, Magnus
Blum, Robert
Reinhold, Ann-Kristin
Scherf-Clavel, Oliver
Rittner, Heike L.
Pham, Mirko
Rasche, Leo
Einsele, Hermann
Sommer, Claudia
Kortüm, K. Martin
author_facet Zhou, Xiang
Han, Seungbin
Cebulla, Nadine
Haertle, Larissa
Steinhardt, Maximilian J.
Schirmer, Daniel
Runau, Eva
Flamm, Leon
Terhorst, Calvin
Jähnel, Laura
Vogt, Cornelia
Nerreter, Silvia
Teufel, Eva
Stanojkovska, Emilia
Mersi, Julia
Munawar, Umair
Schindehütte, Magnus
Blum, Robert
Reinhold, Ann-Kristin
Scherf-Clavel, Oliver
Rittner, Heike L.
Pham, Mirko
Rasche, Leo
Einsele, Hermann
Sommer, Claudia
Kortüm, K. Martin
author_sort Zhou, Xiang
collection PubMed
description We analyzed single nucleotide polymorphisms (SNPs) in PKNOX1 (rs2839629) and in the intergenic region between PKNOX1 and CBS (rs915854) by Sanger sequencing in 88 patients with multiple myeloma treated with bortezomib. All patients (n = 13) harboring a homozygous mutation in PKNOX1 (rs2839629) also had a homozygous mutated rs915854 genotype. Homozygous mutated genotypes of rs2839629 and rs915854 were significantly enriched in patients with painful peripheral neuropathy (PNP) (P < 0.0001), and homozygous mutated rs2839629 genotype was significantly enriched in patients with pain compared to patients with no pain (P = 0.04). In summary, both SNPs rs2839629 and/or rs915854 may be potential biomarkers predicting an increased risk to develop painful PNP under bortezomib. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1186/s40364-023-00490-9.
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spelling pubmed-101899222023-05-18 Bortezomib induced peripheral neuropathy and single nucleotide polymorphisms in PKNOX1 Zhou, Xiang Han, Seungbin Cebulla, Nadine Haertle, Larissa Steinhardt, Maximilian J. Schirmer, Daniel Runau, Eva Flamm, Leon Terhorst, Calvin Jähnel, Laura Vogt, Cornelia Nerreter, Silvia Teufel, Eva Stanojkovska, Emilia Mersi, Julia Munawar, Umair Schindehütte, Magnus Blum, Robert Reinhold, Ann-Kristin Scherf-Clavel, Oliver Rittner, Heike L. Pham, Mirko Rasche, Leo Einsele, Hermann Sommer, Claudia Kortüm, K. Martin Biomark Res Correspondence We analyzed single nucleotide polymorphisms (SNPs) in PKNOX1 (rs2839629) and in the intergenic region between PKNOX1 and CBS (rs915854) by Sanger sequencing in 88 patients with multiple myeloma treated with bortezomib. All patients (n = 13) harboring a homozygous mutation in PKNOX1 (rs2839629) also had a homozygous mutated rs915854 genotype. Homozygous mutated genotypes of rs2839629 and rs915854 were significantly enriched in patients with painful peripheral neuropathy (PNP) (P < 0.0001), and homozygous mutated rs2839629 genotype was significantly enriched in patients with pain compared to patients with no pain (P = 0.04). In summary, both SNPs rs2839629 and/or rs915854 may be potential biomarkers predicting an increased risk to develop painful PNP under bortezomib. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1186/s40364-023-00490-9. BioMed Central 2023-05-16 /pmc/articles/PMC10189922/ /pubmed/37194045 http://dx.doi.org/10.1186/s40364-023-00490-9 Text en © The Author(s) 2023 https://creativecommons.org/licenses/by/4.0/Open AccessThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) . The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/ (https://creativecommons.org/publicdomain/zero/1.0/) ) applies to the data made available in this article, unless otherwise stated in a credit line to the data.
spellingShingle Correspondence
Zhou, Xiang
Han, Seungbin
Cebulla, Nadine
Haertle, Larissa
Steinhardt, Maximilian J.
Schirmer, Daniel
Runau, Eva
Flamm, Leon
Terhorst, Calvin
Jähnel, Laura
Vogt, Cornelia
Nerreter, Silvia
Teufel, Eva
Stanojkovska, Emilia
Mersi, Julia
Munawar, Umair
Schindehütte, Magnus
Blum, Robert
Reinhold, Ann-Kristin
Scherf-Clavel, Oliver
Rittner, Heike L.
Pham, Mirko
Rasche, Leo
Einsele, Hermann
Sommer, Claudia
Kortüm, K. Martin
Bortezomib induced peripheral neuropathy and single nucleotide polymorphisms in PKNOX1
title Bortezomib induced peripheral neuropathy and single nucleotide polymorphisms in PKNOX1
title_full Bortezomib induced peripheral neuropathy and single nucleotide polymorphisms in PKNOX1
title_fullStr Bortezomib induced peripheral neuropathy and single nucleotide polymorphisms in PKNOX1
title_full_unstemmed Bortezomib induced peripheral neuropathy and single nucleotide polymorphisms in PKNOX1
title_short Bortezomib induced peripheral neuropathy and single nucleotide polymorphisms in PKNOX1
title_sort bortezomib induced peripheral neuropathy and single nucleotide polymorphisms in pknox1
topic Correspondence
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10189922/
https://www.ncbi.nlm.nih.gov/pubmed/37194045
http://dx.doi.org/10.1186/s40364-023-00490-9
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