Genetic Analysis of Acid β-Glucosidase in Patients with Multiple Myeloma from Central Taiwan: A Small-Cohort Case-Control Study

Introduction: Multiple myeloma (MM) is an incurable, biologically heterogeneous disease of the plasma cells, associated with older age and is more common in men. Gaucher disease, caused by mutation in acid β-glucosidase (glucocerebrosidase, GBA) gene, has been linked to multiple cancers, especially...

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Auteurs principaux:	Wei-De Lin, Fuu-Jen Tsai
Format:	article
Langue:	EN
Publié:	Karger Publishers 2021
Sujets:	multiple myeloma glucocerebrosidase acid β-glucosidase Medicine (General) R5-920
Accès en ligne:	https://doaj.org/article/8e45d356860e48b28af3b648a0261fcc
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spelling	oai:doaj.org-article:8e45d356860e48b28af3b648a0261fcc2021-12-02T12:40:23ZGenetic Analysis of Acid β-Glucosidase in Patients with Multiple Myeloma from Central Taiwan: A Small-Cohort Case-Control Study2296-687010.1159/000519704https://doaj.org/article/8e45d356860e48b28af3b648a0261fcc2021-11-01T00:00:00Zhttps://www.karger.com/Article/FullText/519704https://doaj.org/toc/2296-6870Introduction: Multiple myeloma (MM) is an incurable, biologically heterogeneous disease of the plasma cells, associated with older age and is more common in men. Gaucher disease, caused by mutation in acid β-glucosidase (glucocerebrosidase, GBA) gene, has been linked to multiple cancers, especially MM. Pathological accumulation of glucosylceramide and complex glycosphingolipids coupled with chronic inflammation may be the cause of cancer in patients with Gaucher disease. In this study, we hypothesized patients with MM have mutations in the GBA gene and analyzed patients with MM to determine whether they have a higher frequency of GBA variants. Methods: Twenty-four MM samples were acquired from the Human Biobank, China Medical University Hospital, Taichung, Taiwan. GBA mutations were detected by polymerase chain reaction-directed DNA sequencing. Results: We found no mutations in the coding regions of GBA in any of the 24 study subjects. However, two single-nucleotide polymorphisms, rs2070679 and rs2361534, were identified. A significant difference was observed between the study and control groups (p = 0.0028) in rs2361534 allele distribution, with the C allele frequency being higher in patients (1/48, 2.1%) than in the control group (5/3030, 0.16%, Taiwan Biobank). Conclusion: In this study, the sample size was limited and GBA enzyme activity was not measured; therefore, we could not establish a direct correlation between MM and GBA mutations. However, the association of rs2361534 suggests that regions around this single-nucleotide polymorphism may be involved in MM. The relationship between MM and GBA mutations remains unclear. A large sample is required for a detailed analysis of this potential relationship.Wei-De LinFuu-Jen TsaiKarger Publishersarticlemultiple myelomaglucocerebrosidaseacid β-glucosidaseMedicine (General)R5-920ENBiomedicine Hub, Vol 6, Iss 3, Pp 138-144 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	multiple myeloma glucocerebrosidase acid β-glucosidase Medicine (General) R5-920
spellingShingle	multiple myeloma glucocerebrosidase acid β-glucosidase Medicine (General) R5-920 Wei-De Lin Fuu-Jen Tsai Genetic Analysis of Acid β-Glucosidase in Patients with Multiple Myeloma from Central Taiwan: A Small-Cohort Case-Control Study
description	Introduction: Multiple myeloma (MM) is an incurable, biologically heterogeneous disease of the plasma cells, associated with older age and is more common in men. Gaucher disease, caused by mutation in acid β-glucosidase (glucocerebrosidase, GBA) gene, has been linked to multiple cancers, especially MM. Pathological accumulation of glucosylceramide and complex glycosphingolipids coupled with chronic inflammation may be the cause of cancer in patients with Gaucher disease. In this study, we hypothesized patients with MM have mutations in the GBA gene and analyzed patients with MM to determine whether they have a higher frequency of GBA variants. Methods: Twenty-four MM samples were acquired from the Human Biobank, China Medical University Hospital, Taichung, Taiwan. GBA mutations were detected by polymerase chain reaction-directed DNA sequencing. Results: We found no mutations in the coding regions of GBA in any of the 24 study subjects. However, two single-nucleotide polymorphisms, rs2070679 and rs2361534, were identified. A significant difference was observed between the study and control groups (p = 0.0028) in rs2361534 allele distribution, with the C allele frequency being higher in patients (1/48, 2.1%) than in the control group (5/3030, 0.16%, Taiwan Biobank). Conclusion: In this study, the sample size was limited and GBA enzyme activity was not measured; therefore, we could not establish a direct correlation between MM and GBA mutations. However, the association of rs2361534 suggests that regions around this single-nucleotide polymorphism may be involved in MM. The relationship between MM and GBA mutations remains unclear. A large sample is required for a detailed analysis of this potential relationship.
format	article
author	Wei-De Lin Fuu-Jen Tsai
author_facet	Wei-De Lin Fuu-Jen Tsai
author_sort	Wei-De Lin
title	Genetic Analysis of Acid β-Glucosidase in Patients with Multiple Myeloma from Central Taiwan: A Small-Cohort Case-Control Study
title_short	Genetic Analysis of Acid β-Glucosidase in Patients with Multiple Myeloma from Central Taiwan: A Small-Cohort Case-Control Study
title_full	Genetic Analysis of Acid β-Glucosidase in Patients with Multiple Myeloma from Central Taiwan: A Small-Cohort Case-Control Study
title_fullStr	Genetic Analysis of Acid β-Glucosidase in Patients with Multiple Myeloma from Central Taiwan: A Small-Cohort Case-Control Study
title_full_unstemmed	Genetic Analysis of Acid β-Glucosidase in Patients with Multiple Myeloma from Central Taiwan: A Small-Cohort Case-Control Study
title_sort	genetic analysis of acid β-glucosidase in patients with multiple myeloma from central taiwan: a small-cohort case-control study
publisher	Karger Publishers
publishDate	2021
url	https://doaj.org/article/8e45d356860e48b28af3b648a0261fcc
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Genetic Analysis of Acid β-Glucosidase in Patients with Multiple Myeloma from Central Taiwan: A Small-Cohort Case-Control Study

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