Abstract | INTRODUCTION: 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.
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Authors | Wei-De Lin, Fuu-Jen Tsai |
Journal | Biomedicine hub
(Biomed Hub)
2021 Sep-Dec
Vol. 6
Issue 3
Pg. 138-144
ISSN: 2296-6870 [Electronic] Switzerland |
PMID | 35083226
(Publication Type: Journal Article)
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Copyright | Copyright © 2021 by The Author(s). Published by S. Karger AG, Basel. |