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©The Author(s) 2025. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Diabetes. Feb 15, 2025; 16(2): 94861
Published online Feb 15, 2025. doi: 10.4239/wjd.v16.i2.94861
Published online Feb 15, 2025. doi: 10.4239/wjd.v16.i2.94861
Effect of SPTLC1 on type 2 diabetes mellitus
Bo Yi, Yan Bao, Zhong-Yuan Wen, Department of Endocrinology, Renmin Hospital of Wuhan University, Wuhan 430060, Hubei Province, China
Author contributions: Yi B designed the study and wrote the manuscript; Bao Y performed the research and analyzed the data; Wen ZY contributed analytic tools and revised the manuscript; All authors have read and approved the final manuscript.
Institutional review board statement: The study was reviewed and approved by the Clinical Research Ethics Commission of Renmin Hospital of Wuhan University, No. WDRY2023-K119.
Institutional animal care and use committee statement: The study did not need the statement of animal care and use.
Conflict-of-interest statement: The authors declare that they have no conflict of interest.
Data sharing statement: No additional data are available.
Open-Access: This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: https://creativecommons.org/Licenses/by-nc/4.0/
Corresponding author: Bo Yi, MD, PhD, Doctor, Department of Endocrinology, Renmin Hospital of Wuhan University, No. 238 Jiefang Road, Wuchang District, Wuhan 430060, Hubei Province, China. 1227yb@whu.edu.cn
Received: March 26, 2024
Revised: September 10, 2024
Accepted: November 21, 2024
Published online: February 15, 2025
Processing time: 278 Days and 17.8 Hours
Revised: September 10, 2024
Accepted: November 21, 2024
Published online: February 15, 2025
Processing time: 278 Days and 17.8 Hours
Core Tip
Core Tip: The single gene defects of type 2 diabetes mellitus (T2D) with strong family history is not clear yet. We identified SPTLC1 p.G371R mutation as the likely pathogenic mutation from an adult-onset T2D patients with family history. This mutation induced the expression of tumor necrosis factor-α and the percent of apoptosis in human embryonic kidney 293T cells. Moreover, data from Accelerating Medicines Partnership T2D knowledge showed a positive correlation between rare variant gene-level associations for SPTLC1 and the risk of T2D. This study provides a novel perspective to understand the pathology of T2D.