ORIGINAL RESEARCH article
Front. Endocrinol.
Sec. Clinical Diabetes
Volume 16 - 2025 | doi: 10.3389/fendo.2025.1551159
Association of acyl-CoA oxidase like gene polymorphisms with risk, onset-age and beta-cell function of type 1 diabetes in Chinese
Provisionally accepted- Department of Endocrinology and Metabolism, Second Xiangya Hospital, Central South University, Changsha, China
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Introduction: Genome-wide association studies in Caucasians suggested an association between the acyl-CoA oxidase like (ACOXL) gene and type 1 diabetes (T1D). We investigated if polymorphisms in ACOXL conferred susceptibility to T1D in Chinese and how they affected the clinical characteristics of T1D. Methods: MassARRAY was performed in this case-control study to genotype rs4849165 and rs4849135 of ACOXL in a collection of 1280 patients with T1D and 1331 non-diabetic subjects. Results: The minor allele C of rs4849165 was associated with an increased risk of T1D (P = 0.0013, OR = 1.21). Moreover, individuals with the C/C genotype exhibited significantly lower postprandial C-peptide levels compared with T allele carriers (P = 0.0058, OR = 1.76). The minor allele T of rs4849135 was associated with a decreased risk for T1D (P = 0.0098, OR 0.85) and a lower likelihood of having a low level of post-prandial C-peptide (P = 0.0213, OR 0.78). Patients with G/T or T/T genotypes were more likely to be diagnosed during adulthood than those with G/G genotype (P = 0.0206, OR 0.77). No correlation with GADA, IA-2A or ZnT8A could be reported here. Discussion: Polymorphisms in ACOXL were associated with susceptibility to T1D in Chinese and showed associations with age at onset and beta-cell function. These loci, together with other genetic signals, may contribute to the development of risk models for identifying genetically susceptible individuals in the Chinese population.
Keywords: Chinese, type 1 diabetes, Genetics, ACOXL, SNP
Received: 24 Dec 2024; Accepted: 04 Sep 2025.
Copyright: © 2025 Liu, Xia, Xie, Li, Huang, Zhou and Hu. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence:
Zhiguang Zhou, Department of Endocrinology and Metabolism, Second Xiangya Hospital, Central South University, Changsha, China
Jingyi Hu, Department of Endocrinology and Metabolism, Second Xiangya Hospital, Central South University, Changsha, China
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