Abstract
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 1,280 patients with T1D and 1,331 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 postprandial 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 glutamic acid decarboxylase antibodies (GADA), protein tyrosine phosphatase antibodies (IA-2A), or zinc transporter 8 antibodies (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 to identify genetically susceptible individuals in the Chinese population.