This study aimed to investigate the clinical characteristics, glycemic control, and microvascular complications compared between young-onset type 1 (T1DM) and type 2 diabetes (T2DM) patients at Siriraj Hospital. Patients and Methods: We collected demographic, clinical, glycemic control, and microvascular complication data of young-onset (onset <30 years of age) T1DM and T2DM patients at our center using February 2019-December 2020 data from the Thai Type 1 Diabetes and Diabetes diagnosed Age before 30 years Registry, Care and Network (T1DDAR CN). Results: Of 396 patients, 76% had T1DM and 24% had T2DM. At diagnosis, T1DM were significantly younger (9.7±5.4 vs 16.9±6.4 years, p<0.001), had a lower body mass index (17.2±4.1 vs 30.8±7.9 kg/m 2 , p<0.001), higher prevalence of diabetic ketoacidosis (DKA) (66.1% vs 13.7%, p<0.001), and higher HbA 1c level (12.8±2.6% vs 10.9±3.1%, p=0.002) compared to T2DM. Regarding glycemic control, the mean HbA 1c at registry enrollment did not differ between groups (T1DM 8.3±1.8% vs T2DM 8.1±2.2%, p=0.303), but T1DM achieved HbA 1c <7% significantly less than T2DM (19.3% vs 47.8%, p<0.001). T1DM showed deterioration of glycemic control during 10-20 years of age, and gradually improved during 20-30 years of age, whereas patients with T2DM showed progressive worsening of glycemic control over time. Concerning microvascular complications, the prevalence of diabetic retinopathy (10.6% vs 9%, p=0.92) and diabetic neuropathy (3.4% vs 5.5%, p=0.514) between T1DM and T2DM was not significantly different. However, T2DM had a significantly higher prevalence of diabetic nephropathy (T1DM 10.1% vs T2DM 40.2%, p<0.001) that developed within a significantly shorter duration of diabetes (T1DM 11.0±6.8 vs T2DM 4.3±5.1 years, p<0.001) compared to T1DM. Conclusion: T1DM had a significantly high prevalence of DKA at presentation, and most T1DM did not achieve the glycemic target, especially during adolescence. T2DM had a significantly higher prevalence of diabetic nephropathy that developed within a shorter duration of diabetes compared to T1DM.

PAX4 IVS7-1G>A caused aberrant mRNA splicing and PAX4 Q250 deletion. The mutation impaired PAX4 repressor functions on target-gene promoters and increased susceptibility to apoptosis upon high glucose exposure. Thus, PAX4 IVS7-1G>A contributes to the pathogenesis of diabetes in this MODY9 family through β-cell dysfunction.

BackgroundSeveral type 2 diabetes (T2D) susceptibility loci identified via genome-wide association studies were found to be replicated among various populations. However, the influence of these loci on T2D in Thai population is unknown. The aim of this study was to investigate the influence of eight single nucleotide polymorphisms (SNPs) reported in GWA studies on T2D and related quantitative traits in Thai population.MethodsEight SNPs in or near the KCNQ1, CDKN2A/2B, SLC30A8, HHEX, CDKAL1, TCF7L2, MTNR1B, and UBE2E2 genes were genotyped. A case-control association study comprising 500 Thai patients with T2D and 500 ethnically-matched control subjects was conducted. Associations between SNPs and T2D were examined by logistic regression analysis. The impact of these SNPs on quantitative traits was examined by linear regression among case and control subjects.ResultsFive SNPs in KCNQ1 (rs2237892), CDK2A/2B (rs108116610, SLC30A8 (rs13266634), TCF7L2 (rs7903146) and MTNR1B (rs1387153) were found to be marginally associated with risk of developing T2D, with odds ratios ranging from 1.43 to 2.02 (p = 0.047 to 3.0 × 10–4) with adjustments for age, sex, and body mass index. Interestingly, SNP rs13266634 of SLC30A8 gene reached statistical significance after correcting for multiple testing (p = 0.0003) (p < 0.006 after Bonferroni correction). However, no significant association was detected between HHEX (rs1111875), CDKAL1 (rs7756992), or UBE2E2 (rs7612463) and T2D. We also observed association between rs10811661 and both waist circumference and waist-hip ratio (p = 0.007 and p = 0.023, respectively). In addition, rs13266634 in SLC30A8 was associated with glycated hemoglobin (p = 0.018), and rs7903146 in TCF7L2 was associated with high-density lipoprotein cholesterol level (p = 0.023).ConclusionOf the eight genes included in our analysis, significant association was observed between KCNQ1, CDKN2A/2B, SLC30A8, TCF7L2, and MTNR1B loci and T2D in our Thai study population. Of these, CDKN2A/2B, SLC30A8, and TCF7L2 genes were also significantly associated with anthropometric, glycemic and lipid characteristics. Larger cohort studies and meta-analyses are needed to further confirm the effect of these variants in Thai population.Electronic supplementary materialThe online version of this article (10.1186/s12881-018-0614-9) contains supplementary material, which is available to authorized users.