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Updated: May 30, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
Arginase 1 genetic variation is associated with the risk of vascular complications in type 2 diabetes
Objective:
This study aims to explore the association between arginase 1 (ARG1) genetic variation and susceptibility to type 2 diabetes (T2DM) vascular complications, a primary cause of morbidity and mortality in diabetics.
Methods:
ARG1, a risk gene for cardiovascular disease, was identified from GEO datasets GSE22255 and GSE58294. The ENCODE database identified four candidate single-nucleotide polymorphism (SNP) loci. Nine hundred ninety-two T2DM patients underwent SNP genotyping, and relevant biochemical markers were tested. Logistic regression analysis calculated the odds ratio (OR) and 95% confidence interval (CI) between ARG1 SNP and diabetic vascular complications.
Results:
Out of 985 patients, 250 had CHD, with the TTTG group accounting for 64/250. This group showed a significant reduction in CHD risk (non-TTTG factor-adjusted OR = 1.61, 95% CI: 1.14-2.29, p = 0.008). The combination of the TTTG group, age, central obesity, and hypertension better predicted CHD risk (Area under the curve = 0.72, p < 0.001).
Conclusions:
ARG1 polymorphisms significantly impact vascular complications in T2DM patients, implying that ARG1 genetic variation may be a potential prevention and treatment target.
Trial Registration:
ChiCTR1800015661.
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