Association of SLC11A1 polymorphisms with anthropometric and biochemical parameters describing Type 2 Diabetes Mellitus

• Published in: Scientific reports 2023-04, Vol.13 (1), p.6195-6195, Article 6195
• Main Authors: Kavian, Zahra, Sargazi, Saman, Majidpour, Mahdi, Sarhadi, Mohammad, Saravani, Ramin, Shahraki, Mansour, Mirinejad, Shekoufeh, Heidari Nia, Milad, Piri, Maryam
• Format: Article
• Language: English
• Subjects: 631/208/205; 631/208/721; 692/53; 692/699/317; Body measurements; Case-Control Studies; Diabetes; Diabetes mellitus (non-insulin dependent); Diabetes Mellitus, Type 2 - genetics; Endocrine disorders; Gene polymorphism; Genetic Predisposition to Disease; Genotype; Hemoglobin; Humanities and Social Sciences; Humans; multidisciplinary; Polymerase chain reaction; Polymorphism, Genetic; Polymorphism, Restriction Fragment Length; Polymorphism, Single Nucleotide; Restriction fragment length polymorphism; Science; Science (multidisciplinary); SLC11A1 gene; Splicing factors
• ISSN: 2045-2322; 2045-2322
• DOI: 10.1038/s41598-023-33239-3

Diabetes, a leading cause of death globally, has different types, with Type 2 Diabetes Mellitus (T2DM) being the most prevalent one. It has been established that variations in the SLC11A1 gene impact risk of developing infectious, inflammatory, and endocrine disorders. This study is aimed to investigate the association between the SLC11A1 gene polymorphisms (rs3731864 G/A, rs3731865 C/G, and rs17235416 + TGTG/− TGTG) and anthropometric and biochemical parameters describing T2DM. Eight hundred participants (400 in each case and control group) were genotyped using the polymerase chain reaction-restriction fragment length polymorphism (PCR–RFLP) and amplification-refractory mutation system-PCR (ARMS-PCR) methods. Lipid profile, fasting blood sugar (FBS), hemoglobin A1c level, and anthropometric indices were also recorded for each subject. Findings revealed that SLC11A1 –rs3731864 G/A, –rs17235416 (+ TGTG/− TGTG) were associated with T2DM susceptibility, providing protection against the disease. In contrast, SLC11A1 –rs3731865 G/C conferred an increased risk of T2DM. We also noticed a significant association between SLC11A1 –rs3731864 G/A and triglyceride levels in patients with T2DM. In silico evaluations demonstrated that the SLC11A2 and ATP7A proteins also interact directly with the SLC11A1 protein in Homo sapiens . In addition, allelic substitutions for both intronic variants disrupt or create binding sites for splicing factors and serve a functional effect. Overall, our findings highlighted the role of SLC11A1 gene variations might have positive (rs3731865 G/C) or negative (rs3731864 G/A and rs17235416 + TGTG/− TGTG) associations with a predisposition to T2DM.