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Published on: April 19, 2013
Transferrin receptor-1 gene polymorphisms are associated with type 2 diabetes
José Manuel Fernández-Real1, Josep Maria Mercader, Francisco José Ortega
1Section of Diabetes, Endocrinology and Nutrition, Institut d'Investigació Biomédica de Girona and CIBER Fisiopatología de la Obesidad y Nutrición (CB06/03/010), Girona, Spain. jmfernandezreal.girona.ics@gencat.cat
European Journal of Clinical Investigation
|May 26, 2010
Summary
Genetic variations in the transferrin receptor (TFRC) gene are linked to type 2 diabetes (T2D). The G allele of the TFRC gene polymorphism (rs3817672) significantly increases the risk of developing T2D.
Area of Science:
- Genetics
- Metabolic Diseases
- Molecular Biology
Background:
- Iron metabolism is implicated in oxidative stress and the pathogenesis of type 2 diabetes (T2D).
- The transferrin receptor (TFRC) is crucial for cellular iron uptake.
- Investigating TFRC gene variations offers insight into T2D development.
Purpose of the Study:
- To determine if TFRC gene polymorphisms are associated with T2D.
- To explore the relationship between TFRC variants and metabolic parameters in T2D patients.
Main Methods:
- Genotyping of TFRC polymorphism (rs3817672, 210AG, S142G) in T2D patients and controls (n=722).
- Analysis of 39 TFRC SNPs using Welcome Trust Case Control Consortium data (1921 T2D subjects, 3000 controls).
- Assessment of glucose tolerance and insulin sensitivity in a subset of participants.
Main Results:
- The G allele frequency at TFRC rs3817672 was significantly higher in T2D patients.
- Carriers of GG and GA genotypes had a 69% increased risk of T2D (P < 0.01).
- The G allele correlated with elevated serum ferritin and soluble transferrin receptor levels; G allele carriers showed associations between insulin sensitivity, soluble transferrin receptor, and serum ferritin.
Conclusions:
- TFRC gene variants are significantly associated with type 2 diabetes.
- TFRC gene polymorphisms may play a role in T2D pathogenesis.
- Further research into TFRC's role in iron metabolism and diabetes is warranted.
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