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Association of the IL-6R rs2228145 polymorphism with diabetic nephropathy: A case-control study
Pavla Izakovicova1,2, Simona Slezakova2,3, Tereza Deissova3,4
1Faculty of Medicine, Masaryk University, Brno, Czech Republic.
This study found that the Interleukin-6 receptor (IL-6R) Asp358Ala polymorphism is linked to diabetic nephropathy in Czech type 1 diabetes patients. This genetic factor may influence diabetes complications.
Area of Science:
- Genetics
- Endocrinology
- Immunology
Background:
- Elevated Interleukin-6 (IL-6) levels are implicated in diabetes mellitus (DM) pathogenesis and complications.
- IL-6 exerts its effects via intracellular pathways upon binding to the IL-6 receptor (IL-6R).
Purpose of the Study:
- To investigate the association between single nucleotide polymorphisms (SNPs) in IL-6 and IL-6R genes and DM or its complications in the Czech population.
- Specifically examined IL-6 SNPs (-597G/A, -572G/C, -174G/C) and the IL-6R Asp358Ala polymorphism (rs2228145).
Main Methods:
- A case-control study involving 669 subjects: 167 controls, 119 type 1 DM (T1DM) patients, and 383 type 2 DM (T2DM) patients.
- Monitored participants for glycemic control, HbA1c, lipid profiles, glomerular filtration rate (GFR), and complications including diabetic nephropathy (DN), retinopathy (DR), neuropathy (DPN), and periodontitis.
- Genotyping of specified IL-6 and IL-6R SNPs and haplotype analysis were performed.
Main Results:
- No significant differences in IL-6 or IL-6R allele/genotype frequencies or IL-6 haplotypes were found between controls and DM patients.
- Lower GFR values were observed in diabetic patients with the IL-6 -174CC genotype compared to other genotypes.
- The IL-6R Asp358Ala variant showed a significant association with diabetic nephropathy (DN) in the overall DM cohort (OR=1.74).
- This association between IL-6R polymorphism and DN was specifically significant in T1DM patients (OR=2.90).
Conclusions:
- The IL-6R Asp358Ala polymorphism is significantly associated with diabetic nephropathy in Czech patients with type 1 diabetes.
- This finding suggests a potential genetic predisposition to DN in T1DM, mediated by IL-6R variants.
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