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TGF-β1 Gene Polymorphisms in Saudi Patients With Type 2 Diabetes With or Without Diabetic Nephropathy.
Amani Alhozali1, Suad Muthaffar2, Samar Sultan2,3
1Department of Medicine, Faculty of Medicine, King Abdulaziz University, Jeddah, Saudi Arabia, kau.edu.sa.
International Journal of Endocrinology
|April 3, 2026
Summary
Transforming growth factor-beta 1 (TGF-β1) gene polymorphisms rs1800469 and rs1800470 are not linked to Type 2 diabetes (T2D) or diabetic nephropathy (DN) in Saudi patients. However, TGF-β1 rs1800470 is associated with albuminuria in DN patients.
Area of Science:
- Genetics
- Nephrology
- Endocrinology
Background:
- Diabetic nephropathy (DN) is a severe complication of Type 2 diabetes (T2D).
- Transforming growth factor-beta 1 (TGF-β1), a key profibrotic cytokine, plays a role in DN pathogenesis.
- Gene polymorphisms in TGF-β1 can influence its expression and impact DN development.
Purpose of the Study:
- To investigate the genotypic and allelic frequencies of TGF-β1 gene polymorphisms (rs1800469 and rs1800470).
- To determine the association between these TGF-β1 single-nucleotide polymorphisms (SNPs) and the risk of developing DN in Saudi T2D patients.
Main Methods:
- A case-control study involving 204 participants (76 controls, 81 T2D without DN, 47 T2D with DN).
- Genotyping of TGF-β1 SNPs (rs1800469 and rs1800470) using real-time PCR and TaqMan, with Sanger sequencing for validation.
- Chi-square testing was employed to analyze associations between genotype/allele frequencies and T2D/DN risk.
Main Results:
- No significant differences in the distribution of rs1800469 and rs1800470 polymorphisms were found between T2D patients and controls, or between DN patients and controls.
- Patients with DN carrying the A/A genotype of TGF-β1 rs1800470 exhibited the highest albumin levels, while G/G genotype carriers had the lowest.
- TGF-β1 rs1800470 and albuminuria showed a significant association with DN.
Conclusions:
- TGF-β1 rs1800470 and albuminuria are significantly associated with diabetic nephropathy.
- TGF-β1 rs1800469 and rs1800470 polymorphisms were not significantly associated with T2D development or DN progression in the studied Saudi population.
- Further research is warranted to elucidate the role of TGF-β1 rs1800470 genotypes in the pathogenesis of DN.
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