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MTHFR gene variant is not associated with diabetic nephropathy in Japanese
M Odawara1, K Yamashita, N Yamada
1Institute of Clinical Medicine, University of Tsukuba, Ibaraki, Japan.
Abstract:
Genetic predisposition has been implicated in diabetic nephropathy. The C677T variant of the MTHFR gene has been suggested to play a role in the development of not only vascular diseases but also diabetic microangiopathies. By using polymerase chain reaction-restriction length polymorphism (PCR-RFLP) method using Hinf I, we investigated whether this variant is associated with diabetic nephropathy in Japanese. By analysing 274 unrelated Japanese patients with type II DM with or without nephropathy, there was no significant difference in the genotype distribution of this variant. The distribution of the three genotypes were not different among patients with micro- or macroalbuminuria and those without nephropathy. Although previous reports suggest a role of this variant with diabetic microangiopathies, our observations suggest that this variant is does not play an important role in the pathogenesis of diabetic nephropathy in Japanese.
Insights
The MTHFR gene C677T variant is not significantly associated with diabetic nephropathy in Japanese patients. This finding suggests it does not play a major role in the development of this diabetes complication.
Area of Science:
- Genetics
- Nephrology
- Endocrinology
Background:
- Diabetic nephropathy is a common complication of diabetes mellitus.
- Genetic factors are believed to contribute to diabetic nephropathy.
- The methylenetetrahydrofolate reductase (MTHFR) gene C677T variant has been linked to vascular diseases and diabetic microangiopathies.
Purpose of the Study:
- To investigate the association between the MTHFR gene C677T variant and diabetic nephropathy in a Japanese population.
- To determine if MTHFR C677T genotype influences the risk or progression of diabetic nephropathy.
Main Methods:
- Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) using Hinf I was employed.
- Genotype distribution of the MTHFR C677T variant was analyzed in 274 Japanese patients with type II diabetes mellitus.
- Patients were categorized based on the presence or absence of nephropathy, including microalbuminuria and macroalbuminuria.
Main Results:
- No significant difference in the genotype distribution of the MTHFR C677T variant was observed between patients with and without diabetic nephropathy.
- The distribution of the three genotypes (wild-type, heterozygous, homozygous) did not differ among patients with varying degrees of albuminuria or those without nephropathy.
Conclusions:
- The MTHFR gene C677T variant does not appear to play a significant role in the pathogenesis of diabetic nephropathy in the Japanese population.
- These findings contrast with previous reports suggesting a role for this variant in diabetic microangiopathies.
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