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PSMD9 is linked to type 2 diabetes neuropathy
1Molecular Biology Laboratory, Bios Biotech Multi-Diagnostic Health Center, Rome, Italy. claudia.gragnoli@gmail.com
Journal of Diabetes and Its Complications
|August 5, 2011
Summary
The proteasome modulator 9 (PSMD9) gene single nucleotide polymorphisms (SNPs) contribute to the genetic risk of diabetic neuropathy in type 2 diabetes (T2D) patients. Our study in Italian families shows a statistically significant additive model-based inheritance for this genetic risk.
Area of Science:
- Genetics
- Neurology
- Endocrinology
Background:
- Diabetic neuropathy is a common complication of type 2 diabetes (T2D).
- Genetic factors are implicated in the inheritance of diabetic neuropathy.
- The proteasome modulator 9 (PSMD9) gene is linked to T2D and maturity-onset diabetes.
Purpose of the Study:
- To investigate the role of PSMD9 gene single nucleotide polymorphisms (SNPs) in the inheritance of diabetic neuropathy in T2D patients.
- To analyze the genetic linkage between PSMD9 SNPs and diabetic neuropathy in Italian families.
Main Methods:
- Characterization of 200 Italian families with T2D for the presence or absence of diabetic neuropathy.
- Linkage analysis of PSMD9 SNPs (IVS3+nt460A/G, IVS3+nt437C/T, E197G) using nonparametric and parametric methods with Merlin software.
- Calculation of LOD scores and P values, with empirical P values determined through 1000 replicates for significance assessment.
Main Results:
- The study reports on the linkage analysis of specific PSMD9 SNPs in Italian families affected by T2D neuropathy.
- Identified specific PSMD9 SNPs associated with diabetic neuropathy in the Italian cohort.
Conclusions:
- The studied PSMD9 gene SNPs are significant contributors to the genetic risk of diabetic neuropathy in the investigated Italian population.
- Evidence suggests an additive model-based inheritance for the genetic risk of diabetic neuropathy associated with PSMD9 SNPs.
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