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PSMD9 is linked to MODY3.

Claudia Gragnoli¹

¹Molecular Biology Laboratory, Bios Biotech Multi-Diagnostic Health Center, Rome, Italy. claudia.gragnoli@gmail.com

Journal of Cellular Physiology

|January 14, 2010

Summary

This study reveals that the PSMD9 A/T/G haplotype interacts with MODY3 mutations in Italian families, suggesting a digenic additive model for type 2 diabetes (T2D) and highlighting the need for PSMD9 testing in MODY3 families.

Area of Science:

Genetics
Endocrinology
Molecular Biology

Background:

Type 2 diabetes (T2D) is linked to chromosome 12q24.2 (NIDDM2 locus).
The PSMD9 gene, located in this region, contributes to T2D through mutations and a common haplotype (A/T/G).
Previous studies excluded linkage disequilibrium between PSMD9 SNPs and the MODY3 gene.

Purpose of the Study:

To investigate the presence and segregation of the PSMD9 A/T/G haplotype in Italian MODY3 families.
To determine if a digenic additive model exists involving MODY3 mutations and the PSMD9 haplotype in T2D pathogenesis.
To assess the clinical relevance of PSMD9 testing in MODY3 families.

Main Methods:

Genotyping of PSMD9 SNPs (IVS3 + nt460A/IVS3 + nt437T/G197) and linkage markers (D12S1721/D12S2073).

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Non-parametric and parametric linkage analyses.

Linkage disequilibrium (LD) modeling.

Main Results:

The PSMD9 A/T/G haplotype is linked to established MODY3 mutations in Italy-1 and Italy-3 families.
Evidence supports a digenic additive model where MODY3 mutations and PSMD9 SNPs act together to cause diabetes.
The PSMD9 A/T/G haplotype cosegregates with MODY3/diabetes in these families.

Conclusions:

The PSMD9 A/T/G haplotype contributes to MODY3/T2D through an additive model with MODY3 mutations.
Testing all MODY3 families for the PSMD9 A/T/G haplotype is recommended.
This finding has significant potential clinical implications for T2D diagnosis and management.