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Open Access Open Badges Original investigation

Overweight condition and waist circumference and a candidate gene within the 12q24 locus

Claudia Gragnoli

Author Affiliations

Laboratory of Molecular Genetics of Complex and Monogenic Disorders, Department of Medicine and Cellular & Molecular Physiology and Biostatistics, M. S. Hershey Medical Center, Penn State University College of Medicine, Hershey, PA, USA

Center for Biotechnology and Department of Biology, Temple University’s College of Science & Technology, Philadelphia, PA, USA

Molecular Biology Laboratory, Bios Biotech Multi-Diagnostic Health Center, Rome, Italy

Cardiovascular Diabetology 2013, 12:2  doi:10.1186/1475-2840-12-2

Published: 3 January 2013



Obesity and obesity-associated phenotypes are linked to the chromosome12q24 locus, the non-insulin-dependent-diabetes 2 (NIDDM2) locus. The gene of proteasome modulator 9 (PSMD9) lies in the NIDDM2 region and is linked to type 2 diabetes (T2D), microvascular and macrovascular complications of T2D.

We aimed at studying whether the PSMD9 T2D risk single nucleotide polymorphisms (SNPs) IVS3+nt460, IVS3+nt437, and 197G are linked to obesity, overweight status and waist circumference in Italian T2D families.

Methods and results

We screened 200 Italians T2D siblings/families for PSMD9 variants. Using Merlin software, we performed non-parametric linkage analysis to test for linkage with obesity and overweight condition and variance component analysis to test for linkage with waist circumference in our T2D siblings/families dataset.

Our study shows that the PSMD9 SNPs IVS3+nt460, IVS3+nt437, and 197G are in linkage with overweight condition and waist circumference in Italians. The statistical power tests performed via simulations on real data confirm that the results are not due to random chance.


In summary, the linkage strategy using a homogeneous family/subject dataset can identify a gene contributing to a complex trait. PMSD9 may be at least one of the genes responsible for the linkage to obesity and obesity-associated phenotypes at the locus 12q24 in other populations.

PSMD9; SNP; Linkage; 12q24; Overweight; Waist