Document Type


Publication Date




  • First study of PSD3 gene with obesity, type 2 diabetes and HDL cholesterol.

  • Identified 23 SNPs associated with obesity with p < 0.05 in gene discovery.

  • 20 SNPs were associated with obesity in meta-analysis of two samples.

  • 6 SNPs associated with type 2 diabetes and 11 associated with HDL.

  • Findings offer new insights into the pathogenesis of obesity and diabetes.



The pleckstrin and Sec7 domain-containing 3 (PSD3) gene has been linked to immune diseases. We examined whether the genetic variants within the PSD3 gene are associated with obesity, type 2 diabetes (T2D), and high-density lipoprotein (HDL) cholesterol level.


Multiple logistic regression model and linear regression model were used to examine the associations of 259 single nucleotide polymorphisms (SNPs) within the PSD3 gene with obesity and T2D as binary traits, and HDL level as a continuous trait using the Marshfield data, respectively. A replication study of obesity was conducted using the Health Aging and Body Composition (Health ABC) sample.


23 SNPs were associated with obesity (p < 0.05) in the Marshfield sample and rs4921966 revealed the strongest association (p = 3.97 × 10−6). Of the 23 SNPs, 20 were significantly associated with obesity in the meta-analysis of two samples (p < 0.05). Furthermore, 6 SNPs revealed associations with T2D in the Marshfield data (top SNP rs12156368 with p = 3.05 × 10−3); while two SNPs (rs6983992 and rs7843239) were associated with both obesity and T2D (p = 0.0188 and 0.023 for obesity and p = 8.47 × 10−3 and 0.0128 for T2D, respectively). Furthermore, 11 SNPs revealed associations with HDL level (top SNP rs13254772 with p = 2.79 × 10−3) in the Marshfield data; meanwhile rs7009615 was associated with both T2D (p = 0.038) and HDL level (p = 4.44 × 10−3). In addition, haplotype analyses further supported the results of single SNP analysis.


Common variants in PSD3 were associated with obesity, T2D and HDL level. These findings add important new insights into the pathogenesis of obesity, T2D and HDL cholesterol.


Original published version available at

Publication Title

Diabetes Research and Clinical Practice





To view the content in your browser, please download Adobe Reader or, alternately,
you may Download the file to your hard drive.

NOTE: The latest versions of Adobe Reader do not support viewing PDF files within Firefox on Mac OS and if you are using a modern (Intel) Mac, there is no official plugin for viewing PDF files within the browser window.