Research Papers: Pathology:

Detection of susceptibility loci on APOA5 and COLEC12 associated with metabolic syndrome using a genome-wide association study in a Taiwanese population

Eugene Lin _, Po-Hsiu Kuo, Yu-Li Liu, Albert C. Yang and Shih-Jen Tsai

PDF  |  HTML  |  Supplementary Files  |  How to cite

Oncotarget. 2017; 8:93349-93359. https://doi.org/10.18632/oncotarget.20967

Metrics: PDF 1536 views  |   HTML 2467 views  |   ?  


Eugene Lin1,2,3, Po-Hsiu Kuo4, Yu-Li Liu5, Albert C. Yang6,7,8 and Shih-Jen Tsai6,7

1 Graduate Institute of Biomedical Sciences, China Medical University, Taichung, Taiwan

2 Vita Genomics, Inc., Taipei, Taiwan

3 TickleFish Systems Corporation, Seattle, WA, USA

4 Department of Public Health, Institute of Epidemiology and Preventive Medicine, National Taiwan University, Taipei, Taiwan

5 Center for Neuropsychiatric Research, National Health Research Institutes, Miaoli County, Taiwan

6 Department of Psychiatry, Taipei Veterans General Hospital, Taipei, Taiwan

7 Division of Psychiatry, National Yang-Ming University, Taipei, Taiwan

8 Division of Interdisciplinary Medicine and Biotechnology, Beth Israel Deaconess Medical Center/Harvard Medical School, Boston, MA, USA

Correspondence to:

Eugene Lin, email:

Shih-Jen Tsai, email:

Keywords: gene-gene interactions, genome-wide association studies, metabolic syndrome, single nucleotide polymorphisms, Pathology Section

Received: July 14, 2017 Accepted: September 04, 2017 Published: September 16, 2017


Background: Although the association of single nucleotide polymorphisms (SNPs) with metabolic syndrome (MetS) has been reported in various populations in several genome-wide association studies (GWAS), the data is not conclusive. In this GWAS study, we assessed whether SNPs are associated with MetS and its individual components independently and/or through complex interactions in a Taiwanese population.

Methods: A total of 10,300 Taiwanese subjects were assessed in this study. Metabolic traits such as waist circumference, triglyceride, high-density lipoprotein (HDL) cholesterol, systolic and diastolic blood pressure, and fasting glucose were measured.

Results: Our data showed an association of MetS at the genome-wide significance level (P < 8.6 x 10-8) with two SNPs, including the rs662799 SNP in the apolipoprotein A5 (APOA5) gene and thers16944558 SNP in the collectin subfamily member 12 (COLEC12) gene. Moreover, we identified the effect of APOA5 rs662799 on triglyceride and HDL, the effect of rs1106475 in the actin filament associated protein 1 like 2 (AFAP1L2) gene on systolic blood pressure, and the effect of rs17667932 in the mediator complex subunit 30 (MED30) gene on fasting glucose. Additionally, we found that an interaction between the APOA5 rs662799 and COLEC12 rs16944558 SNPs influenced MetS, high triglyceride, and low HDL.

Conclusions: Our study indicates that the APOA5 and COLEC12 genes may contribute to the risk of MetS and its individual components independently as well as through gene-gene interactions.

Creative Commons License All site content, except where otherwise noted, is licensed under a Creative Commons Attribution 4.0 License.
PII: 20967