Abstract

Cardiovascular disease (CVD) is a class of diseases that involve the heart or blood vessels. It is reported that body mass index (BMI) is risk factor for CVD. Genome-wide association studies (GWAS) have recently provided rapid insights into genetics of CVD and its risk factors. However, the specific mechanisms how BMI influences CVD risk are largely unknown. We think that BMI may influences CVD risk by shared genetic pathways. In order to confirm this view, we conducted a pathway analysis of BMI GWAS, which examined approximately 329,091 single nucleotide polymorphisms from 4763 samples. We identified 31 significant KEGG pathways. There is literature evidence supporting the involvement of GnRH signaling, vascular smooth muscle contraction, dilated cardiomyopathy, Gap junction, Wnt signaling, Calcium signaling and Chemokine signaling in CVD. Collectively, our study supports the potential role of the CVD risk pathways in BMI. BMI may influence CVD risk by the shared genetic pathways. We believe that our results may advance our understanding of BMI mechanisms in CVD.

Highlights

  • Much effort has been put into identifying the genetic determinants of Cardiovascular disease (CVD)

  • In order to confirm this view, we conducted a pathway analysis of body mass index (BMI) Genome-wide association studies (GWAS), which examined approximately 329,091 single nucleotide polymorphisms (SNPs) from 4763 samples

  • TFAP2B is the most significant gene, which is reported to be significantly associated with BMI by previous studies[19,20,21]

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Summary

Introduction

Genome-wide association studies (GWAS) have recently provided rapid insights into genetics of CVD and its risk factors[5,6,7,8,9,10,11]. These newly identified susceptibility loci exert very small risk effects and cannot fully explain the underlying genetic risk. The specific mechanisms how BMI influences CVD risk are largely unknown. We think that BMI may influences CVD risk by shared genetic pathways. In order to confirm this view, we conducted a pathway analysis of BMI GWAS, which examined approximately 329,091 single nucleotide polymorphisms (SNPs) from 4763 samples

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