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Integrative proteogenomic analysis identifies COL6A3-derived endotrophin as a mediator of the effect of obesity on

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Obesity elevates cardiometabolic disease risk. Researchers identified collagen type VI α3 (COL6A3) and its product, endotrophin, as key protein mediators, suggesting endotrophin as a therapeutic target for obesity-related conditions.

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Area of Science:

  • Biochemistry
  • Genetics
  • Cardiovascular Medicine

Background:

  • Obesity is a major risk factor for cardiometabolic diseases like coronary artery disease, stroke, and type 2 diabetes.
  • The specific protein mediators linking obesity to these diseases remain incompletely understood.
  • Circulating protein levels are significantly influenced by obesity, suggesting their role in mediating disease risk.

Purpose of the Study:

  • To identify and prioritize circulating proteins that mediate the relationship between obesity and cardiometabolic diseases.
  • To investigate the role of collagen type VI α3 (COL6A3) and its derivatives in mediating obesity-related disease risk.
  • To explore potential therapeutic strategies targeting identified protein mediators.

Main Methods:

  • Utilized two-step proteome-wide Mendelian randomization to investigate causal protein-trait associations.
  • Integrated colocalization, epigenomics, and single-cell RNA sequencing to identify and prioritize mediators.
  • Analyzed the association of body mass index with COL6A3 levels and its impact on coronary artery disease risk.

Main Results:

  • Identified five protein mediators, with collagen type VI α3 (COL6A3) being a top priority.
  • Demonstrated that higher body mass index strongly increases COL6A3 levels, which in turn elevates coronary artery disease risk.
  • Confirmed that endotrophin, a carboxyl terminus product of COL6A3, is the primary driver of this effect and is expressed in relevant tissues.

Conclusions:

  • Circulating proteins, particularly COL6A3-derived endotrophin, play a significant role in mediating the cardiometabolic risks associated with obesity.
  • Endotrophin is a promising therapeutic target for mitigating obesity-driven cardiovascular disease.
  • Reducing body fat can lower plasma endotrophin levels, offering a practical approach for intervention.