A genetic correlation scan identifies blood proteins associated with bone mineral density

BMC Musculoskelet Disord. 2022 Jun 3;23(1):530. doi: 10.1186/s12891-022-05453-z.

Abstract

Background: Osteoporosis is a common metabolic bone disease that is characterized by low bone mass. However, limited efforts have been made to explore the functional relevance of the blood proteome to bone mineral density across different life stages.

Methods: Using genome-wide association study summary data of the blood proteome and two independent studies of bone mineral density, we conducted a genetic correlation scan of bone mineral density and the blood proteome. Linkage disequilibrium score regression analysis was conducted to assess genetic correlations between each of the 3283 plasma proteins and bone mineral density.

Results: Linkage disequilibrium score regression identified 18 plasma proteins showing genetic correlation signals with bone mineral density in the TB-BMD cohort, such as MYOM2 (coefficient = 0.3755, P value = 0.0328) among subjects aged 0 ~ 15, POSTN (coefficient = - 0.5694, P value = 0.0192) among subjects aged 30 ~ 45 and PARK7 (coefficient = - 0.3613, P value = 0.0052) among subjects aged over 60.

Conclusions: Our results identified multiple plasma proteins associated with bone mineral density and provided novel clues for revealing the functional relevance of plasma proteins to bone mineral density.

Keywords: Blood proteome; Bone mineral density; Genome-wide association study; Human plasma protein; Linkage disequilibrium score regression; Osteoporosis.

MeSH terms

  • Blood Proteins / genetics
  • Bone Density* / genetics
  • Genome-Wide Association Study
  • Humans
  • Osteoporosis* / diagnostic imaging
  • Osteoporosis* / genetics
  • Proteome / genetics

Substances

  • Blood Proteins
  • Proteome