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Genetic variants affecting bone mineral density and bone mineral content at multiple skeletal sites in Hispanic

Ruixue Hou1, Shelley A Cole2, Mariaelisa Graff3

  • 1Department of Nutrition and Nutrition Research Institute, University of North Carolina at Chapel Hill, Kannapolis, NC, USA.

Bone
|December 3, 2019
PubMed

Insights

Genetic factors significantly influence bone mineral density (BMD) and bone mineral content (BMC) in Hispanic children. This study identified novel genetic loci associated with these bone traits, advancing understanding of bone health genetics.

Area of Science:

  • Human Genetics
  • Pediatric Bone Health
  • Genomics

Background:

  • Osteoporosis poses a significant public health challenge with substantial economic implications.
  • Research on the genetic underpinnings of bone health in Hispanic children remains limited.

Purpose of the Study:

  • To identify genetic variants linked to bone mineral density (BMD) and bone mineral content (BMC) in Hispanic children.
  • To investigate the genetic architecture of skeletal traits in a pediatric cohort.

Main Methods:

  • Cross-sectional genome-wide linkage and association analyses (GWAS, EWAS) were performed.
  • The study included 1030 Hispanic children (ages 4-19) from the Viva La Familia Study.
  • Dual-energy X-ray absorptiometry (DXA) was used to measure BMD and BMC.

Main Results:

  • Significant heritability for BMC and BMD was observed (44-68%).
  • Linkage evidence was found for BMD on chromosomes 7p14, 20q13, 6p21, and for BMC on 20q12 and 14q22-23.
  • Genome-wide significant associations were identified for BMC (rs762920 at PVALB) and BMD (rs7000615 at PTK2B). Novel associations were found with MEGF10 and ABRAXAS2.

Conclusions:

  • Novel genetic loci associated with BMC and BMD in Hispanic children were identified, with PTK2B showing the strongest evidence.
  • These findings enhance the understanding of bone genetics and the biological mechanisms influencing BMD and BMC variation.
Abstract

Keywords:
BoneChildrenGenetic variantsHispanicOsteoporosis

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