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A single genetic locus associated with pediatric fractures: A genome-wide association study on 3,230 patients

Roope Parviainen1, Sini Skarp2,3, Linda Korhonen1

  • 1Department of Children and Adolescents, Oulu Childhood Fracture and Sports Injury Study, Research Unit for Pediatrics, Pediatric Neurology, Pediatric Surgery, Child Psychiatry, Dermatology, Clinical Genetics, Obstetrics and Gynecology, Otorhinolaryngology and Ophthalmology (PEDEGO), Oulu Medical Research Center (MRC), University of Oulu and Oulu University Hospital, FI-90029 Oulu, Finland.

Experimental and Therapeutic Medicine
|August 4, 2020
PubMed

Insights

This study identified genetic variations linked to childhood fractures using genome-wide association studies. A significant locus on chromosome 10 near PROSER2 genes suggests new targets for understanding pediatric fracture risk.

Area of Science:

  • Genetics
  • Pediatrics
  • Orthopedics

Background:

  • Understanding pediatric fracture risk factors, particularly genetic influences on immature bone, is limited.
  • Previous research suggests heritable traits contribute to fractures, but specific genetic factors remain unclear.

Purpose of the Study:

  • To identify genetic variations associated with bone fractures in early childhood.
  • To investigate genetic influences on immature bone susceptibility to fractures.

Main Methods:

  • Utilized the Northern Finland Birth Cohort (1986) with genotype data from 3,230 individuals.
  • Conducted a genome-wide association study (GWAS) comparing 48 children with fractures to 3,182 controls.
  • Employed linear regression with single-nucleotide polymorphisms (SNPs) adjusting for sex and population stratification.

Main Results:

  • Identified one significant locus (rs112635931) on chromosome 10 associated with childhood fractures.
  • Discovered six additional loci with suggested implications for fracture risk.
  • The lead SNP rs112635931 is located near PROSER2-AS1 and PROSER2 genes.

Conclusions:

  • PROSER2-AS1 and PROSER2 are suggested as novel candidate genes for pediatric fracture risk.
  • The findings provide insights into the genetic basis of fractures in early childhood.
  • Further research is warranted to elucidate the role of these genes in bone health.

Keywords:
childrencohortfracturesgeneticsgenome-wide association studyrisk

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