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Genetic factors in bone turnover.

P J Kelly1, J L Hopper, G T Macaskill

  • 1Garvan Institute of Medical Research, St. Vincent's Hospital, Darlinghurst, NSW, Australia.

The Journal of Clinical Endocrinology and Metabolism
|April 1, 1991
PubMed
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Genetic factors strongly influence bone density by regulating bone formation, as indicated by serum osteocalcin levels. This study in female twins highlights genetic control over bone turnover mechanisms.

Area of Science:

  • Endocrinology
  • Genetics
  • Bone Biology

Background:

  • Bone mineral density is influenced by genetic factors, but the mechanisms are unclear.
  • Bone density results from the balance between bone formation and resorption.
  • Biochemical markers can assess bone turnover rates.

Purpose of the Study:

  • To investigate the genetic mediation of bone density by examining biochemical indices of bone formation and resorption.
  • To determine the heritability of serum osteocalcin, urinary calcium:creatinine, and hydroxyproline:creatinine ratios in adult female twins.

Main Methods:

  • Studied 39 monozygotic (MZ) and 31 dizygotic (DZ) adult female twin pairs.
  • Measured serum osteocalcin (bone formation marker).
  • Measured fasting urinary calcium:creatinine (Ca/Crt) and hydroxyproline:creatinine (OH/Crt) (resorption markers).

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Main Results:

  • Twin pair correlations for serum osteocalcin were significantly higher in MZ twins (r=0.81) than DZ twins (r=0.21), indicating strong genetic influence (80% variance).
  • In postmenopausal twins, serum osteocalcin also showed a significant genetic correlation (rMZ=0.84 vs. rDZ=-0.003).
  • Genetic effects on urinary Ca/Crt and OH/Crt were not demonstrable, possibly due to lower precision.

Conclusions:

  • Circulating osteocalcin, a marker of bone formation, is strongly genetically determined.
  • Genetic regulation of bone turnover, particularly bone formation, is a key mechanism underlying the genetic influence on bone mass.
  • Further research may clarify genetic contributions to bone resorption markers.