Journal
CALCIFIED TISSUE INTERNATIONAL
Volume 77, Issue 4, Pages 205-211Publisher
SPRINGER
DOI: 10.1007/s00223-005-0056-1
Keywords
skeletal genetics; bone formation; osteoporosis risk factors; nonhuman primate model; bone Gla protein
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Funding
- NCRR NIH HHS [P51 RR013986, R01 RR008781, P51 RR013986-085941, P51 RR013986-076705] Funding Source: Medline
- NHLBI NIH HHS [P01 HL28972, R01 HL54141] Funding Source: Medline
- NIAMS NIH HHS [F32 AR049694-01A1, F32 AR049694, F32 AR049694-02] Funding Source: Medline
- NIMH NIH HHS [R01 MH59490] Funding Source: Medline
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Osteocalcin (OC), a serum marker of bone formation, in its intact form reflects osteoblast activity. It is of interest to clinicians and bone biologists due to easy measurability and potential utility as an identifier of those at risk for fracture and other complications associated with bone metabolism disorders. The only published linkage study in humans shows significant evidence for a quantitative trait locus (QTL) affecting OC levels on 16q. We used the baboon, a primate model for skeletal maintenance and turnover, to detect and quantify the effects of genes on serum OC levels and to localize chromosomal regions harboring the responsible loci. We assayed OC levels in 591 pedigreed animals, assessed OC heritability, and conducted a genomewide linkage scan for evidence of QTLs affecting this phenotype. Heritability in these baboons is 0.24. Suggestive linkage is evident with markers in a region homologous to human chromosome 16q. This first genomewide linkage scan in a nonhuman primate for QTLs affecting bone formation as reflected by OC levels provides cross-species replication of the QTL on chromosome 16q previously localized in humans. Given the concordance of results of the only two genome scans for this trait in two primate species, further studies of this region are warranted.
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