Evidence of major gene control of cortical bone loss in humans

David Karasik, Emil Ginsburg, Gregory Livshits, Oleg Pavlovsky, Eugene Kobyliansky

Research output: Contribution to journalArticlepeer-review

32 Scopus citations


Cortical index (CI) is the ratio of the combined cortical thickness to the total diameter of the bone. It serves for the assessment of the geometric properties of bone and for indirect evaluation of bone mass. CI is a useful predictor of osteoporosis. The aim of the present study was to test the hypothesis of major gene control of CI variation in a large sample of pedigrees from Chuvashia, Russia. Complex segregation analysis revealed that the major gene model of CI inheritance is the best fitting and most parsimonious for the present data. Parameters of the genotype-gender specific dependence of CI variation on age were estimated simultaneously with other parameters in the segregation analysis. The results of analysis showed that not only the baseline level of CI but also the age at onset of the involutive bone changes (inflection point) and the rate of the CI decrease with age (slope coefficient) are under control of the same major gene. Non-major gene effects shared by pedigree members (residual familial correlations) were found to be statistically insignificant. Approximately 73% of inter-individual variation in CI was attributable to the effects explicitly included in the model. (C) 2000 Wiley-Liss, Inc.

Original languageEnglish
Pages (from-to)410-421
Number of pages12
JournalGenetic Epidemiology
Issue number4
StatePublished - 2000
Externally publishedYes


  • Complex segregation analysis
  • Cortical index
  • Genetic modeling
  • Metacarpal bones
  • Osteoporosis


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