Evidence for a major gene underlying bone size variation in the Chinese

Peng Yuan Liu, Yue Juan Qin, Robert R. Recker, Hong Wen Deng

Research output: Contribution to journalArticlepeer-review

23 Scopus citations


Osteoporosis is a major public health problem defined as a loss of bone strength, of which bone size is an important determinant. In the present study, familial correlation and segregation analyses for the spine and hip bone sizes were performed for the first time in a Chinese sample composed of 393 nuclear families with a total of 1,193 individuals. The results indicate a major gene of codominant inheritance for spine bone size; however, there is no evidence of a major gene influencing hip bone size. Significant familial residual effects are found for both traits, suggesting their polygenic inheritance. Heritability estimates (±SE) for spine and hip bone size were 0.62 (0.13) and 0.59 (0.12 , respectively. Sex and age differences in genotype-specific average bone size were observed. Compared with our previous study on bone mineral density (BMD) in the same population, this study suggests that genetic determination of bone size may be different from that of BMD, and thus studying bone size as one surrogate phenotype for osteoporotic fractures may be necessary.

Original languageEnglish (US)
Pages (from-to)68-77
Number of pages10
JournalAmerican Journal of Human Biology
Issue number1
StatePublished - Jan 2004
Externally publishedYes

ASJC Scopus subject areas

  • Anthropology
  • Genetics
  • Ecology, Evolution, Behavior and Systematics
  • Anatomy


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