Complex segregation analyses of bone mineral density in Chinese

P. Y. Lui, Y. J. Qin, Q. Zhou, R. R. Recker, Hong Wen Deng

Research output: Contribution to journalArticlepeer-review

18 Scopus citations


China has the largest population in the world; approximately 7% of the total population suffers from primary osteoporosis. Osteoporosis is mainly characterized by low bone mineral density (BMD). In the present study, familial correlation and segregation analyses for spine and hip BMDs have been undertaken for the first time in a Chinese sample composed of 401 nuclear families with a total of 1,260 individuals. The results indicate a major gene of additive inheritance for hip BMD, whereas there is no evidence of a major gene influencing spine BMD. Significant familial residual effects are found for both traits, and heritability estimates (±SE) for spine and hip BMDs are 0.807(0.099) and 0.897(0.101), respectively. Sex and age differences in genotype-specific average BMD are also observed. This study provides the first evidence quantifying the high degree of genetic determination of BMD variation in the Chinese.

Original languageEnglish (US)
Pages (from-to)154-164
Number of pages11
JournalAnnals of Human Genetics
Issue number2
StatePublished - Mar 2004
Externally publishedYes


  • Bone mineral density
  • Chinese population
  • Familial correlation
  • Major gene
  • Segregation analysis

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics


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