Linkage and association of the CA repeat polymorphism of the IL6 gene, obesity-related phenotypes, and bone mineral density (BMD) in two independent Caucasian populations

Qing Yang Huang, Hui Shen, Hong Yi Deng, Theresa Conway, K. Michael Davies, Jin Long Li, Robert R. Recker, Hong Wen Deng

Research output: Contribution to journalArticle

28 Scopus citations


Genetic factors play an important role in osteoporosis and obesity, two serious public health problems in the world. We investigated the relationships between obesity-related phenotypes, bone mineral density (BMD) and the CA repeat polymorphism of the IL6 gene in two large independent samples using the quantitative transmission disequilibrium test (QTDT). The first sample consisted of 1,816 individuals from 79 multigenerational pedigrees. Each pedigree was identified through a proband with BMD Z-scores ≤ -1.28 at the hip or spine. The second sample was a randomly ascertained set of 636 individuals from 157 nuclear families. Ten alleles containing 9-18 CA repeats were identified in our Caucasian populations. For body mass index (BMI), fat mass and percentage fat mass (PFM), highly significant (P

Original languageEnglish (US)
Pages (from-to)430-437
Number of pages8
JournalJournal of Human Genetics
Issue number8
StatePublished - Oct 16 2003


All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)

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