Epistatic interactions between genomic regions containing the COL1A1 gene and genes regulating osteoclast differentiation may influence femoral neck bone mineral density

Tie Lin Yang, Hui Shen, Dong Hai Xiong, Peng Xiao, Yan Guo, Yan Fang Guo, Yao Zhong Liu, Robert R. Recker, Hong Wen Deng

Research output: Contribution to journalArticle

4 Citations (Scopus)

Abstract

Bone mineral density (BMD) is a primary risk indicator of osteoporotic fractures, which are largely determined by the actions of multiple genes. Genetic linkage studies have seldom explored epistatic interaction of genes for BMD. To evaluate potential genetic interactions for BMD at the femoral neck (FN) we conducted a variance component linkage analysis, to test epistatic effects between the genomic region containing the COL1A1 (collagen type I alpha 1) gene and the genomic regions containing genes regulating osteoclast differentiation (e.g. TNFRSF11A encoding RANK (receptor for activation of nuclear factor kappa B), TNFSF11 encoding RANKL (RANK ligand), IL1A (interleukin-1 alpha), IL6 (interleukin-6), etc) in 3998 Caucasian subjects from 434 pedigrees. We detected significant epistatic interactions between the regions containing COL1A1 with IL6 (p = 0.004) and TNFRSF1B encoding TNFR2 (tumor necrosis factor receptor 2) (p = 0.003), respectively. In summary, we identified the epistatic effects on BMD between regions containing several prominent candidate genes. Our results suggested that the IL6 and TNFRSF1B genes may regulate FN BMD variation through interactions with the COL1A1 gene, which should be substantiated by other, or population-based, association studies.

Original languageEnglish
Pages (from-to)152-159
Number of pages8
JournalAnnals of Human Genetics
Volume71
Issue number2
DOIs
StatePublished - Mar 2007

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Femur Neck
Osteoclasts
Bone Density
Genes
Interleukin-6
Genetic Epistasis
Receptors, Tumor Necrosis Factor, Type II
RANK Ligand
Genetic Linkage
Osteoporotic Fractures
Interleukin-1alpha
NF-kappa B
Pedigree
Population

All Science Journal Classification (ASJC) codes

  • Genetics(clinical)
  • Genetics

Cite this

Epistatic interactions between genomic regions containing the COL1A1 gene and genes regulating osteoclast differentiation may influence femoral neck bone mineral density. / Yang, Tie Lin; Shen, Hui; Xiong, Dong Hai; Xiao, Peng; Guo, Yan; Guo, Yan Fang; Liu, Yao Zhong; Recker, Robert R.; Deng, Hong Wen.

In: Annals of Human Genetics, Vol. 71, No. 2, 03.2007, p. 152-159.

Research output: Contribution to journalArticle

Yang, Tie Lin ; Shen, Hui ; Xiong, Dong Hai ; Xiao, Peng ; Guo, Yan ; Guo, Yan Fang ; Liu, Yao Zhong ; Recker, Robert R. ; Deng, Hong Wen. / Epistatic interactions between genomic regions containing the COL1A1 gene and genes regulating osteoclast differentiation may influence femoral neck bone mineral density. In: Annals of Human Genetics. 2007 ; Vol. 71, No. 2. pp. 152-159.
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AU - Recker, Robert R.

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