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 language | English |
|---|---|
| Pages (from-to) | 152-159 |
| Number of pages | 8 |
| Journal | Annals of Human Genetics |
| Volume | 71 |
| Issue number | 2 |
| DOIs | |
| State | Published - Mar 2007 |
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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 journal › Article
}
TY - JOUR
T1 - Epistatic interactions between genomic regions containing the COL1A1 gene and genes regulating osteoclast differentiation may influence femoral neck bone mineral density
AU - Yang, Tie Lin
AU - Shen, Hui
AU - Xiong, Dong Hai
AU - Xiao, Peng
AU - Guo, Yan
AU - Guo, Yan Fang
AU - Liu, Yao Zhong
AU - Recker, Robert R.
AU - Deng, Hong Wen
PY - 2007/3
Y1 - 2007/3
N2 - 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.
AB - 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.
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U2 - 10.1111/j.1469-1809.2006.00313.x
DO - 10.1111/j.1469-1809.2006.00313.x
M3 - Article
VL - 71
SP - 152
EP - 159
JO - Annals of Human Genetics
JF - Annals of Human Genetics
SN - 0003-4800
IS - 2
ER -