Supplementary Table 4.
The present study and genome-wide association studies in the ANTXR2-DMP1 region
| Chromosome | Neighboring | Related | P* | OR | Study | |||
|---|---|---|---|---|---|---|---|---|
| BP | SNP | Genes | A 1 | Disease/traits | ||||
| 4q21 | 88583135 | rs10019009 | DMP1 | A | AS | 3.6×10−4 | 0.78 | The current study |
| 4q21 | 81168853 | rs4333130 | ANTXR2 | G | AS | 9.3×10−8 | 0.82 | Australo–Anglo–American Spondyloarthritis Consortium (TASC) et al. 2010[1] |
| 4q21 | 81165499 | rs4389526 | ANTXR2 | A | AS | 9.4×10−8 | 1.21 | Evans et al. 2011[2] |
| 4q21 | 82149831 | rs710841 | BMP3 PRKG2 RASGEF1B |
A | Body height | 1.9×10−8 | – | Gudbjartsson et al. 2008[3] |
| 4q21 | 82150006 | rs788867 | PRKG2/BMP3 | T | Body height | 8.9×10−28 | – | Lango Allen et al. 2010[4] |
| 4q21 | 82165790 | rs994014 | PRKG2 | T | Body height | 7.8×10−10 | – | N’Diaye et al. 2011[5] |
| 4q21 | 88732692 | rs1054627 | IBSP | A | Bone density | 4.6×10−5 1.5×10−4 7.6×10−7 |
– – – |
Styrkarsdottir et al. 2009[6] Koller et al. 2010[7] Duncan et al. 2011[8] |
| 4q21 | 88775243 | rs1471403 | MEPE | T | Bone density | 1.5×10−8 | – | Rivadeneira et al. 2009[9] |
*P. Allelic test. The 4q21.1 region contains a cluster of structurally and phylogenetically related genes encoding matricellular phosphoglycoproteins that function in bone formation and growth. Genome–wide association studies for AS, body height, and bone density revealed evidence that ANTXR2 and BMP3, PRKG2, RASGEF1B and IBSP, and MEPE are linked in this chromosome region. OR: Odds ratio; ANTXR2–DMP1: Anthrax toxin receptor 2–Dentin matrix protein 1; SNP: Single nucleotide polymorphism; PRKG2: Protein kinase, cGMPdependent, type II; RASGEF1B: RasGEF domain family, member 1B; IBSP: Integrinbinding sialoprotein; MEPE: Matrix extracellular phosphoglycoprotein; BMP3: Bone morphogenetic protein 3.