Table 2.
Genes associated with DDH.
| Gene | Localization | Reference SNP | Study Design | Original Publication |
|---|---|---|---|---|
| ASPN | 9q22.31 | D repeat polymorphism | CGAS | Shi, D. et al., 2011 [47] |
| BMS1 | 10q11.21 | rs201298233 | WES | Zhu, L. et al., 2019 [45] |
| COL1A1 | 17q21.33 | rs113647555 | CGAS | Zhao, L et al., 2013 [54] |
| CX3CR1 | 3q22.2 | rs3732378 | GWLA | Feldman, G.J. et al., 2013 [42] |
| rs3732379 | GWLA | Basit, S. et al., 2018 [55] | ||
| DKK1 | 10q21.1 | rs1569198 | CGAS | Liu, S. et al., 2014 [56] |
| FRZB | 2q32.1 | rs288326 | GWAS | Evangelou E. et al., 2009 [57] |
| GDF5 | 20q11.22 | rs143383 | CGAS | Dai, J. et al., 2008 [58] |
| rs143384 | GWAS | Hatzikotoulas, K. et al., 2018 [49] | ||
| HOXB9 | 17q21.32 | rs2303486, rs8844 | CGAS | Hao, Z. et al., 2014 [59] |
| HOXD9 | 2q31.1 | rs711819 | CGAS | Tian, W. et al., 2012 [60] |
| IL-6 | 7p15.3 | rs1800796 | RFLP | Kolundžić, R. et al., 2011 [52] |
| PAPPA2 | 1q25.2 | rs726252 | CGAS | Jia, J. et al., 2012 [53] |
| TBX4 | 17q23.2 | rss3744448 | CGAS | Wang, K. et al., 2010 [61] |
| TENM3 | 4q34.3-q35.1 | rs183721398 | WES | Feldman, G.J. et al., 2019 [46] |
| TGFB1 | 19q13.2 | rs1800470 | RFLP | Kolundžić, R. et al., 2011 [52] |
| UQCC1 | 20q11.22 | rs6060373 | GWAS | Sun, Y. et al., 2015 [62] |
| WISP3 | 6q21 | rs1230345 | CGAS | Zhang, J. et al., 2018 [48] |
CGAS—Candidate gene association studies; WES—Whole-exome sequencing; GWLA—Genome-wide linkage analysis; GWAS—Genome-wide association analysis; RFLP—Restriction fragment length polymorphism.