Table 1.
Summary of the published genetic associations with DDH
| Study reference | Gene/loci | Chromosomal location | Study design | SNP variant | Phenotype | Study population(s) |
|---|---|---|---|---|---|---|
| Feldman et al. (2010) [51] | 17q21.31–17q22 | 17q21.31–17q22 | GWLA | – | DDH | American and Chinese |
| Mabuchi et al. (2006) [52] | 13q22 | 13q22 | GWLA | – | DDH | Japanese |
| Watson et al. (2015) [53] | UFSP | 4q35 | GWLA and exome sequencing | c.868T > C | Beukes hip dysplasia | South African |
| Feldman et al. (2013) [153] | CX3CR1 | 3p22.2 | GWLA and exome sequencing | rs3732378 | DDH | American |
| Basit et al. (2017) [154] | HSPG2 | p. Ala1110Ser | GWLA and exome sequencing | c.3328G > T | DDH | Saudi Arabian |
| Basit et al. (2017) [154] | ATP2B4 | p. Arg755Gln | GWLA and exome sequencing | c.2264G > A | DDH | Saudi Arabian |
| Dai et al. (2008) [155], and Hatzikotoulas et al. (2018) [49] | GDF5 | 20q11.22 |
CGAS GWAS and subsequent replication |
rs143383, rs143384 |
CDH DDH |
Chinese females United Kingdom |
| Wang et al. (2010) [156] | TBX4 | 17q23.2 | CGAS | rs374448 | DDH | Chinese |
| Shi et al. (2011) [157] | ASPN | 9q22.31 | CGAS | D-repeat polymorphism of ASPN | DDH | Chinese |
| Cengic et al. (2015) [158] | IL6 | 7p15.3 | CGAS | rs1800796 | DDH | Croatian |
| Cengic et al. (2015) [158] | TGFB1 | 19q13.2 | CGAS | rs1800470 | DDH | Croatian |
| Jia et al. (2012) [159] | PAPPA2 | 20q11.22 | CGAS | rs726252 | DDH | Chinese |
| Hao et al. (2014) [160] | HOXB9 | 17q21.32 | CGAS | rs2303486 | DDH | Chinese |
| Tian et al. (2012) [161] | HOXD9 | 2q31.1 | CGAS | rs711819 | DDH | Chinese females |
| Liu et al. (2014) [162] | DKK1 | 10q21.1 | CGAS | rs1569198 | DDH | Chinese |
| Zhao et al. (2013) [163] | COL1A1 | 17q21.33 | CGAS | rs113647555 | DDH | Chinese females |
| Sun et al. (2015) [164] | UQCC | 20q11.22 | GWAS | rs6060373 | DDH | Chinese |
GWLA genome-wide linkage analysis, CGAS candidate gene association study, GWAS genome-wide association study