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. 2020 Mar 31;56(4):153. doi: 10.3390/medicina56040153

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.