| First Author | Ma L | Year | 2020 |
| Journal | J Cell Mol Med | Volume | 24 |
| Issue | 23 | Pages | 13669-13678 |
| PubMed ID | 33108691 | Mgi Jnum | J:313915 |
| Mgi Id | MGI:6801891 | Doi | 10.1111/jcmm.15878 |
| Citation | Ma L, et al. (2020) Identification of novel susceptibility loci for non-syndromic cleft lip with or without cleft palate. J Cell Mol Med 24(23):13669-13678 |
| abstractText | Although several genome-wide association studies (GWAS) of non-syndromic cleft lip with or without cleft palate (NSCL/P) have been reported, more novel association signals are remained to be exploited. Here, we performed an in-depth analysis of our previously published Chinese GWAS cohort study with replication in an extra dbGaP case-parent trios and another in-house Nanjing cohort, and finally identified five novel significant association signals (rs11119445: 3' of SERTAD4, P = 6.44 x 10(-14) ; rs227227 and rs12561877: intron of SYT14, P = 5.02 x 10(-13) and 2.80 x 10(-11) , respectively; rs643118: intron of TRAF3IP3, P = 4.45 x 10(-6) ; rs2095293: intron of NR6A1, P = 2.98 x 10(-5) ). The mean (standard deviation) of the weighted genetic risk score (wGRS) from these SNPs was 1.83 (0.65) for NSCL/P cases and 1.58 (0.68) for controls, respectively (P = 2.67 x 10(-16) ). Rs643118 was identified as a shared susceptible factor of NSCL/P among Asians and Europeans, while rs227227 may contribute to the risk of NSCL/P as well as NSCPO. In addition, sertad4 knockdown zebrafish models resulted in down-regulation of sox2 and caused oedema around the heart and mandibular deficiency, compared with control embryos. Taken together, this study has improved our understanding of the genetic susceptibility to NSCL/P and provided further clues to its aetiology in the Chinese population. |
