Identification of novel susceptibility loci for non-syndromic cleft lip with or without cleft palate.

ABSTRACT: 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 × 10^-14 ; rs227227 and rs12561877: intron of SYT14, P = 5.02 × 10^-13 and 2.80 × 10^-11 , respectively; rs643118: intron of TRAF3IP3, P = 4.45 × 10^-6 ; rs2095293: intron of NR6A1, P = 2.98 × 10^-5 ). The mean (standard deviation) of the weighted genetic risk

SUBMITTER: Ma L 

PROVIDER: S-EPMC7754035 | biostudies-literature | 2020 Dec

REPOSITORIES: biostudies-literature