Objectives: Non-syndromic cleft lip with or without cleft palate (NSCL ± P) is one of the most common birth malformations. Currently, numerous susceptibility SNPs have been reported by GWA studies, however, the replications of them among NSCL ± P from Han Chinese were very limited.
Design: In this study, we selected 16 SNPs around 1q32.2 based on the published GWA studies and replicated them among 302 trios with NSCL ± P from Han Chinese Population. The genotypic data was analyzed with FBAT, PLINK and R package.
Setting: The study was conducted in a tertiary medical center.
Patients, participants: 302 patients with CL ± P and their parents.
Main outcome measures: To ascertain the genetic variants in 1q32.2 in patients with CL ± P in Han Chinese Population.
Interventions: Blood samples were collected.
Results: We found T allele (Z = 4.26, p = 0.00002) and T/T homozygotes (Z = 4.4, p = 0.000011) at rs12063989 was significantly over-transmitted among non-syndromic cleft lip with or without cleft palate (NSCL ± P).
Conclusions: We found rs12063989 exhibited significant association with the occurrence of NSCL ± P, which would provide new evidence for the future study in the etiology of NSCL ± P.
Keywords: TDT; non-syndromic cleft lip with or without cleft palate; single nucleotide polymorphism.