NTN1 gene was risk to non‐syndromic cleft lip only among Han Chinese population.

Objective: Genome‐wide association studies (GWAS) found NTN1, NOG and the region between CREBBP and ADCY9 were risks to non‐syndromic cleft lip with or without cleft palate (NSCL/P). However, the association of single nucleotide polymorphisms (SNPs) in these genes with NSCL/P in Western China is unknown. Subjects and Methods: We selected seven SNPs in NTN1, NOG and between CREBBP and ADCY9, and then performed transmission disequilibrium test (TDT), parent‐of‐origin effect and sliding window haplotype analysis to test the associations among 302 NSCL/P case–parent trios from Western Han Chinese. Results: We found allele G at rs4791774 in NTN1 was significantly overtransmitted among non‐syndromic cleft lip only (NSCLO) (p = 0.0067, OR = 1.79, 95% CI: 1.17–2.74); rs4791774 and rs9915089 tightly linked with each other among NSCL/P (D′ = 0.87, r2 = 0.67) and haplotypes carrying the risk allele G at rs4791774 were always found to be overtransmitted from parents to cases. Motif analysis indicated that allele G at rs4791774 could greatly alter the affinity of Myc_disc7, so allele G at rs4791774 in NTN1 might modulate C‐MYC transcription to participate in the aetiology of NSCLO. Conclusions: Our study suggested allele G at rs4791774 in NTN1 gene is risk of NSCLO, which could greatly increase the risk to have a baby with cleft. [ABSTRACT FROM AUTHOR]