NTN1 gene was risk to NSCLO among Han Chinese Population

Abstract

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, 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 over‐transmitted 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 over‐transmitted 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 etiology of NSCLO.

Conclusions

Our study suggested allele G at rs4791774 in NTN1 gene is risk for NSCLO, which could greatly increase the risk to have a baby with cleft.

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