Association between PAX7 and NTN1 gene polymorphisms and nonsyndromic orofacial clefts in a northern Chinese population.

ABSTRACT: BACKGROUND:Nonsyndromic orofacial clefts (NSOC) are the most common orofacial congenital defect with a complex etiology. Genome-wide association studies have identified paired box protein 7 (PAX7) and netrin-1 (NTN1) as candidate susceptibility genes for NSOC in both European and Asian populations. Here, possible associations between single-nucleotide polymorphisms (SNPs) in or near PAX7 and NTN1 were investigated in relation to risk of NSOC in a northern Chinese population. METHODS:A total of 602 individuals with NSOC and 510 controls were recruited from northern China. Polymerase chain reaction-ligation detection reactions were used to analyze 4 SNPs (rs742071, rs6659735, rs766325, and rs4920520) of PAX7 and 2 SNPs (rs9904526 and rs9788972) of NTN1. Investigations of polymorphisms and risk of NSOC were conducted by using the PLINK software. RESULTS:NTN1 rs9788972 AG was found to be associated with an increased risk of NSOC compared to the GG homozygous genotype (OR?=?1.43, 95% CI?=?1.11-1.86, P?=?.006). When the multifactor dimensionality reduction method was applied, NTN1 rs9788972 still exhibited an increased risk for NSOC (P?=?.008). In contrast, SNPs in PAX7 were not associated with any increased risk of NSOC. CONCLUSION:NTN1 rs9788972 is identified as a risk locus for NSOC susceptibility in a northern Chinese population.

SUBMITTER: Guo Q 

PROVIDER: S-EPMC5428583 | biostudies-literature | 2017 May

REPOSITORIES: biostudies-literature