biostudies-literature00380Unknown96(19)Guo Q<h4>Background</h4>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.<h4>Methods</h4>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.<h4>Results</h4>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.<h4>Conclusion</h4>NTN1 rs9788972 is identified as a risk locus for NSOC susceptibility in a northern Chinese population.Medicinee6724https://www.ebi.ac.uk/biostudies/studies/S-EPMC5428583biostudies-literatureAssociation between PAX7 and NTN1 gene polymorphisms and nonsyndromic orofacial clefts in a northern Chinese population.PMC5428583Lv KHu TLi DSong THao YLiu TShi JGuo QMeng XJiao X38falseAssociation between PAX7 and NTN1 gene polymorphisms and nonsyndromic orofacial clefts in a northern Chinese population.<h4>Background</h4>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.<h4>Methods</h4>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.<h4>Results</h4>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.<h4>Conclusion</h4>NTN1 rs9788972 is identified as a risk locus for NSOC susceptibility in a northern Chinese population.2017-01-01T00:00:00Z2017 May2024-10-19T10:25:52.643Z2019-03-27T02:43:23ZS-EPMC54285832848974910.1097/MD.000000000000672410.1097/md.0000000000006724