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

作者：Guo, Qiang; Li, Dongmei; Meng, Xiangbiao; Liu, Tingting; Shi, Jinna; Hao, Yanru; Jiao, Xiaohui; Lv, Kewen; Hu, Tenglong; Song, Tao^*

来源：Medicine, 2017, 96(19): e6724.

DOI：10.1097/MD.0000000000006724

• nonsyndromic orofacial clefts
• NTN1 gene
• PAX7 gene
• single-nucleotide polymorphisms

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.

• 出版日期2017-5
• 单位哈尔滨医科大学