Related Experiment Video
Updated: Feb 7, 2026

Enema of Traditional Chinese Medicine for Patients with Severe Acute Pancreatitis
Published on: January 27, 2023
VAX1 gene associated non-syndromic cleft lip with or without palate in Western Han Chinese
Bi-He Zhang1, Jia-Yu Shi2, Yan-Song Lin1
1State Key Laboratory of Oral Diseases & National Clinical Research Center for Oral Diseases & Dept. of Cleft Lip and Palate, West China Hospital of Stomatology, Sichuan University, China.
Objective:
Non-syndromic cleft lip with or without palate (NSCL/P) is one of the most common human birth defects, it results from multiple genetic and environmental risk factors. Recently, GWA studies identified associations between NSCL/P and two genetic risk loci, rs7078160 and rs4752028, at VAX1.
Design:
Currently, we tried to investigate the roles of the two loci among 302 NSCL/P trios (129 non-syndromic cleft lip only (NSCLO) trios and 173 non-syndromic cleft lip and cleft palate (NSCLP) trios) from Western Han Chinese. The two SNPs were genotyped by SNPscan method; Hardy-Weinberg equilibrium test, allelic TDT and parent-of-origin effect were performed by PLINK software, and genotypic TDT and haplotype by FBAT software.
Results:
Allelic TDT analysis revealed allele A at rs7078160 was over-transmitted among NSCL/P group (P = 0.0086, ORtransmission = 1.36, 95%CI: 1.08-1.72). Parent-of-origin effect analysis revealed a paternal special over-transmission of allele A at rs708260 in NSCL/P group (P = 0.0079). Haplotype AC of rs7078160-rs4752028 was significant over-transmitted in the NSCL/P group.
Conclusions:
Our study firstly confirmed that allele A at rs7078160 at VAX1 gene was a risk factor for NSCL/P in Western Han Chinese population.
Related Concept Videos
Western Blotting
The technique begins with separating proteins from the sample using sodium dodecyl sulfate-polyacrylamide gel electrophoresis (SDS-PAGE), followed by protein transfer, immunoblotting, and finally, protein detection.
Nephrotic Syndrome I : Introduction
Acute Coronary Syndrome I: Introduction
Gene Flow
Gene Families
Occasionally these regions can be adapted to take on new roles within the organism, becoming novel genes...
Gene Therapy

