Further Evidence of GWAS Signals in Non-Syndromic Orofacial Clefts from Western Han Chinese
- Corresponding Author:
- Zhong-Lin Jia
PhD, State Key Laboratory of Oral Diseases
West China College of Stomatology, Sichuan University
No.14, 3rd Section, Renmin Nan Road, Chengdu, 610041, China
E-mail: [email protected]
Received Date: January 21, 2016; Accepted Date: February 19, 2016; Published Date: February 26, 2016
Citation: Shi-Jun D, Shi B, Shi J, Feng F, Jia ZL (2016) Further Evidence of GWAS Signals in Non-Syndromic Orofacial Clefts from Western Han Chinese. J Interdiscipl Med Dent Sci 4:189. doi:10.4172/2376-032X.1000189
Copyright: © 2016 Shi-Jun D, et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
Non-syndromic orofacial clefts (NSOCs) are the major human congenital defects with a complex etiology. Several candidate genes and environmental factors, and their interactions were assumed for the susceptibility to NSOCs. Previous GWAS have identified numerous susceptible loci from different populations. However, few loci have been replicated among Western Han Chinese yet. This study aimed to validate this findings in NSOCs from Western Han Chinese population.
We selected two SNPs (rs4147811 and rs481931) on 1p22 and recruited 440 case-parent trios with NSOCs for this study. The SNPs were genotyped by using SNPscan method. To evaluate the association, we performed transmission disequilibrium test (TDT), parent-of-origin effect and gene-gene interaction analysis.
Rs481931 G allele (Z=2.05, P=0.016) and G/G homozygotes (Z=2.62, P=0.009) were over-transmitted for NSCL/P. Rs4147811 C allele (Z=2.16, P=0.030) and C/C homozygotes (Z=2.29, P=0.020) were over-transmitted for NSCL/P. Rs481931 G allele was also paternal over-transmitted for NSCL/P (P=0.030) and maternal over-transmitted for NSCPO (P=0.036).
Our results confirmed the previous GWAS findings of these two SNPs in the etiology of NSOCs among Western Han Chinese.