Further Evidence of GWAS Signals in Non-Syndromic Orofacial Clefts from Western Han Chinese | OMICS International | Abstract
ISSN: 2376-032X

JBR Journal of Interdisciplinary Medicine and Dental Science
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Research Article

Further Evidence of GWAS Signals in Non-Syndromic Orofacial Clefts from Western Han Chinese

Shi-Jun Duan1,2, Bing Shi1,2, Jia-Yu Shi3, Fan Feng4 and Zhong-Lin Jia1*

1State Key Laboratory of Oral Disease, West China College of Stomatology, Sichuan University, China

2Department of Cleft Lip and Palate Surgery, West China College of Stomatology, Sichuan University, China

3Division of Growth and Development and Section of Orthodontics, School of Dentistry, University of California, USA

4Air Force Dujiangyan Aviation Medicine Evaluation and Training Center, Dujiangyan, China

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
Tel: +86-02885503462
Fax: +86-02885502848
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.