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BioMed Research International
Volume 2015, Article ID 408096, 5 pages
Research Article

Association of the NOTCH4 Gene Polymorphism rs204993 with Schizophrenia in the Chinese Han Population

1College of Medicine & Forensic, Health Science Center, Xi’an Jiaotong University, Xi’an 710061, China
2Department of Food and Biological Engineering, Henan Industry & Trade Vocational College, Henan, Zhengzhou 451191, China
3Department of Thoracic Surgery, The First Affiliated Hospital, Xi’an Jiaotong University, Xi’an 710061, China
4Department of Stomatology, The First Affiliated Hospital, Xi’an Jiaotong University, Xi’an 710061, China

Received 14 July 2015; Accepted 17 September 2015

Academic Editor: Eberval G. Figueiredo

Copyright © 2015 Bao Zhang et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.


NOTCH4 regulates signaling pathways associated with neuronal maturation, a process involved in the development and patterning of the central nervous system. The NOTCH4 gene has also been identified as a possible susceptibility gene for schizophrenia (SCZ). The objective of this study was to examine the relationship between NOTCH4 polymorphisms and SCZ in the Chinese Han population. The rs2071287 and rs204993 polymorphisms of the NOTCH4 gene were analyzed in 443 patients with SCZ and 628 controls of Han Chinese descent. Single SNP allele-, genotype-, and gender-specific associations were analyzed using different models (i.e., additive, dominant, and recessive models). This association study revealed that the rs204993 polymorphism is significantly associated with susceptibility for SCZ and that the AA genotype of rs204993 is associated with a higher risk for SCZ (; OR = 1.460; 95% CI, 1.043–2.054). Our data are consistent with those obtained in previous studies that suggested that rs204993 is associated with SCZ and that the AA genotype of rs204993 demonstrates a higher risk. Further large-scale association analyses in Han Chinese populations are warranted.