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Medical Science Monitor Basic Research


eISSN: 1643-3750

Association between Genetic Polymorphisms in DEFB1 and Susceptibility to Digestive Diseases

Yin-Peng Huang, Tian-Yi Wang, Wei Wang, Hong-Zhi Sun

Department of General Surgery, The First Affiliated Hospital of Liaoning Medical University, Jinzhou, Liaoning, China (mainland)

Med Sci Monit 2015; 21:2240-2250

DOI: 10.12659/MSM.893453

Available online:

Published: 2015-08-02


BACKGROUND: Aberrant expression of defensins is implicated in the pathogenesis of digestive diseases. However, the contribution of specific defensins and the influence of their genetic polymorphisms on the progression of digestive diseases remain controversial. In the present meta-analysis, we investigated the association between DEFB1 SNPs and the susceptibility to digestive diseases.
MATERIAL AND METHODS: Case-control studies that reported the correlation between DEFB1 SNPs and the susceptibility to digestive diseases were identified through electronic databases searches, and high-quality studies that satisfied our inclusion criteria were selected for this meta-analysis. Statistical analyses were performed utilizing STATA software version 12.0.
RESULTS: The present meta-analysis revealed that patients with digestive diseases exhibited higher frequencies of the DEFB1 genetic variants rs11362G>A, rs1800972C>G, and rs1799946G>A compared to healthy controls under the allele model. Subgroup analysis based on country showed that the rs1800972C>G variant under allele model and rs1799946G>A are associated with the susceptibility to digestive diseases in Hungarian and Italian populations, respectively. Subgroup analysis based on disease type showed that: (1) rs11362G>A variant was strongly associated with severe acute pancreatitis (SAP) and chronic gastritis, (2) frequency of rs1800972C>G variant was higher in SAP subgroup, and (3) frequency of rs1799946G>A variant was positively associated with the susceptibility to Crohn’s disease (CD) under the allele model and with SAP.
CONCLUSIONS: Our meta-analysis provides evidence that DEFB1 genetic polymorphisms rs11362G>A, rs1800972C>G and rs1799946G>A are important contributing factors to the development of digestive diseases.

Keywords: Digestive System Diseases - genetics, Case-Control Studies, Adult, Genetic Predisposition to Disease, Polymorphism, Genetic, beta-Defensins - genetics