ABSTRACT
BACKGROUND: Recently the G-105A promoter polymorphism in SEPS1 has been shown to increase pro-inflammatory cytokine expression and, thus, to be correlated with various types of human cancers and diseases. AIMS: This study examined whether this functional polymorphism was related to the risks of several human diseases by performing a meta-analysis. SUBJECTS AND METHODS: This study identified all published studies in MEDLINE, Science Citation Index, the Cochrane Library, PubMed, Embase, Current Contents Index and three Chinese databases. RESULTS AND CONCLUSIONS: Eleven case-control studies were incorporated into this meta-analysis. The results showed that carriers of the rs28665122 G > A polymorphism in the SEPS1 gene are at increased risk of developing diseases under five genetic models. According to the ethnicity-stratified sub-group analysis, SEPS1 rs28665122 polymorphism is significantly linked to increased risk of developing related diseases in Europeans under five genetic models; but not among Asians. This data indicates a statistical association between SEPS1 rs28665122 G > A variants and the development of various human diseases. Such findings suggest that SEPS1 may be a potential gene marker for disease diagnosis and prognosis.