Background: A common genetic variant rs3757318, located in intron of C6orf97, was firstly identified tobe associated with breast cancer (BC) risk by a genome-wide association (GWA) study. However, subsequentvalidation studies with different ethnicities have yielded conflicting results. Materials and
Methods: We performeda meta-analysis to synthesize all available data for evaluating the precise effect of this variant on BC susceptibility.
Results: A total of 8 articles containing 11 studies with 62,891 cases and 65,635 controls were included in thismeta-analysis. When compared to the G allele, the rs3757318-A allele was significantly associated with BCrisk with the pooled OR of 1.21 (95% CI=1.15 - 1.29, P<0.001) but with obvious between-study heterogeneity(P=0.040). Stratified analysis suggested that diversity of ethnicity along with control source may explain part ofthe heterogeneity. Similarly, significant associations were also identified in heterozygote, homozygote, dominantand recessive genetic models. Sensitivity and publication bias analyses indicated robust stability of our results.
Conclusions: Our present meta-analysis demonstrated that the variant rs3757318 is associated with increasedBC risk. Nevertheless, further studies are needed to clarify the underlying biological mechanisms.