Purpose: Emerging published reports on the association between estrogen receptor 1 (ESR1) genetic variation and cancer susceptibility are inconsistent. This review and meta- analysis was performed to achieve a more precise evaluation of this relationship.
Methods: A literature search of PubMed database was conducted from the inception of this study through April 1st 2014. Crude odds ratios (ORs) with 95% confidence intervals (95% CIs) were calculated to assess the association.
Results: 87 studies were enrolled in this meta-analysis. The results indicated that PvuII (T>C) polymorphism was associated with an increased risk of hepatocellular carcinoma (HCC) and prostate cancer, in contrast with the decreased risk of gallbladder cancer. No significant association was found in Asian and Caucasian populations. Furthermore, XbaI (A>G) genetic variation was only associated with an increased risk of prostate cancer, but was not related with race. In addition, T594T (G>A) polymorphisms were significantly associated with an increased risk of cancer, especially in Asian populations.
Conclusions: This meta-analysis indicated that PvuII (T>C) genetic variation may be risk factor for HCC, prostate cancer and gallbladder cancer. Meanwhile, XbaI (A>G) polymorphism may be potential prognostic factor for prostate cancer. Furthermore, T594T (G>A) was closely related with cancer susceptibility, especially in Asian populations.