Abstract
Genome-wide association studies have identified a susceptibility variation MUC1 rs4072037 for gastric cancer in Chinese population. Subsequent case-control studies have reported this association in other populations. However, the results remain controversial and ambiguous. The aim of this study is to provide a precise quantification for the association between MUC1 rs4072037 variation and the risk of cancer. We performed pooled analysis of 10 case-control designed studies including 4,220 cases and 6,384 controls. Odds ratios (OR) and 95% confidence interval (95%CI) were calculated to assess strength of association in overall studies and in subgroup analysis stratified by ethnicity and cancer types. All statistical analyses were performed by Manager 5.0 and Stata 12.0 software. Overall, the MUC1 rs4072037 polymorphism was associated with risk of cancer in all genetic models (G vs A: OR = 0.71, 95%CI: 0.63–0.80, p<0.01; GA vs AA: OR = 0.61, 95%CI:0.55–0.67, p<0.01; GG vs AA: OR = 0.58, 95%CI: 0.47–0.71, p<0.01; AG+AA vs GG: OR = 0.60, 95%CI: 0.55–0.60, p<0.01; GG vs AG+AA: OR = 0.70, 95%CI: 0.58–0.85, p<0.01). Further, subgroup analysis based on ethnicity suggested MUC1 rs4072037 polymorphism had a subtly reduced cancer risk among Asian population, and stratified analysis by cancer types showed significantly decreased risk of gastric cancer in all genetic models. In conclusion, MUC1 rs4072037 polymorphism may be used as potential biomarker for cancer susceptibility particularly for gastric cancer and for Asian population.
Highlights
Cancer is the leading cause of death in economically developed countries and the second leading cause of death in developing countries
Characteristics of the Studies Based on the search criteria and inclusion criteria, a total of 13 studies available from 10 articles for MUC1 rs4072037 polymorphism were investigated[13,14,15,16,17,18,19,20,21], the study selection process is shown in Figure 1, as summarized in Table 1, in which 3 studies [15,21] genotype of controls for a certain polymorphism were not consistent with Hardy-Weinberg equilibrium (HWE), were excluded from the analysis
Ethnic Asian G vs A AG vs AA GG vs AA AG+GG vs AA GG vs AG+AA Caucasian G vs A AG vs AA GG vs AA AG+GG vs AA GG vs AG+AA Cancer subtypes Gastric cancer G vs A AG vs AA GG vs AA AG+GG vs AA GG vs AG+AA Other cancers G vs A AG vs AA GG vs AA AG+GG vs AA GG vs AG+AA doi:10.1371/journal.pone.0095651.t003
Summary
Cancer is the leading cause of death in economically developed countries and the second leading cause of death in developing countries. The global burden of cancer continues to increase largely because of the aging and growth of the world population alongside an increasing adoption of cancer-causing behaviors [1]. A large number of association studies were carried out in different cancers, but only few convincing low penetrance susceptible loci have been identified until now [5]. Genome-wide association studies (GWAS) play important roles in the identification of potential candidates for single nucleotide polymorphisms (SNPs). In 2010, Abnet et al [6] conducted a GWAS on gastric cardia adenocarcinoma (GCA) and identified a statistically significant SNP of rs4072037 in mucin (MUC1) gene, which located at 1q22 is a synonymous SNP in the second exon of MUC1, pointing intricate role of MUC1 in malignancy
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