Association between phospholipase C epsilon gene (PLCE1) polymorphism and colorectal cancer risk in a Chinese population

Abstract

Objective: To investigate the association between a single nucleotide polymorphism rs2274223 (adenine [A] to guanine [G]) in the phospholipase C epsilon 1 (PLCE1) gene and susceptibility to colorectal cancer (CRC). Methods: The PLCE1 rs2274223 polymorphism was genotyped in patients with CRC and age-and sex-matched cancer-free control subjects from a Chinese population in a case-control study. PLCE1 mRNA levels in pair-matched tumour and adjacent noncancerous tissue were evaluated by real-time quantitative reverse transcription-polymerase chain reaction. Results: A total of 417 patients with CRC and 416 control subjects were enrolled in the study. The AG and GG genotypes of PLCE1 rs2274223 were associated with a significantly increased risk of CRC (for AG þ GG versus AA: adjusted odds ratio 1.52, 95% confidence interval 1.15, 2.00). PLCE1 mRNA levels were significantly lower in tumours than in adjacent noncancerous tissue. Lower levels of PLCE1 mRNA were observed in both AG and GG genotype carriers compared with the AA genotype carriers. Conclusions: These results indicate that the PLCE1 rs2274223 A > G change might reduce gene expression and that the variant G genotype might contribute to the increased risk of CRC.

Common Genetic Variants of PSCA, MUC1 and PLCE1 Genes are not Associated with Colorectal Cancer

“…A case-control research including 417 CRC patients and 416 controls reported that carriers of AG and GG genotypes had an increased risk for CRC. This study also showed that lower levels of PLCE1 mRNA were observed both in carriers of AG and GG genotypes (Wang et al, 2014). Similar results were obtained in a study by Li and colleagues which reported a sigificant association between rs2274223 and CRC (Li et al, 2012b).…”

“…Since different cancers may share common pathogenetic pathways (Bunney and Katan, 2006), we hypothesized that SNPs that have been implicated in other gastrointestinal carcinomas may also play a role in CRC development. To date, there are very few papers which have assessed this relationship in CRC patients (Li et al, 2012b;Smith et al, 2012;Wang et al, 2014). Furthermore, to our best knowledge this is the first report aimed at evaluating the role of rs4072037 and rs2274223 for CRC development in European population.…”

“…The studies conducted in Chinese population found that rs2274223 of PLCE1 gene was associated with CRC development (Li et al, 2012b;Wang et al, 2014). A case-control research including 417 CRC patients and 416 controls reported that carriers of AG and GG genotypes had an increased risk for CRC.…”

“…Currently, there are very few studies analyzing the association between these SNPs and CRC risks. Rs2274223 of PLCE1 gene was found to have protective effect against CRC development in Chinese population (Li et al, 2012c;Wang et al, 2014), but no significant associations were reported for rs4072037 and rs2294008 variants (Li et al, 2012c;Smith et al, 2012). Recent meta-analysis have confirmed the role of these SNPs for the development of different cancers (Hao et al, 2013;Umar et al, 2013;Zheng et al, 2013), outlining the need of studies on CRC patients.…”

The controversial role of phospholipase C epsilon (PLCε) in cancer development and progression

“…However, the study conducted by Ezgi et al (controls: n=210, colorectal tumor: n=200) clearly showed that rs2274223 SNP was associated with higher risk of colorectal cancer development in Turkish and Caucasian people 50. Interestingly, the study of Wang and coauthors demonstrated that rs2274223 A>G change might decrease level of PLCE1 expression and the variant G phenotype is associated with a high susceptibility to colorectal cancer in Chinese population (controls: n=416, colorectal tumor: n=417) 51. Later, Zhang et al performed a study of multiple PLCE1 SNPs for their potential correlation with a high risk of colorectal cancer development in Han Chinese population (controls: n=385, colorectal tumor: n=276).…”