Relationship Between Polymorphisms Of PLCE1 And C20orf54 And Histologic Grade Of Gastric Cardia Adenocarcinoma

Objective: To investigate relationship between the single-nucleotide polymorphisms (SNPs) of PLCE1 and C20orf54 and histologic grade (G) of gastric cardia adenocarcinoma (GCA). Reveal the relationship between C20orf54 gene expression in GCA with mRNA level , C20orf54 SNPs and phathogenesis of GCA.Methods: The genotypes of PLCE1 and C20orf54 SNPs, rs2274223 and rs13042395, in 519 GCA patients and 1000 healthy controls were detected by Illumina Human 610-Quad BeadChips, and there were 198 G1-2 samples and 321 G3 samples in 519 GCA. C20orf54 mRNA expression level of 60 examples between latero-cancer the normal tissues contrast to the cancer were detected by reverse transcription-polymerase chain reaction (RT-PCR), and the genotypes of C20orf54 (rs13042395) were detected by TAQMAN. Based on C20orf54 mRNA expression level, the patients were divided into two groups: those with high and low expression of C20orf54 mRNA. The C allele (C/T+C/C genptype) frequency of C20orf54 (rs13042395) and pathology differentiated degree of GCA were compared between the two growps.Results: The G allele (A/G+G/G genptype) frequency of PLCE1 (rs2274223) in GCA and controls were 29.6% (305/1032) and 22.4% (445/1990), respectively (χ~2=18.841, P=0.000, OR=1.457, 95%CI=1.229-1.727), and in G1-2 and G3 were 30.3% (120/396) and 29.1% (185/636) respectively (χ~2=0.173, P=0.677, OR=1.060, 95%CI=0.806-1.394). The C allele (C/T+C/C genptype) frequency of C20orf54 (rs13042395) in GCA and controls were 73.1% (754/1032) and 69% (1374/1990), respectively (χ~2=5.264, P=0.022, OR=1.216, 95%CI=1.029-1.437), and in G1-2 and G3 were 74.2% (294/396) and 72.3% (460/636), respectively (χ~2=0.455, P=0.500, OR=1.103, 95%CI=0.830-1.466). According the C20orf54 mRNA expression level, the C allele (C/T+C/C genptype) frequency of C20orf54 (rs13042395) in high expression group and low expression group were 68.3%(41/60) and 85%(51/60), respectively (χ~2=4.658,P=0.031,OR=0.381,95%CI=0.156-0.930).The incidence of G3 in high expression group and low expression group were 56.7% (17/30) and 66.7% (20/30), respectively (χ~2=0.635, P=0.426, OR=0.654, 95%CI=0.229-1.824). The mean expression of C20orf54 gene mRNA in lesion of GCA and contiguous normal mucosa were 0.64 (±0.11) and 0.72 (±0.13), respectively (P=0.091).Conclusion: PLCE1 and C20orf54 were associated with GCA susceptibility, two genes can be used to choose susceptible population of GCA. There were no evidence for SNPs of PLCE1 (rs2274223) and C20orf54 (rs13042395) were associated with pathology differentiated degree of GCA. The expression of C20orf54 mRNA was similar between lesion of GCA and contiguous normal mucosa.The low expression of C20orf54mRNA was significant related with the C allele frequency of C20orf54 (rs13042395), and wasn't related with pathology differentiated degree of GCA.