The relationship between the Filaggrin gene (FLG) rs2065955 polymorphism and susceptibility to Epstein-Barr virus (EBV)-associated gastric carcinoma (EBVaGC) and EBV-negative gastric carcinoma (EBVnGC) was investigated in Shandong Province, China. We detected the FLG rs2065955 genotype and allele distribution by using PCR and restriction fragment length polymorphism (RFLP) in 64 EBVaGC, 82 EBVnGC, and 111 normal control samples. Immunohistochemistry was used to detect the level of FLG protein in 35 EBVaGC and 51 EBVnGC tumor tissues. Compared with normal controls, the genotype CC and allele C of FLG rs2065955 showed higher frequency in EBVaGC and EBVnGC. There was no significant difference between EBVaGC and EBVnGC in allele distribution of FLG rs2065955, but the genotype CC was found more frequently in EBVaGC than in EBVnGC. The risk of developing either EBVaGC or EBVnGC in genotype CC was higher than in other genotypes. Furthermore, genotype CC of FLG rs2065955 may contribute more to the risk of developing EBVaGC than EBVnGC. There was no significant difference in the expression level of FLG protein between EBVaGC and EBVnGC. In conclusion, the FLG rs2065955 polymorphism was significantly related to gastric carcinoma. Allele C of FLG rs2065955 could be a risk factor for EBVaGC or EBVnGC, while genotype CC of FLG rs2065955 was especially associated with EBVaGC.
<b><i>Background:</i></b> Gene polymorphism rs1048369 of glypican-4 (GPC4) gene has been reported to be significantly different between Epstein-Barr virus (EBV)-associated gastric carcinoma (GC) and EBV-negative GC. However, little is known about the polymorphism in nasopharyngeal carcinoma (NPC), which is a malignant tumor with a high prevalence of EBV. <b><i>Objective:</i></b> The distribution of GPC4 polymorphism rs1048369 was investigated in NPC patients, especially in those with EBV infection. The association between the polymorphism of GPC4 and the susceptibility to EBV-positive and EBV-negative NPC was also explored. <b><i>Patients and Methods:</i></b> The GPC4 gene polymorphism rs1048369 was detected in 143 cases of EBV-positive NPC and in 19 cases of EBV-negative NPC using polymerase chain reaction. One hundred and seven peripheral blood samples from healthy individuals were also measured as a control group. <b><i>Results:</i></b> The difference in genotype CC between EBV-positive NPC patients and healthy individuals was significant (χ<sup>2</sup> = 15.273, <i>p</i> < 0.01). No significant difference was observed between EBV-positive and EBV-negative NPC cases. Between EBV-negative NPC cases and healthy individuals, there was no significant difference in GPC4 gene polymorphism in both genotypic and allelic frequencies. <b><i>Conclusions:</i></b> The GPC4 gene polymorphism is associated with susceptibility to EBV-positive NPC. The CC genotype of GPC4 may represent a risk factor for NPC in Northern China.
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