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Objective@#The aim of this study was to investigate the correlation between different genotypes of CYP2C19, ERCC2 and XRCC1 and clinical indexes of gastroesophageal reflux and hiatal hernia in Xinjiang.@*Methods@#The clinical data of 101 patients with gastroesophageal reflux and hiatal hernia clinically diagnosed by people′s hospital of Xinjiang Uygur Autonomous Region from January 2016 to December 2017 were prospectively studied, and Wilcoxon rank sum test was used to analyze the genotypes and relevant clinical indicators.@*Results@#There was statistically significant difference in the distance of hiatal hernia between patients with CYP2C19 containing A/A homozygous genotype and those with other two genotypes (A/G or G/G) (P<0.05), and there was statistically significant difference in intrabolus pressure (IBP) between patients with G/G homozygous genotype and those with A/G heterozygous genotype (P<0.05). Esophageal sphincter lower esophageal sphincter (LES) residual pressure, LES relaxation rate and percentage of invalid swallowing between patients with ERCC2 containing A/C heterozygous genotype and those with A/A homozygous genotype also has significant statistical difference (P<0.05). The more C contained in the genotype, the lower IBP maximum (on average), and this pattern has statistical significance (P<0.05); There was no statistical difference for all clinical indicators among different XRCC1 genotypes.@*Conclusions@#Different genotypes of CYP2C19 and ERCC2 are closely related to the clinical indexes of gastroesophageal reflux and hiatal hernia. CYP2C19 containing A/G or G/G genotype is correlated with gastroesophageal reflux disease (GERD) and the incidence of hiatal hernia. The population containing A/G and G/G genotypes of CYP2C19 may be with a high incidence of hiatal hernia. Homozygous G/G genotype may be a high risk factor for aggravating reflux esophagitis. A/C and C/C genotypes contained in ERCC2 genotype were correlated with the incidence of hiatal hernia. The more C bases contained in ERCC2 genotype, the greater the effect of reducing IBP, indicating that the more C bases contained in ERCC2 genotype may be negatively correlated with the prevalence of hiatal hernia.
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Objective The aim of this study was to investigate the correlation between different genotypes of CYP2C19,ERCC2 and XRCC1 and clinical indexes of gastroesophageal reflux and hiatal hernia in Xinjiang.Methods The clinical data of 101 patients with gastroesophageal reflux and hiatal hernia clinically diagnosed by people's hospital of Xinjiang Uygur Autonomous Region from January 2016 to December 2017 were prospectively studied,and Wilcoxon rank sum test was used to analyze the genotypes and relevant clinical indicators.Results There was statistically significant difference in the distance of hiatal hernia between patients with CYP2C19 containing A/A homozygous genotype and those with other two genotypes (A/G or G/G) (P ＜ 0.05),and there was statistically significant difference in intrabolus pressure (IBP) between patients with G/G homozygous genotype and those with A/G heterozygous genotype (P ＜0.05).Esophageal sphincter lower esophageal sphincter (LES) residual pressure,LES relaxation rate and percentage of invalid swallowing between patients with ERCC2 containing A/C heterozygous genotype and those with A/A homozygous genotype also has significant statistical difference (P ＜ 0.05).The more C contained in the genotype,the lower IBP maximum (on average),and this pattern has statistical significance (P ＜ 0.05);There was no statistical difference for all clinical indicators among different XRCC1 genotypes.Conclusions Different genotypes of CYP2C19 and ERCC2 are closely related to the clinical indexes of gastroesophageal reflux and hiatal hernia.CYP2C19 containing A/G or G/G genotype is correlated with gastroesophageal reflux disease (GERD) and the incidence of hiatal hernia.The population containing A/G and G/G genotypes of CYP2C19 may be with a high incidence of hiatal hernia.Homozygous G/G genotype may be a high risk factor for aggravating reflux esophagitis.A/C and C/C genotypes contained in ERCC2 genotype were correlated with the incidence of hiatal hernia.The more C bases contained in ERCC2 genotype,the greater the effect of reducing IBP,indicating that the more C bases contained in ERCC2 genotype may be negatively correlated with the prevalence of hiatal hernia.
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Objective This study was to determine the role of the Xeroderma pigmentosum group D (XPD) Asp312Asn polymorphism in predicting response to Oxaliplatin based chemotherapies and survival in patients with metastatic colorectal cancer.Methods This study enrolled a total of 106 patients treated with FOLFOX4 (n =72) or XELOX (n =34) regimen.The genotype of XPD Asp312Asn was analyzed by TaqMan probe based real-Time polymerase chain reaction (PCR).Logistic regression was used to predict the response to the treatments.Cox proportion hazards models and Kaplan-Meier method were applied to predict the survival.Results The effective rate of chemotherapy in 106 patients with colorectal cancer was 57.6％ (61/106).There was no significant difference in the distribution of G/G,G/A and A/A genotypes between the two groups (P ＞ 0.05).Multivariate survival analysis showed that the survival time of patients with A/A genotype,carcinoembryonic antigen (CEA) (＞5 ng/ml) and age (＞65 years) was relatively short,with statistical significance (P ＜ 0.05).Conclusions XPD Asp312Asn single nucleic acid polymorphism can be used as a predictor of survival in patients with metastatic colorectal cancer,but it is not associated with oxaliplatin sensitivity and needs further study.
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Objective To investigate the relationship between hOGG1 and XPD gene polymorphism and genetic susceptibility of gastric cancer.Methods This study was carried out in Dongying Shengli Petroleum Administration Bureau Hospital.Under the narrow band imaging(NBI) mode,the blood samples of a total of 98 gastric cancers and 80 controls without cancers were collected.Genetic polymorphisms of DNA repair genes were identified by polymerase chain reaction restriction fragment length polymorphism(PCR-RFLP),then its relationship with cancers was analyzed.Results Carrying 326Cys allele with the wine increased the risk of gastric cancer; Lys 751Gln genotype increased the susceptibility of the gastric cancers (OR =1.486,0.73 ～ 3.025).Conclusion Lys751 Gln genotype increases the risk of gastric cancer.
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Objective To investigate the predictive value of combined analysis on single nucleotide polymorphisms (SNPs) of X-ray cross-complementing1 ( XRCC1 ) gene 194 and 399 codon,xeroderma pigmentosum group D (XPD) gene 312 codon and glutathione S-transferase P1 (GSTP1) gene 105 codon in platinum based chemotherapy.Methods Direct sequencing was performed to detect XRCC1,XPD and GSTP1 genotypes in peripheral blood from 50 cancer patients receiving platinum-based chemotherapy.Genetic polymorphisms of these genes related to sensitivity of platinum were reviewed.Results Favorable genotypes were Arg/Trp and Trp/Trp in XRCC1 194 codon,Arg/Arg in XRCC1 399 codon,Asn/Asn in XPD 312 codon and Val/Val in GSTP1 105 codon.The response rate to chemotherapy was 57.1％,75.0％,60.9％,85.7％ and 87.5％,respectively.The response rate for patients possessing ≥2 favorable genotypes and those possessing 1 or 0 favorable genotype was 78.9％,36.4％ and 0,respectively.Patients possessing ≥2 favorable genotypes demonstrated higher sensitivity to platinum based chemotherapy,compared with those possessing 1 or 0 favorable genotype ( x2 =25.79,P ＜ 0.01 ).Conclusions Combination analysis of genomic polymorphisms of XRCC1,XPD and GSTP1 may be useful in predicting sensitivity of platinum based chemotherapy.