CYP2C19、ERCC2、XRCC1的不同基因型与新疆地区胃食管反流及食管裂孔疝疾病临床指标的关系

Correlation analysis between different genotypes of CYP2C19,ERCC2 and XRCC1 and pathological indexes of gastroesophageal reflux and hiatal hernia in Xinjiang

目的 探讨CYP2C19、ERCC2、XRCC1的不同基因型与新疆地区胃食管反流(GERD)及食管裂孔疝疾病临床指标的相关性。方法 前瞻性研究2016年1月至2017年12月,新疆维吾尔自治区人民医院临床确诊为胃食管反流及食管裂孔疝的101例患者的临床资料,并用Wilcoxon秩和检验方法对其所测基因型与相关临床指标进行统计分析。结果 CYP2C19含A/A纯合基因型与含其他两种基因型(G/A或G/G)患者的食管裂孔疝距离比较差异有统计学意义(P <0. 05),含G/G纯合型与含A/G杂合型患者的食团内部压力(IBP)比较差异有统计学意义(P <0. 05);ERCC2含A/C杂合型和A/A纯合型的患者的食管下括约肌(LES)残余压、LES松弛率、无效吞咽百分比比较差异有统计学意义(P <0. 05),该基因型中含有C越多的患者,IBP(平均最大值)越低,并且这种规律具有统计学意义(P <0. 05);XRCC1不同基因型间的所有临床指标差异均无统计学意义。结论 CYP2C19、ERCC2不同基因型与胃食管反流及食管裂孔疝疾病临床指标密切相关。CYP2C19含A/G或G/G基因型与GERD和食管裂孔疝的发病有相关性,CYP2C19含A/G和G/G基因型人群可能为食管裂孔疝的高发人群,G/G纯合基因型可能是加重反流性食管炎的高危因素;ERCC2含A/C、C/C基因型与食管裂孔疝的患病有相关性,ERCC2基因型中含C碱基越多对于减小IBP的作用越大,说明ERCC2基因型中含C碱基越多与食管裂孔疝的患病率可能呈负相关。

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.