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Association of genetic polymorphisms of aldehyde dehydrogenase-2 with esophageal squamous cell dysplasia.

ABSTRACT: AIM:To demonstrate the possible associations between genetic polymorphisms of aldehyde dehydrogenase-2 (ALDH2) and esophageal squamous cell dysplasia (ESCD). METHODS:All participants came from an area of high incidence of esophageal cancer and underwent an endoscopic staining examination; biopsies were taken from a non-staining area of the mucosa and diagnosed by histopathology. Based on the examinations, the subjects were divided into the control group with normal esophageal squamous epithelial cells and the ESCD group. ALDH2 genotypes of 396 cases were determined including 184 ESCD cases and 212 controls. The odds ratio (OR) and 95% confidence intervals (95% CI) were calculated by binary logistic regression models. RESULTS:The distribution of ALDH2 genotypes showed significant differences between the two groups. The adjustment factors were gender and age in the logistic regression models. Compared with 2*2/2*2 genotype, 2*1/2*1 genotype was found to be a risk factor for ESCD, and the OR (95% CI) was 4.50 (2.21-9.19). There were significant correlations between ALDH2 genotypes and alcohol drinking/smoking/history of esophageal cancer. CONCLUSION:The ALDH2 polymorphism is significantly associated with ESCD.

SUBMITTER: Zhou YZ

PROVIDER: S-EPMC2904894 | biostudies-literature | 2010 Jul

REPOSITORIES: biostudies-literature

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Association of genetic polymorphisms of aldehyde dehydrogenase-2 with esophageal squamous cell dysplasia.

Zhou Ying-Zhi YZ Diao Yu-Tao YT Li Hao H Li Hui-Qing HQ Ma Qing Q Cui Jia J

World journal of gastroenterology 20100701 27

<h4>Aim</h4>To demonstrate the possible associations between genetic polymorphisms of aldehyde dehydrogenase-2 (ALDH2) and esophageal squamous cell dysplasia (ESCD).<h4>Methods</h4>All participants came from an area of high incidence of esophageal cancer and underwent an endoscopic staining examination; biopsies were taken from a non-staining area of the mucosa and diagnosed by histopathology. Based on the examinations, the subjects were divided into the control group with normal esophageal squa ...[more]

PMID: 20632450

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Project description:Esophageal squamous cell carcinoma (ESCC) is very common in China and is also one of the most common cancers worldwide. The purpose of this study was to examine the associations between genetic variants of various cancer-related genes and the risk of ESCC.In this study, we first examined the association between 18 potentially disruptive genetic variants of 17 genes, including alcohol dehydrogenase 4 (ADH4) and checkpoint kinase 2 (CHEK2), and ESCC risk in a Hangzhou population of 617 patients matched with 534 controls. Among the 18 single nucleotide polymorphisms (SNPs), two were validated in a Jinan population of 540 patients matched with 550 controls.Sixteen SNPs in 15 genes, including CHEK2, did not have significantly different allele frequency distributions between ESCC patients and control subjects. A significantly increased risk of developing ESCC was revealed in subjects with the AA genotype of rs3805322 (ADH4) compared with those with the AG or GG genotype by unconditional univariate logistic regression analysis. Using a dominant model, the CC genotype of rs4822983 (CHEK2) had a marginally significant protective effect compared to the CT and TT genotypes. The association of ESCC risk with these two SNPs (rs3805322 and rs4822983) was further validated in a Jinan case-control set. Individuals with the ADH4 rs3805322 AA or AG genotype had ORs of 1.10 (95% CI = 0.81-1.49, P < 0.001) or 1.86 (95% CI = 1.33-2.59, P = 0.559), respectively, for developing ESCC compared with individuals with the GG genotype. CHEK2 rs4822983 CC carriers showed a marginally significantly decreased ESCC risk compared with those carrying the CT and TT genotypes in the validation set (95% CI = 0.61-1.01, P = 0.064). However, no evidence of interaction existed between the two SNPs and smoking or drinking in the Jinan case-control set.In conclusion, this current study provides substantial evidence that genetic polymorphisms of rs3805322 in the ADH4 gene may be associated with an increased risk of developing ESCC in two Chinese Han populations. Future studies to address the biological function of this polymorphism in the development of ESCC are warranted.

Project description:BackgroundEsophageal squamous cell carcinoma (ESCC) is one of the most common malignancies with poor diagnosis. Esophageal squamous dysplasia (ESD) is considered as an immediate precancerous lesion of ESCC. Lack of biomarkers for discriminating ESCC and ESD from healthy subjects limits the early diagnosis and treatment of ESCC. Therefore, a serum metabolomic strategy was conducted to identify and validate potential metabolic markers for the screening of ESCC and ESD subjects.MethodsA total of 74 patients with ESCC, 72 patients with ESD, and 75 normal control (NC) subjects were enrolled in this study. Gas chromatography-mass spectrometry was used to acquire serum metabolic profiles. Pathway analysis was conducted to uncover the fluctuated metabolic pathways during ESCC. Multivariate analyses were used to screen and validate the biomarkers.ResultsESCC, ESD, and NC subjects revealed progressively altered metabolic profiles, in which amino acids globally increased, while fatty acids decreased in ESCCs compared with the control groups. Pathway analysis demonstrated the activated biosynthesis of amino acids and inhibited desaturation of saturated fatty acids. The panel constructed with propanoic acid, linoleic acid, glycerol-3-phosphate, and l-glutamine showed the area under the curve (AUC), sensitivity, and specificity of 0.817, 0.75, and 0.74, respectively, in the discrimination of ESCC/ESD patients from NC subjects. The panel constructed by propanoic acid, l-leucine, and hydroxyproline revealed the AUC, sensitivity, and specificity of 0.819, 0.76, and 0.72, respectively, in the discrimination of ESD from NC subjects. The combination of hypoxanthine, 2-ketoisocaproic acid, l-glutamate, and l-aspartate showed the AUC, sensitivity, and specificity of 0.818, 0.83, and 0.74, respectively, in the discrimination of ESCC patients from ESD subjects.ConclusionsOur study revealed the systematic landscape for metabolic alterations in sera of ESD and ESCC patients. The defined metabolite markers showed reasonable performance in the discrimination of ESCC and ESD patients, and may provide helpful reference for clinicians and biologists.

Dataset Information

Association of genetic polymorphisms of aldehyde dehydrogenase-2 with esophageal squamous cell dysplasia.

Publications

Association of genetic polymorphisms of aldehyde dehydrogenase-2 with esophageal squamous cell dysplasia.

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