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GSTM1,GSTT1,GSTP1 and CYP1A1 genetic polymorphisms and susceptibility to esophageal cancer in a French population:Different pattern of squamous cell carcinoma and adenocarcinoma

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World Journal of Gastroenterology 2004年第23期10卷 3389-3393页

作者： Ahmed Abbas Karine Delvinquière Mathilde Lechevrel Pierre Lebailly Pascal Gauduchon Guy Launoy Fran ois Sichel GRECAN-EA1772 UFR des Sciences Pharmaceutiques Université de Caen Basse-Normandie et Centre Francois BaclesseAvenue du Général Harris14076 Caen cedex 05France GRECAN-EA1772 Université de Caen Basse-Normandie et Registre des Tumeurs Digestives du Calvados UFR de MédecineAvenue de la C te de Nacre14032 Caen cedexFrance

AIM:To evaluate the association between CYP1A1 and GSTs genetic polymorphisms and susceptibility to esophageal squamous cell carcinoma(SCC)and esophageal adenocarcinoma(ADC)in a high risk area of northwest of France. METHODS:A case-control study was conducted to investigate the genetic polymorphisms of these enzymes (CYPIAI*2C and GSTP1 exon 7 Val alleles,GSTMI*2/*2 and GSTTl *2/*2 null genotypes).A total of 79 esophageal cancer cases and 130 controls were recruited. RESULTS:GSTMI*2/*2 and CYPIAI*IA/*2C genotype frequencies were higher among squamous cell carcinomas at a level dose to statistical significance(OR =1.83,95% CI 0.88-3.83,P=0.11;OR=3.03,95% CI 0.93-9.90,P=0.07, respectively).For GSTP1 polymorphism,no difference was found between controls and cases,whatever their histological *** frequency of GSTT1 deletion was observed in ADC group compared to controls with a statistically significant difference(OR=13.31,95% CI 1.66-106.92,P<0.01). CONCLUSION:In SCC,our results are consistent with the strong association of this kind of tumour with tobacco *** ADC,our results suggest 3 distinct hypotheses: (1)activation of exogenous procarcinogens,such as small halogenated compounds by GSTT1;(2)contribution of GSTT1 to the inflammatory response of esophageal mucosa,which is known to be a strong risk factor for ADC, possibly through leukotriene synthesis;(3)higher sensitivity to the inflammatory process associated with intracellular depletion of glutathione.

关键词： Acyltransferases Adenocarcinoma Adult Aged Aged, 80 and over Carcinoma, Squamous Cell Case-Control Studies Cytochrome P-450 CYP1A1 Esophageal Neoplasms Female France genetic predisposition to disease Genotype Glutathione Transferase Humans Male Middle Aged Polymorphism, genetic Research Support, Non-U.S. Gov't Risk Factors

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Cytochrome P450 2E1 genetic polymorphism and gastric cancer in Changle,Fujian Province

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World Journal of Gastroenterology 2001年第6期7卷 792-795页

作者： Lin Cai~1 Shun-Zhang Yu~2 Zuo-Feng Zhang~3 1 Department of Epidemiology,Fujian Medical University,Fuzhou 350004,Fujian Province,China2 Department of Epidemiology,Shanghai Medical University,Shanghai 200032,China3 Department of Epidemiology,UCLA School of Public Health,Los Angeles California,USA Department of Epidemiology Fujian Medical University Fuzhou 350004 Fujian Province China. zjcailin@***

AIM: genetic polymorphism in enzymes of carcinogen metabolism has been found to have the influence on the susceptibility to cancer. Cytochrome P450 2E1 (CYP2E1) is considered to play an important role in the metabolic activation of procarcinogens such as N-nitrosoamines and low molecular weight organic compounds. The purpose of this study is to determine whether CYP450 2E1 polymorphisms are associated with risks of gastric cancer. METHODS: We conducted a population based case-control study in Changle county, Fujian Province, a high-risk region of gastric cancer in China. Ninety-one incident gastric cancer patients and ninety-four healthy controls were included in our study. Datas including demographic characteristics, diet intake, and alcohol and tobacco consumption of individuals in our study were completed by a standardized ***-RFLP revealed three genotypes:heterozygote (C1/C2) and two homozygotes (C1/C1 and C2/C2) in CYP2E1. RESULTS: The frequency of variant genotypes (C1/C2 and C2/C2) in gastric cancer cases and controls was 36.3% and 24.5%, respectively. The rare homozygous C2/C2 genotype was found in 6 individuals in gastric cancer group(6.6%), whereas there was only one in the control group (1.1%). However, there was no statistically significant difference between the two groups (two-tailed Fisher's exact test P=0.066). Individuals in gastric cancer group were more likely to carry genotype C1/C2 (odds ratio, OR=1.50) and C2/C2 (OR=7.34) than individuals in control group (chi(2) =4.597, for trend P=0.032). The frequencies of genotypes with the C2 allele (C1/C2 and C2/C2 genotypes) were compared with those of genotypes without C2 allele (C1/C1 genotype) among individuals in gastric cancer group and control group according to the pattern of gastric cancer risk factors. The results show that individuals who exposed to these gastric cancer risk factors and carry the C2 allele seemed to have a higher risk of developing gastric cancer. CONCLUSION: Poly

关键词： Polymorphism, genetic Aged Asian Continental Ancestry Group Case-Control Studies China Cytochrome P-450 CYP2E1 Female Gene Frequency genetic predisposition to disease Humans Male Middle Aged Research Support, Non-U.S. Gov't Stomach Neoplasms

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Region 2 of 8q24 is associated with the risk of aggressive prostate cancer in Caribbean men of African descent from Guadeloupe （French West Indies）

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Asian Journal of Andrology 2015年第1期17卷 117-119,I0010页

作者： Geraldine Cancel-Tassin Marc Romana Cecile Gaffory Pascal Blanchet Olivier Cussenot Luc Multigner CeRePP Pitie-Salpetriere Hospital Paris 75013 France ER2 UPMC Univ Paris 6 Paris 75020 France 3U665 Inserm Pointe a Pitre 97159 Guadeloupe French West Indies Department of Urology Assistance Publique Hopitaux de Paris Tenon Hospital GHU Est Paris 75020 France U1085 - IRSET Inserm Pointe Pitre 97154 Guadeloupe French West Indies Department of Urology CHU Pointe--Pitre/Abymes Pointe Pitre 97159 Guadeloupe French West Indies.

Multiple regions of the genome have been associated with the risk of prostate cancer in Caucasians, particularly including several polymorphisms located at 8q24. Region 2 of 8q24 has been repeatedly found to be associated with the risk of prostate cancer among men of African descent, although one study performed in the Caribbean island of Jamaica did not report this finding. In this study, the single nucleotide polymorphism rs16901979, located in region 2 of 8q24, was genotyped in 498 cases of histologically confirmed prostate cancer and 541 controls from the French Caribbean islands of Guadeloupe, where the population is largely of African descent. The AA genotype and the A allele at rs16901979 were associated with elevated risks of prostate cancer （odds ratios [ORs] = 1.84, 95% confidence interval [95% CI] = 1.26-2.69, P= 0.002 and OR = 1.36, 95% CI = 1.13-1.64, P= 0.001, respectively）. Following stratification of the patients by disease aggressiveness, as defined by the Gleason score, the pooled genotypes AC ＋ AA were associated with a higher risk of a Gleasen score 〉7 at diagnosis （OR = 1.79, 95% CI = 1.17-2.73, P= 0.007）. In summary, the A allele at rs16901979 was associated with the risk of prostate cancer in the Caribbean population of Guadeloupe, confirming its involvement in populations of African descent. Moreover, our study provides the first evidence of an association between this variant and the risk of aggressive prostate cancer.

关键词： African Continental Ancestry Group aggressiveness Caribbean region genetic predisposition to disease prostaticneoplasms

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Glutathione S-transferases M1,T1 genotypes and the risk of gastric cancer:A case-control study

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World Journal of Gastroenterology 2001年第4期7卷 506-509页

作者： Lin Cai Shun-Zhang Yu Zuo-Feng Zhang Department of Epidemiology.Fujian Medical University,Fuzhou 350004,Fujian Province,ChinaDepartment of Epidemiology,Shanghai Medical University,Shanghai 200032,China Department of Epidemiology,UCLA School of Public Health,Los Angeles California,USA Department of Epidemiology Fujian Medical University Fuzhou 350004 Fujian Province China. zjcailin@***

AIM: Glutathione S-transferases (GSTs) are involved in the detoxification of many potential carcinogens and appear to play a critical role in the protection from the effects of carcinogens. The contribution of glutathione S-transferases M1 and T1 genotypes to susceptibility to the risk of gastric cancer and their interaction with cigarette smoking are still unclear. The aim of this study was to determine whether there was any relationship between genetic polymorphisms of GSTT1 and GSTT1 and gastric cancer. METHODS: A population based case-control study was carried out in a high-risk area, Changle County, Fujian Province, China. The epidemiological data were collected by a standard questionnaire and blood samples were obtained from 95 incidence gastric cancer cases and 94 healthy controls. A polymerase chain reaction method was used to detect the presence or absence of the GSTT1 and GSTT1 genes in genomic DNA. Logistic regression model was employed in the data analysis. RESULTS: An increase in risk for gastric cancer was found among carriers of GSTT1 null genotype. The adjusted odds ratio (OR) was 2.63 95% Confidence Interval (95% CI) 1.17-5.88, after controlling for age, gender, cigarette smoking, alcohol drinking, and fish sauce intake. The frequency of GSTT1 null genotype in cancer cases (43.16%) was not significantly different from that in controls (50.00%). However, the risk for gastric cancer in those with GSTT1 null and GSTT1 non-null genotype was significantly higher than in those with both GSTT1 and GSTT1 non-null genotype (OR = 2.77, 95% CI 1.15-6.77). Compared with those subjects who never smoked and had normal GSTT1 genotype, ORs were 1.60 (95% CI:0.62-4.19) for never smokers with GSTT1 null type, 2.33 (95% CI 0.88-6.28) for smokers with normal GSTT1, and 8.06 (95% CI 2.83-23.67) for smokers with GSTT1 null type. CONCLUSIONS: GSTT1 gene polymorphisms may be associated with genetic susceptibility of stomach cancer and may modulate tobacco-related carcinoge

关键词： Adult Aged Case-Control Studies Female genetic predisposition to disease Genotype Glutathione Transferase Humans Male Middle Aged Polymorphism, genetic Research Support, Non-U.S. Gov't Risk Factors Smoking Stomach Neoplasms

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Relationship between ABO blood groups and carcinoma of esophagus and cardia in Chaoshan inhabitants of China

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World Journal of Gastroenterology 2001年第5期7卷 657-661页

作者： Min Su~1 Shan-Ming Lu~1 Dong-Ping Tian~1 Hu Zhao~1 Xiao-Yun Li~2 De-Rui Li~3 Zhi-Chao Zheng~4 1 Department of Pathology,2 Tumor Hospital,3,4 Second Teaching Hospital,Shantou University Medical College,Shantou 515031,China Department of Pathology Shantou University Medical College Shantou 515031China. minsu@***

AIM:To study the relationship between ABO blood groups and carcinoma of esophagus and cardia in Chaoshan inhabitants of China, which is a unique Littoral high-risk area of esophageal carcinoma in China. The poor communication and transportation in the past has made Chaoshan a relatively closed area and kept its culture and custure of old China thousand years ago. METHODS: Data on age, sex, ABO blood type and X-ray or pathological diagnose of the patients with carcinoma of esophagus or cardia were collected from the Tumor Hospital. First Affiliated Hospital, Second Affiliated Hospital of Shantou University Medical College; and the Central Hospital of Shantou and the Central Hospital of Jieyang. A total of 6685 patients with esophageal carcinoma (EC) and 2955 patients with cardiac cancer (CC) in Chaoshan district were retrospectively assessed for their association with ABO blood groups. RESULTS: The distribution of ABO blood groups in patients with EC or CC was similar to the normal local population in Chaoshan. However, blood group B in male patients with CC and in the patients with carcinoma in the upper third esophagus was 2.3% and 4.7% higher than the corresponding controls. The relative risk B O was 1.1415 (P<0.05) and 1.2696 (P<0.05), respectively. No relationship was found between ABO blood groups and tumor differentiation. CONCLUSION: ABO blood group B is associated with the incidence of CC in male individuals and carcinoma in the upper third esophagus. The distribution of ABO blood groups varies in the different geographical and ethnic groups. As a result, proper controls are very important for such studies.

关键词： ABO Blood-Group System Cardia China Esophageal Neoplasms Female Gene Frequency genetic predisposition to disease Humans Male Research Support, Non-U.S. Gov't Retrospective Studies Risk Factors Sex Distribution Stomach Neoplasms

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Pancreatic ductal adenocarcinoma: Risk factors, screening, and early detection

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World Journal of Gastroenterology 2014年第32期20卷 11182-11198页

作者： Andrew E Becker Yasmin G Hernandez Harold Frucht Aimee L Lucas Henry D. Janowitz Division of Gastroenterology Icahn School of Medicine at Mount Sinai New York NY 10029 United States Division of Digestive and Liver diseases Columbia University College New York NY 10032 United States

Pancreatic cancer is the fourth most common cause of cancer-related deaths in the United States, with over 38000 deaths in 2013. The opportunity to detect pancreatic cancer while it is still curable is dependent on our ability to identify and screen high-risk populations before their symptoms arise. Risk factors for developing pancreatic cancer include multiple genetic syndromes as well as modifiable risk factors. genetic conditions include hereditary breast and ovarian cancer syndrome, Lynch Syndrome, familial adenomatous polyposis, Peutz-Jeghers Syndrome, familial atypical multiple mole melanoma syndrome, hereditary pancreatitis, cystic fibrosis, and ataxia-telangiectasia; having a genetic predisposition can raise the risk of developing pancreatic cancer up to 132-fold over the general population. Modifiable risk factors, which include tobacco exposure, alcohol use, chronic pancreatitis, diet, obesity, diabetes mellitus, as well as certain abdominal surgeries and infections, have also been shown to increase the risk of pancreatic cancer development. Several largevolume centers have initiated such screening protocols, and consensus-based guidelines for screening high-riskgroups have recently been published. The focus of this review will be both the genetic and modifiable risk factors implicated in pancreatic cancer, as well as a review of screening strategies and their diagnostic yields.

关键词： Pancreatic neoplasms Pancreas cancer screening genetic predisposition to disease Hereditary breast and ovarian cancer syndrome Lynch syndrome Peutz-Jeghers BRCA PALB2 p16 Pancreatitis

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Influence of functional polymorphism in MIF promoter on sudden cardiac death in Chinese populations

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Forensic Sciences Research 2017年第3期2卷 152-157页

作者： Zhixia Yin Qing Zhang Wei Zhou Shouyu Wang Chaoqun Wang Yan He Lijuan Li Yuzhen Gao Department of Forensic Medicine Medical College of Soochow UniversitySuzhouChina Department of Epidemiology Medical College of Soochow UniversitySuzhouChina

Sudden cardiac death(SCD)is defined as an unexpected natural death without any obvious non-cardiac causes that occurs within 1 h with witnessed symptom onset or within 24 h without witnessed symptom *** studies conducted during the past decade have markedly illuminated the genetic basis of the cardiac disorders associated with *** migration inhibitory factor(MIF)is an upstream immunoregulatory cytokine associated with the pathogenesis of many inflammatory diseases including atherosclerosis and myocardial *** studies have reported that the functional -794(CATT)_(5-8) polymorphism in MIF is unrelated to sudden infant deth syndrome ***,there are no reports concerning the association between the polymorphism and adult SCD *** the current study,we investigated the association between the-794(CATT)_(5-8) polymorphism and adult SCD susceptibility using 79 adult SCD cases and 313 healthy *** samples were analysed using a conventional polymerase chain reaction(PCR)*** found that CATT_(6) and 5-6 were the most common allele and genotype in both groups,respectively,while no significant association was found between the-794(CATT)_(5-8) polymorphism and SCD *** also summarized the allele frequencies of 794(CATT)_(5-8) in cohorts of healthy people from different countries and found that the allele frequency distributions of the polymorphism in Chinese populations were quite different from that of American and European populations(P=0.005,P=0.0001,respectively),but similar to Japanese populations(P=0.827).In conclusion,this study indicates that the-794(CATT)_(5-8) polymorphism may not be associated with adult SCD susceptibility in Chinese *** allele frequency distributions of the polymorphism in multiple populations may provide a useful reference for further genetic association studies.

关键词： Forensic science forensic pathology death,sudden,cardiac genetic predisposition to disease macrophage migration inhibitory factor ¡794(CATT)5–8 polymorphism genetic susceptibility

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Serum 25-hydroxyvitamin D,genetic susceptibility,and the risk of incident type 2 diabetes:A prospective cohort in East China

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Chinese Medical Journal 2024年第8期137卷 972-979页

作者： Ying Sun Haojie Zhang Bin Wang Yuying Wang Chi Chen Yi Chen Yingli Lu Ningjian Wang Institute and Department of Endocrinology and Metabolism Shanghai Ninth People’s HospitalShanghai JiaoTong University School of MedicineShanghai 200011China Department of Endocrinology and Metabolism and Department of Guideline and Rapid Recommendation Cochrane China CenterMAGIC China CenterChinese Evidence-Based Medicine CenterWest China HospitalSichuan UniversityChengduSichuan 610041China Department of Endocrinology Shuguang Hospital Affiliated to Shanghai University of Traditional Chinese MedicineShanghai 201203China

Background:The serum vitamin D level varies widely by population,and studies have linked vitamin D levels with the risk of type 2 diabetes mellitus(T2DM).However,the relationship is inconsistent and the impact of vitamin D on T2DM among East Chinese adults is *** study aimed to investigate the association between serum 25-hydroxyvitamin D(25[OH]D)levels and the risk of T2DM and evaluated whether the association is modified by genetic ***:In the Survey on Prevalence in East China for Metabolic diseases and Risk Factors(SPECT-China)cohort,1862 participants free of T2DM at baseline were included.A weighted genetic risk score was calculated with 28 variants associated with *** logistic models were used to examine the association of serum 25(OH)D and genetic risk with ***:After a 5-year follow-up,132 cases of T2DM were *** observed no significant association between quartiles of serum 25(OH)D and T2DM risk after multivariable adjustment(χ^(2)=0.571,P_(for trend)=0.426).Compared to those in the lowest quartile of 25(OH)D,the odds ratios(ORs)(95%confidence interval[CI])for participants with increased quartiles were 1.29(0.74-2.25),1.35(0.77-2.36),and 1.27(0.72-2.24),*** observed a positive association of glycated hemoglobin(HbA1c)with 25(OH)D at baseline(β=1.752,P=0.001)and after follow-up(β=1.385,P=0.003),and a negative association of ln conversion homeostasis model assessment(HOMA)-βwith 25(OH)D at baseline(β=-0.982,P=0.021).There was no significant interaction between 25(OH)D and diabetes genetic predisposition on the risk of T2DM(χ^(2)=2.710,P_(for interaction)=0.100).The lowest OR(95%CI)of T2DM was among participants with low genetic risk and the highest quartile of 25(OH)D(0.17[0.05-0.62]).Conclusion:Serum 25(OH)D may be irrelevant to the risk of incident T2DM among East Chinese adults regardless of genetic predisposition.

关键词： Vitamin D Diabetes mellitus,Type 2 genetic predisposition to disease Prospective cohort Glycated hemoglobin SPECT-China

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Differences between hepatic and biliary lipid metabolism and secretion in genetically gallstone-susceptible and gallstone-resistant mice

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Chinese Medical Journal 2002年第9期115卷 1292-1295,143页

作者：许国强赵力 Michael Fuchs 浙江大学医学院附属第一医院消化科杭州310003 浙江大学医学院附属第一医院心内科杭州310003 Department of Medicine

OBJECTIVE: To investigate differences between hepatic and biliary lipid metabolism and secretion of genetically gallstone-susceptible (C57L) and resistant (AKR) mice and the mechanism of cholesterol gallstone formation. METHODS: The inbred C57L and AKR mice were fed a lithogenic diet containing 15% fat, 1.25% cholesterol and 0.5% cholic acid for four weeks. Hepatic cholesterol content and secretion rates of biliary lipids, as well as phenotypes of the liver and gallbladder were determined and examined before and after the feeding of the lithogenic diet. RESULTS: Both before and after ingestion of the lithogenic diet, hepatic secretion rates of all biliary lipids in C57L mice were markedly higher than that of AKR mice (P

关键词： genetic predisposition to disease Lipid Metabolism Animals Bile Cholelithiasis Cholesterol Fatty Liver Liver Male Mice Mice, Inbred AKR Mice, Inbred C57BL Research Support, Non-U.S. Gov't

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genetic variation of low-density lipoprotein-cholesterol and its clinical implications

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Chinese Medical Journal 2005年第5期118卷 355-359页

作者： Tsung O. Cheng George Washington University Medical Center Washington D. C. 20037 USA

Plasma lipids are controlled by genes and play an important role in the development of atherosclerosis. Dysplipidemia is an important risk factor for coronary artery disease (CAD). Coronary artery disease is the leading cause of mortality and morbidity in the developed world. More than 14 million Americans are afflicted with clinically significant CAD.~1 To illustrate the impact of CAD in developed countries, the medical and societal costs of CAD in the United States alone are in excess of $90 billion annually.~1 More than (600 000) Americans each year develop new cardiac events, more than 10% of which occur in Americans (genetic predisposition to early onset of CAD could help in understanding basic disease mechanism, guiding targeted preventive efforts, and planning appropriate therapeutic strategies.

关键词： Variation (genetics) Apolipoproteins E Cholesterol 7-alpha-Hydroxylase Coronary disease genetic predisposition to disease Humans Lipoproteins, LDL Cholesterol Polymorphism, genetic

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