乌珠穆沁羊mtDNA的RFLP研究

用ＡｐａⅠ等７种识别６碱基的限制性内切酶研究了１４只乌珠穆沁羊ｍｔＤＮＡ的ＲＦＬＰ。结果表明，在所研究的个体中检测到３７个酶切位点，１７种限制性态型，其中ＢａｍＨⅠ和ＢｇｌⅠ表现出多态，ＸｈｏⅠ无切点。１７种限制性态型可归结为３种基因单倍型，即单倍型Ⅰ（ＢａｍＨⅠ－Ｃ，ＢｇｌⅠ－Ａ）、单倍型Ⅱ（ＢａｍＨⅠ－Ａ，ＢｇｌⅠ－Ａ）和单倍型Ⅲ（ＢａｍＨⅠ－Ｃ，ＢｇｌⅠ－Ｂ）。ｍｔＤＮＡ多态度π值为０．０２７％，表明乌珠穆沁羊ｍｔＤＮＡ多态性比较贫乏。

Association between MDM2-SNP309 and hepatocellular carcinoma in Taiwan Residents population

AIM:To investigate the risk association and compare the onset age of hepatocellular carcinoma(HCC) patients in Taiwan with different genotypes of MDM2- SNP309. METHODS:We analyzed MDM2-SNP309 genotypes from 58 patients with HCC and 138 cancer-free healthy controls consecutively.Genotyping of MDM2-SNP309 was conducted by restriction fragment length polymor- phism assay. RESULTS:The proportion of homozygous MDM2- SNP309 genotype(G/G)in cases and cancer-free healthy controls was similar(17.2%vs 16.7%).Multi-variate analysis showed that the risk of G/G genotypeof MDM2-SNP309 vs wild-type T/T genotype in patients with HCC was not significant(OR=1.265,95% CI=0.074-21.77)after adjustment for sex,hepatitis B or C virus infection,age,and cardiovascular disease/ diabetes.Nevertheless,there was a trend that GG genotype of MDM2-SNP309 might increase the risk in HCC patients infected with hepatitis virus(OR=2.568, 95%CI=0.054-121.69).Besides,the homozygous MDM2-SNP309 genotype did not exhibit a significantly earlier age of onset for HCC. CONCLUSION:Current data suggest that the asso- ciation between MDM2-SNP309 GG genotype and HCC is not significant,while the risk may be enhanced in patients infected by hepatitis virus in Taiwan.

Association between polymorphism rs6983267 and gastric cancer risk in Chinese population

AIM: To explore the association between single nucleotide polymorphisms (SNPs) at 8q24 and gastric cancer risk. METHODS: A case-control investigation including 212 gastric cancer patients and 377 healthy controls was conducted. The genotypes of SNPs (rs6983267, rs7008482 and rs10808555) were examined and established through polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). Multivariate logistic regression models were used to evaluate the association between SNPs and gastric cancer. RESULTS: The genotype frequencies of rs6983267 in gastric cancer patients were obviously different from those in the control (P = 0.005). GT genotype of rs6983267 was associated with an increased risk of gastric cancer compared with GG genotype (adjusted odds ratio = 2.01, 95% confidence interval: 1.28-3.14). Further stratified analysis indicated that rs6983267 GT genotype facilitated the risk of gastric cancer of non-cardiac and intestinal type (OR: 2.638, 95% CI: 1.464-4.753; OR: 1.916, 95% CI: 1.166-3.150, respectively). CONCLUSION: This study demonstrates for the first time that rs6983267 is involved in susceptibility to gastric cancer, although further large-sample investigations are still needed.

Viral Genotypes and Associated Risk Factors of Hepatocellular Carcinoma in India

Objective This study aims to investigate the etiological relationship among hepatitis B virus （HBV）, hepatitis C virus （HCV）, and alcohol as risk factors in a cohort of hepatocellular carcinoma （HCC） patients from India. The clinical and biochemical profiles and tumor characteristics in the HCC cases were also evaluated. Methods A total of 357 consecutive cases of HCC fulfilling the diagnostic criteria from the Barcelona-2000 EASL conference were included in the study. The blood samples were evaluated for serological evidence of HBV and HCV infection, viral load, and genotypes using serological tests, reverse transcription-polymerase chain reaction, and restriction fragment length polymorphism. Results The male/female ratio for the HCC cases was 5.87：1. Majority of the HCC patients （33.9%） were 50 to 59 years of age, with a mean age of 4±13.23 years. More than half the cases （60.8%） had underlying cirrhosis at presentation. Among the HCC patients, 68.9% were HBV related, 21.3% were HCV related, 18.8%, were alcoholic, and 18.2% were of cryptogenic origin. The presence of any marker positive for HBV increased the risk for developing HCC by almost 27 times [OR： 27.33; （12.87-60.0）]. An increased risk of 10.6 times was observed for HCC development for cases positive for ally HCV marker [OR： 10.55; （3.13-42.73）]. Heavy alcohol consumption along with HCV RNA positivity in cirrhotic patients was found to be a risk for developing HCC by 3 folds ]OR： 3.17; （0.37-70.71）]. Conclusions Patients of chronic HBV infection followed by chronic HCV infection were at higher risk of developing HCC in India. Chronic alcohol consumption was found to be a risk factor in cirrhotic cases only when it was associated with HCV RNA positivity. Most of the patients had a large tumor size （〉5 cm） with multiple liver nodules, indicating an advanced stage of the disease thus making curative therapies difficult.

Functional Variant of C-689T in the Peroxisome Proliferator-Activated Receptor-γ2 Promoter is Associated with Coronary Heart Disease in Chinese Nondiabetic Han People

Objective To investigate the association between the polymorphism of C-689T in the peroxisome proliferator-activated receptor-γ2 （PPARγ2） promoter and coronary heart disease （CHD）. Methods This case-controlled study was conducted in nondiabetic Chinese Han people, which enrolled 455 patients with CHD （cases） and 693 subjects without CHD （controls）. Data of clinical indexes were collected, including height, body weight, waist circumstance, systolic blood pressure （SBP）, diastolic blood pressure （DBP）, smoking, drinking, physical activity, as well as body mass index （BMI）. Fasting blood glucose （FBG）, plasma total cholesterol （TC） and triglyceride （TG） levels were measured. Polymerase chain reaction-restricted fragments length polymorphism （PCR-RFLP） was used to determine the PPARγ2 promoter C-689→T substitution. The genotype distribution of PPARγ2 promoter C-689T, allelic frequency, clinical indexes, and laboratorial measurements were compared between the two groups. The effect of genotype on the risk of CHD was assessed using univariate and multivariate regression model. Results The genotype frequencies of CC, CT and TT in PPARγ2 promoter C-689T were 89.7%, 9.9% and 0.4% in the case group, and 93.1%, 6.6% and 0.3% in the control group, respectively （CC vs. CT＋TT, χ^2= 6.243, P=0.041）. Carriers of -689T allele （n=95） had significantly higher TC level than non-carriers （n=1053） （5.12±1.26 vs. 4.76±1.22 mmol/L, P=0.001）. Male carriers of -689T allele （n=51） were significantly higher in waist circumference, body weight, TC and TG than male non-carriers （n=656） （all P〈0.05）. In subjects whose BMI was over 25 kg/m2, carriers of -689T allele （n=82） had significantly higher levels of waist circumference, BMI, SBP and TC than non-carriers （n=231） （all p〈0.05）. The -689T allele was an independent risk factor for CHD （OR=1.668, 95%CI： 1.031-2.705, P=0.037） after adjusting for age, gender, waist circumference, body weight, BMI, smoking, physical activities, SBP, DBP, FBG, TC and TG level. Conclusion These data support the hypothesis that the -689T allele is associated with an increased risk of CHD, in Chinese Han people and correlates significantly with the profiles of CHD-related risk factors.