Relationship between single nucleotide polymorphisms and its haplotype of X-ray repair cross complementing group 1 and susceptibility of pancreatic carcinoma / 中华肿瘤杂志

<p><b>OBJECTIVE</b>The aim of this study was to evaluate the effects of XRCCl gene polymorphisms and its haplotype on the susceptibility of pancreatic carcinoma.</p><p><b>METHODS</b>Peripheral blood DNA was extracted from 210 pancreatic carcinoma patients and 213 control subjects. SNaPshot technique was used for genotyping seven SNP sites of the XRCCl gene (rs3213403, rs25487, rs1799782, rs731420, rs1001581, rs12611088, and rs3213282). Logistic regression model was performed to analyze the relationship of different genotypes or haplotype and the susceptibility of pancreatic carcinoma.</p><p><b>RESULTS</b>The frequency for allele A at site rs25487 in the case group was significantly higher than that in the control group (P < 0.05). The frequency of GG, GA and AA genotype between the case group and control group had statistically significant differences (P < 0.05). Compared with GG genotype, the risk of pancreatic carcinoma in the subjects carrying mutated allele A (GA+AA) was increased by 0.648 times (P < 0.05). Among them the pancreatic carcinoma risk of individuals carrying A allele was increased by 0.552 times compared with the individuals carrying G allele. The frequency of allele and genotype at site rs1799782 in the case group and control group had a significant difference (P < 0.05). Compared with the CC genotype, the risk of pancreatic carcinoma in the subjects carrying mutated allele T (CT+TT) was increased by 0.683 times. Among them the pancreatic carcinoma risk of individuals carrying T allele was increased by 0.549 times compared with the individuals carrying C allele. Significant differences were observed in linkage disequilibrium between any two of the seven SNPs (P < 0.05), the frequency of H4-AGCCCGC, H6-GGCCCGG or H7-AGCCTAG haplotypes was significantly lower in the case group than that in the control group (P < 0.05).</p><p><b>CONCLUSIONS</b>The single nucleotide polymorphisms of rs25487 and rs1799782 for XRCC1 gene may be correlated with the occurrence of pancreatic carcinoma. The haplotypes of H4-AGCCCGC, H6-GGCCCGG and H7-AGCCTAG might be a potential genetic protective factor for the occurrence of pancreatic carcinoma.</p>

Study on clinical features and etiology of primary Budd-Chiari Syndrome / 中华肝脏病杂志

<p><b>OBJECTIVE</b>To prospectively study clinical features and etiology in patients with incident Budd-Chiari syndrome (BCS) in China.</p><p><b>METHODS</b>Taking consecutive case series of patients with incident BCS as who were diagnosed in our hospital, enrolled from September 2010 to January 2012 as the object of research, and the follow-up was lasting until June 2012. Taking records for all patients' symptoms, signs, laboratory findings, radiology findings, treatment, interventional treatment survival and symptom-free period.</p><p><b>RESULTS</b>There are total 149 incident cases of BCS. In which, the median age was 46 years old (range 10 to 82); 61.7% of them were male patients, 38.3% were female patients; 85.9% of them were chronic, the other patients (14.1%) were diagnosed during acute or subacute periods; the median duration of symptoms before diagnosis was 96 months (range 1 day to 360 months). In terms of causes, 30.9% of the patients caused by hepatic venous block, 5.4% of them resulted from inferior vena cava block, and the rest 63.8% were suffered from combined hepatic venous and inferior vena cava block. 80.5% patients have at least one etiological factor, Furthermore, the most common cause was the web (61.1%), only 4.8% have myeloproliferative diseases (JAK2 V617F mutation), and none Factor V Leiden mutation cases was found. 144 patients were treated by percutaneous transluminal angioplasty, the technical success rate was 95.1%, and took oral anticoagulation therapy for 12 months. At 18 months, The survival rate and the symptom-free survival rate after percutaneous transluminal angioplasty were 97.8% and respectively.</p><p><b>CONCLUSION</b>Web is the most prevalent etiological factor for BCS in China. It is different in western countries; the common reasons of BCS are risk factors related to thrombosis, such as myeloproliferative disease and Factor V Leiden mutation, etc., which are seldom found in Chinese BCS patients. In China, most chronic BCS patients were treated with percutaneous transluminal angioplasty and have excellent clinical outcome.</p>