目的探讨DNA损伤修复基因XRCC1 Arg194Trp位点多态性与结直肠癌易感性的关系。 方法选取120例结直肠癌患者与120例正常对照者进行对比研究。取外周血提取DNA，采用限制性片段长度多态性聚合酶链反应（PCR-RFLP）技术对XRCC1 Arg194Trp基因多态性进行检测分析，比较不同基因型与结直肠癌易感性的关系。 结果2组观察对象在年龄、性别、吸烟、饮酒、饮食特点等常见暴露因素方面的差异均无统计学意义（P＞0.05），变异基因型Arg/Trp＋Trp/Trp出现频率在2组观察对象中分别为30.00%和24.17%，差异无统计学意义（P＞0.05）。 结论XRCC1 Arg194Trp位点多态性与结直肠癌的易感性并无显著相关性。
ObjectiveTo explore the relationship between the -2548 G/A functional polymorphism in the 5′ promoter region of the leptin gene and gallstones. Methods The -2548 G/A polymorphisms of leptin gene were determined by polymerase chain reactionrestriction fragment length polymorphism technology (PCRRFLP) in 118 patients with cholesterol gallstones and 53 normal control subjects. Then the allele and genotype distribution were studied. Results The distribution of leptin2458 G/A in two groups was statistically significantly different: the genotype frequency of AA+GA of patients in gallstone group was higher than that in control group (χ2=4.251, P=0.039). AA+AG genotype had 2.813 times greater risk for gallstone disease compared with GG genotype (OR=2.813, 95% CI=1.020-7.757). Allele frequency distribution in the two groups was different: the allele frequency of A of patients in gallstone group was higher than that in control group (χ2=5.791, P=0.016). The risk of gallstone disease in the A alleles carriers was 1.777 times as higher as the carriers of G alleles (OR=1.777, 95% CI=1.110-2.844). ConclusionThe -2548 G/A polymorphism in the 5′ promoter region of leptin gene is significantly correlated with the gallstones. The A alleles of leptin may be a genetic factor which contributes to individual susceptibility for gallstone, while the G alleles of leptin may be a genetic factor that prevents people from gallstone.
Objective To evaluate the relationship between genetic polymorphism of ApoE and Alzheimer’s disease in Chinese population. Methods Such databases as PubMed, EBSCO, CNKI, CBM, and WangFang Data were searched from their establishment to December 2010 to collect the literature about the relationship between genetic polymorphism of ApoE and Alzheimer’s disease in Chinese population. RevMan 5.0 was adopted to conduct consistency check and data merging, and to evaluate publication bias. Results ApoEε4 was the risky allele (Plt;0.05) in Chinese population, and its pooled odds ratios and 95%CI was 3.53 (2.49 to 5.00). ApoEε3 was the protective alleles (Plt;0.05) in Chinese population, and its pooled odds ratios and 95%CI was 0.52 (0.40 to 0.68). ApoEε4/ε4, ApoEε4/ε3, and ApoEε4/ε2 were the risky genotypes (all Plt;0.05) in Chinese population, and their pooled odds ratios and 95%CI were 10.17 (4.25 to 24.19), 2.57 (2.04 to 3.25), and 1.94 (1.13 to 3.34), respectively. ApoEε3/ε3 was the protective genotype (Plt;0.05) in Chinese population, and its pooled odds ratios and 95%CI was 0.67 (0.57 to 0.77). Conclusion In Chinese population, some ApoE alleles and genotypes are associated with Alzheimer’s disease.
目的:本文通过研究白介素23受体(IL-23R)基因多态性与扩张型心肌病(DCM)的相关性,探讨DCM患者的免疫遗传学发病机制. 方法:采用PCR-RFLP方法测定DCM患者和正常对照者IL-23R基因rs7517847位点的单核苷酸多态性. 用卡方检验比较病例组与对照组之间基因型频率和等位基因频率的统计学差异。结果:IL-23R基因rs7517847位点单核苷酸多态基因型和等位基因频率在DCM组与正常对照组之间无差异。结论:本研究未发现IL-23R基因rs7517847位点多态性与DCM相关。
ObjectiveTo investigate the distribution of uridine diphosphate-glucuronosyltransferase 1A1 (UGT1A1) gene polymorphisms in esophageal carcinoma (EC) patients, and their relationship with adverse effects (delayed diarrhea and neutropenia) of Irinotecan. MethodsForty-eight patients with esophageal squamous carcinoma who were admitted to Sichuan Provincial People's Hospital between January and October 2012 were recruited in the study. There were 37 male and 11 female patients with their age of 56 (25-38) years. Formalin-fixed, paraffin-embedded samples were collected from those EC patients and genomic DNA was extracted. UGT1A1 polymorphisms were detected by PCR and DNA sequencing. Three genetic loci were investigated including UGT1A1* 28 (TA6 > TA7), UGT1A1* 6 (211G > A) and UGT1A1* 93 (-3156G > A). Adverse effects (delayed diarrhea and neutropenia) of patients with different UGT1A1 polymorphisms after Irinotecan treatment were recorded. The relationship between UGT1A1 polymorphisms and Irinotecan-induced adverse effects was analyzed. ResultsUGT1A1 polymorphisms were detected in 10 out of 48 (20.8%) EC patients. UGT1A1* 93 (-3156G > A)polymorphisms were most common with the polymorphism rate of 16.7% (8/48), followed by GT1A1* 6 (211G > A) polymorphisms with the polymorphism rate of 4.2% (2/48). The incidences of grade 3~4 diarrhea and grade 3~4 neutropenia after Irinotecan treatment in the patients with UGT1A1 polymorphisms were 60.0% and 40.0% respectively, which were significantly higher than those of the patients with wild type UGT1A1 (21.1% and 15.8% respectively, P < 0.05). UGT1A1 polymorphism rates were 45.5% (5/11) in female patients and 13.5% (5/37) in male patients, which were significantly different (P < 0.05). ConclusionsIn EC patients, 2 polymorphism loci including UGT1A1* 93 (-3156G > A) and GT1A1* 6 (211G > A) can effectively predict adverse effects caused by Irinotecan treatment. UGT1A1 polymorphism rate of male patients is significantly lower than that of female patients.
Objective To investigate the association between the genetic polymorphisms of osteoprotegerin gene and bone mineral density ( BMD) in elderly patients with chronic obstructive pulmonary disease ( COPD) .Methods 178 elderly COPD patients admitted in respiratory department between January 2008 and December 2009 were recruited as a COPD group. 195 elderly healthy subjects without COPD were recruited as a control group. The subjects were all chosen from the Han population in Lanzhou city, Gansu province. Pulmonary function ( FEV1 /FVC, FEV1% pred) , body mass index ( BMI) , serum calcium ( Ca) , serum phosphate ( P) , and alkaline phosphatase ( ALP) were determined in all subjects. The OPG gene polymorphisms were analyzed by polymerase chain reaction and restriction fragment length polymorphism ( PCR-RFLP) . BMD was examined by dual-energy X-ray absorptiometry. Results In the COPD group, the distribution frequency of AAGG, GATA, and GGTT in OPG HTT gene-linked polymorphic region G209A and T245G were 2.5%, 27.2% , and 72.3% , respectively, which in the control group were 2.2% , 26.9% , and 70.9%, respectively. The genotype distribution difference of two groups had no statistical significance ( P gt; 0.05) . There were also no statistical differences in BMI, serum Ca, serum P, serum ALP or BMD between different genotype subgroups in two groups ( P gt;0.05) . In the COPD group, the genotype distribution had no statistical significance between different BMD subgroups( P gt; 0.05) . Conclusion In the elderly patients with COPD from Han population at Lanzhou city, OPG HTT gene-linked polymorphic region and T245G gene polymorphism have no significant correlation with reduced lung function, reduced BMD and bone metabolism which are not likely to be susceptibility loci for osteoporosis in COPD patients.
ObjectiveTo evaluate the association between the Single Nucleotide Polymorphism (SNP) BsmI (rs1544410) in the vitamin D receptor gene and the susceptibility of coronary artery disease. MethodsDatabases including PubMed, Web of Science, CNKI, WanFang Data, VIP and CBM were searched from inception to May, 2016 to collect case-control studies about SNP BsmI (rs1544410) in the vitamin D receptor gene and the susceptibility of coronary artery disease. Two reviewers independently screened literature, extracted data, and assessed the risk of bias of included studies. Then Meta-analysis was performed by using RevMan 5.3. ResultsA total of seven studies were included, which involved 2182 patients and 5925 controls. The results of meta-analyses showed that the B allele and BB genotype in rs1544410 was associated with the risk of coronary artery disease (B vs. b:OR=1.36, 95%CI 1.03 to 1.79, P=0.03; BB vs. bb:OR=1.70, 95%CI 1.06 to 2.72, P=0.03; BB+Bb vs. bb:OR=1.52, 95%CI 1.00 to 2.30, P=0.05). Subgroup analysis by age showed that rs1544410 was associated with the risk of coronary artery disease in the age <65(B vs. b:OR=1.65, 95%CI 1.00 to 2.73, P=0.05; BB vs. Bb+ bb:OR=1.79, 95%CI 1.08 to 2.97, P=0.02; BB vs. bb:OR=2.64, 95%CI 1.12 to 6.25, P=0.03). Subgroup analysis by ethnicity showed that rs1544410 was associated with the risk of coronary artery disease in Caucasians (B vs. b:OR=1.47, 95%CI 1.10 to 1.97, P=0.01; BB+Bb vs. bb:OR=1.71, 95%CI 1.09 to 2.68, P=0.02; BB vs. Bb+bb:OR=1.39, 95%CI 1.01 to 1.92, P=0.05; BB vs. bb:OR=1.80, 95%CI 1.10 to 2.95, P=0.03). Subgroup analysis by genotyping methods showed that rs1544410 was associated with the risk of coronary artery disease in the TaqMan (B vs. b:OR=2.18, 95%CI 1.06 to 4.45, P=0.03; BB+Bb vs. bb:OR=3.32, 95%CI 1.06 to 10.40, P=0.04; BB vs. bb:OR=3.31, 95%CI 1.06 to 10.30, P=0.04). Subgroup analysis by diagnostic criteria for cases showed that rs1544410 was associated with the risk of coronary artery disease in the ECG (B vs. b:OR=1.15, 95%CI 1.02 to 1.29, P=0.02; BB+Bb vs. bb:OR=1.22, 95%CI 1.02 to 1.45, P=0.03; BB vs. bb:OR=1.31, 95%CI 1.03 to1.67, P=0.03). ConclusionBsmI (rs1544410) B allele may have a significant association with the high risk of coronary artery disease especially the Caucasians and the ones with age <65.
Objectives To evaluate the relationships between the Scavenger Receptor Class B1 (SCARB1) polymorphisms and susceptibility of cardiovascular diseases (CVDs). Methods Databases including PubMed, Web of Science, CNKI, WanFang Data and VIP were searched from inception to December 31st 2017 to collect case-control studies on relationships between Scavenger Receptor Class B1 (SCARB1) polymorphisms and susceptibility of CVDs. Paper screening, data extraction and assessment of risk of bias were carried out. Meta-analysis was then conducted by Stata 12.0 software. Results In total, 12 studies relevant to SCARB1 rs5888C/T, rs4238001 G/A and rs10846744 G/C polymorphisms were included. Meta-analysis showed that there was no significant association between the rs5888 C/T polymorphism and susceptibility of CVDs (C vs. T: OR=0.97, 95%CI 0.86 to 1.09, P=0.627), neither for the rs4238001 G/A (G vs. A: OR=0.87, 95%CI 0.64 to 1.17, P=0.344). However, the rs10846744 G/C polymorphism was significantly associated with CVDs risk (G vs. C: OR=1.30, 95%CI 1.11 to 1.52, P=0.001). Subgroup analysis showed that, for non-Asian subjects, there was a significant association between the rs5888 C/T polymorphism and susceptibility of CVDs (C vs. T: OR=0.82, 95% CI 0.68 to 0.99, P=0.040). Conclusions SCARB1 rs10864744 G/C polymorphism could be associated with risk of CVDs. Considering the quantity and quality limitation of the included studies, the conclusion has to be verified by more large-scale high quality studies.