摘要:目的:研究高血压病患者脂蛋白脂肪酶(liportein lipase, LPL)S447X基因多态性与认知功能之间的关系。方法: 对2008年1月至2008年11月在四川大学华西医院医院门诊就诊的原发性高血压患者190例,收集一般资料,采用国际通用的简易智力状况量表测验认知功能,计算认知评分,用聚合酶链反应限制性片段长度多态性(PCRRFLP)技术测定LPL S447X基因多态性。同时测定胆固醇、甘油三酯、空腹血糖、空腹胰岛素及餐后2h血糖、餐后2h胰岛素水平。结果: 高血压病患者认知功能正常组和认知功能障碍组组间LPLS447X基因的基因型和基因频率差异均无统计学意义(Pgt;0.05), SS和SX频率分别为92.6%、7.4%,S和X等位基因频率分别为96.3%和3.7%。结论: LPLS447X 基因多态性可能与高血压认知功能障碍无明显相关性。Abstract: Objective:To study the relationship between liportein lipase(LPL) S447X polymorphism and cognitive function in patients with primary hypertension. Methods:One hundred and ninety hypertensive patients from January 2008 to November 2008 in West China Hospital of Si Chuan University. We collected the general data and applied the Mini Mental State Examination to test the cognitive function and computed score. PCRRELP method was used to analyze the LPL S447X gene polymorphism. Total cholesterol、triglyeride、fasting plasma glucose and postprandial blood sugar、fasting insulin and postprandial plasma insulin were collected. Results:In primary hypertensive patients, both of the genotype frequency and the allele frequency of the LPL S447X polymorphism were not different between the cognitive normal group and the cognitive impaired group (Pgt;0.05). SS genotype was present in 0926 of the population, SX genotype was present in 0.074 of the population. allele frequencies were 0.963 for S allele and 0.037 for X allele. Conclusion:This results suggest S447X polymorphism in LPL with primary hypertension may not be associated with cognitive impairment. And age and postprandial plasma insulin level are the risk factors of hypertensive cognitive impairment.
ObjectiveTo investigate the relationship between the polymorphisms of estrogen receptor α (ERα) gene PvuⅡ, XbaⅠ and breast hyperplasia. MethodsPolymerase chain reaction-restriction fragment length polymorphism was used to detect the polymorphisms of ERα gene PvuⅡ, XbaⅠ in breast hyperplasia patients (study group, n=89) and healthy controls (control group, n=35). ResultsThe differences of the genotypic frequency and allele frequency of the ERα gene Xba Ⅰ were significant between the study group and the control group (Plt;0.05). According to analysis of the odds ratio (OR), the risk of developing breast hyperplasia for X allele carriers was 0.551 as compared with x allele carriers. But there was no significant difference for the gene polymorphism of PvuⅡ between the study group and the control group (Pgt;0.05). ConclusionThe polymorphisms of XbaⅠof ERα gene is associated with breast hyperplasia and the mutant gene increases breast hyperplasia risk.
Objective To evaluate the correlation of TNF-α G308A polymorphism and rheumatic heart disease (RHD) using meta-analysis. Methods Databases including PubMed, EMbase, CNKI and WanFang Data were searched to collect case-control study on the correlation of TNF-α G308A polymorphism and RHD, published from January 1990 to June 2011. Two reviewers independently screened studies according to the inclusion and exclusion criteria, extracted data and evaluated the methodological quality of the included studies. Then meta-analysis was performed using RevMan 5.1 and SPSS 16.0. Results A total of 5 studies were included, involving 539 RHD cases and 624 controls. The results of meta-analysis according to recessive genetic model of TNF-α G308A showed that there were significant differences in RHD risk between the AA genotype carriers and the GA+GG genotype carries (OR=5.06, 95%CI 2.15 to 11.89, P=0.0002), the same as the results of meta-analysis calculated according to dominant genetic model (OR=3.14, 95%CI 1.05 to 9.38, P=0.04). Conclusion Current evidence shows that TNF-α G308A polymorphism is related to RHD, and the AA genotype carriers tend to face an increasing RHD risk. This conclusion still needs to be further proved by more high-quality and large-scale clinical trials.
Objective To evaluate the associations of 16 variants in clopidogrel-relevant genes with early neurological deterioration (END) in acute ischemic stroke (AIS) patients receiving clopidogrel treatment. Methods AIS patients admitted to the Department of Neurology of three hospitals between June 2014 and January 2015 were included. The 16 variants in clopidogrel-relevant genes were examined using mass spectrometry. Gene-gene interactions were analyzed by generalized multifactor dimensionality reduction (GMDR) methods. The primary outcome was END within the 10 days of admission. Results A total of 375 patients with AIS were included. Among the 375 patients, 95 (25.33%) patients developed END within the first 10 days of admission. Among the 16 variants, only CYP2C19*2 rs4244285 AG+AA was associated with END using single-locus analytical approach (P<0.001). GMDR analysis revealed that there was a synergistic effect of gene-gene interactions among CYP2C19*2 rs4244285, P2Y12 rs16863323, and GPⅢa rs2317676 on risk for END (P=0.019). Cox regression analysis showed that the high-risk interactive genotype was independent predictor for END [hazard ratio=2.184, 95% confidence interval (1.472, 3.238), P=0.004]. Conclusions END is very common in patients with AIS. Interactions among CYP2C19*2 rs4244285, P2Y12 rs16863323, and GPⅢa rs2317676 may confer a higher risk for END. It may be very important to modify clopidogrel therapy for the patients carrying the high-risk interactive genotype.
ObjectiveTo investigate the relationship between the mannose-binding lectin 2 (MBL2) codon 52 A/D gene polymorphism and tuberculosis risk by meta-analysis. MethodsThe Embase, PubMed, China National Knowledg Infrastructure, Wanfang databases were searched to identify domestic and foreign case-control studies involving the association between MBL2 codon 52 A/D gene polymorphism and tuberculosis risk from establishment of these database till May 20, 2015. Two reviewers collected data according to the inclusion and exclusion criteria, and extracted data and assessed quality of the literature. Meta analysis was performed by RevMan 5.2 software and Stata 10.0 software. ResultsIn total, 1 282 cases and 1 483 controls from nine case-control studies were included in this meta-analysis. According to the test of heterogeneity, there was statistical heterogeneity among these studies (P < 0.1). Thus, we conducted the analysis by the random effect model on the basis of heterogeneity test. The results indicated that MBL2 codon 52 A/D gene polymorphism might not be associated with risk of tuberculosis [DD+AD versus AA: OR=1.46, 95% CI (0.87, 2.43), P=0.15] in total analysis by random effect model. However, when stratifying separately according to ethnicity, a significant association between MBL2 codon 52 A/D gene polymorphism and tuberculosis risk was found in Asians [OR=1.96, 95% CI (1.27, 3.03), P=0.003 for DD+AD versus AA], but not among Caucasians [OR=1.36, 95% CI (0.52, 3.56), P=0.53 for DD+AD versus AA]. Conclusions The present meta-analysis indicates that the polymorphism of MBL2 codon 52 A/D may be a risk factor for TB in Asians. But the MBL2 codon 52 A/D gene polymorphism may not contribute to the risk of tuberculosis in Caucasians.
ObjectiveTo systematically review the association between ADAM33 (a disintegrin and metalloproteinase domain33) T2 (rs2280090), S2 (rs528557), and V4 (rs2787094) polymorphisms and asthma in Chinese Han population. MethodsWe electronically searched databases including PubMed, Web of Science, CNKI, WanFang Data and VIP from inception to December 2014, to collect case-control studies about the association between ADAM33 polymorphisms and asthma in Chinese Han population. Two reviewers independently screened literature, extracted data and assessed the risk of bias of included studies. Then, meta-analysis was performed using Stata 12.1 software. ResultsA total of 8 case-control studies including 1651 asthma patients and 1639 controls were included. The results of meta-analysis showed that: ADAM33 T2 polymorphism was associated with decreased risk of asthma (AA+AG vs. GG: OR=0.316, 95%CI 0.151 to 0.659, P=0.002), and the S2 polymorphism was associated with increased risk of asthma (GG+GC vs. CC: OR=1.271, 95%CI 1.023 to 1.578, P=0.030). However, no significant association was found between asthma risk and V4 polymorphism (GG+GC vs. CC: OR=1.561, 95%CI 0.638 to 3.823, P=0.330). Subgroup analysis by age indicated that the T2 polymorphism was associated with decreased risk of asthma in both adults and children, the S2 polymorphism was only associated with increased risk of asthma in adults, however, no significant association was found between asthma and the ADAM33 V4 polymorphism in both adults and children subgroups. ConclusionCurrent evidence shows that the ADAM33 T2 and S2 polymorphisms are associated with risk of asthma in Chinese Han population. Due to the limited quantity and quality of the studies, the above conclusion still need to be verified by further more high-quality studies.
Objective To summarize the association between CYP1A1 rs4646903 polymorphisms and COPD risk. Methods Systematic literature search was conducted (up to January 2016) in five online databases, ie. PubMed, Embase, China National Knowledge Infrastructure (CNKI), VIP database, and WanFang databases. The strength of association was calculated by odds ratio (OR) and corresponding 95% confidence interval (CI). Results Six case-control studies with 1 050 cases and 1 202 controls were included. This study suggested a significant association between the CYP1A1 rs4646903 polymorphism and COPD risk (CC vs. TT: OR=1.63, 95%CI 1.17-2.27, P=0.004; CC vs. TC+TT: OR=1.62, 95%CI 1.19-2.20, P=0.002). However, there was no significant difference between allele model (C vs. T, OR=1.20, 95%CI 0.95-1.51, P=0.118) and dominant model (CC+TC vs. TT, OR=1.19, 95%CI 0.82-1.72, P=0.366). Conclusions The CYP1A1 rs4646903 polymorphisms might alter the susceptibility of COPD. More well-designed studies with larger sample size are warranted.
ObjectiveTo investigate the role of leptin receptor gene Gln223Arg polymorphism in pathogenesis of asthma. MethodsOne hundred and eighty-five asthmatic outpatients and inpatients in the Qingdao Municipal Hospital between June 2009 and May 2012 were recruited in the study.Two hundred and seven healthy volunteers were recruited as control.Peripheral blood was sampled from all subjects for measuring serum leptin level by ELISA,and analyzing leptin receptor gene Gln223Arg genotypes by polymerase chain reaction-restriction fragment length polymorphism(PCR-RFLP) in white blood cells. ResultsThere was significant difference in frequency distribution of leptin receptor gene Gln223Arg genotype between the asthma group and the health group (χ2=6.173,P=0.013,OR=1.697,95%CI 1.115-2.585).The GG genotype was associated with a 1.895-fold increased risk for asthma than the GA+AA genotype (χ2=7.283,P=0.007,OR=1.895,95%CI 1.187-3.024).The serum leptin level of the GG genotype group was significantly higher than that in the GA+AA genotype group[(2.56±1.47) ng/mL vs.(2.16±1.66) ng/mL]. ConclusionLeptin receptor gene Gln223Arg polymorphism is correlated with asthma, and the G allele might be the genetic factor that contributes to individual susceptibility for asthma by causing high serum leptin level.
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.
Objective To perform a meta-analysis and investigate the correlation between angiotensin-I converting enzyme gene insertion (I), deletion (D) polymorphism and type 2 diabetic nephropathy, assessing the bias of small sample size study and heterogeneity between studies. Methods MEDLINE, EBSCO, EMbase, PubMed, CHKD, CNKI, CBM, VIP and WanFang Data were searched (from January 1994 to March 18th 2011) for relevant case-control studies. Two reviewers independently identified the literature according to inclusion and exclusion criteria. Also references of the included literature were retrieved. Then data were extracted and assessed by the Newcastle-Ottawa Scale (NOS). Meta-analysis was performed using RevMan 5.0.0 software. Results A total of 61 studies comprising 9 979 cases and 7 252 control subjects were included. There was b evidence of heterogeneity (Plt;0.05, I2=60%) and a random effect model was employed to summarize the data. Results of meta-analysis showed that T2DM patients with II genotype had lower incidences of DN than those with DD+DI genotype (OR=0.65, 95%CI 0.57 to 0.74). The results of subgroup meta-analysis showed that Chinese, Japanese and Brazilians patients with II genotype had lower incidences of DN. However, there were no relation among Caucasus, Middle-East, Indian, Mexican, Korean, and Malaysian patients. Conclusion As for T2DM patients, their angiotensin-I converting enzyme gene insertion (I), deletion (D) polymorphism relates to DN. T2DM patients with II genotype have lower incidences of DN. But the difference of this relation varies with ethnicity.