Objective To investigate the association of the polymorphism of resistin gene SNP-420C/G and type 2 diabetes (T2DM) among the Chinese Han population. Methods Such databases as CNKI, WanFang database, VIP, SinoMed, and PubMed were electronically searched from January 2001 to July 2010 to collect case-control studies on polymorphism of resistin gene SNP-420C/G and T2DM among the Chinese Han population. The quality of the included studies was evaluated and the data was extracted. RevMan 4.2 software was used for meta-analyses. Results A total of five case-control studies were identified, involving 709 cases in the T2DM group and 572 cases in the control group. The results of meta-analysis showed that the Chinese Han population with CC genotypes of SNP-420 had no higher risks to T2DM (OR=1.02, 95%CI 0.81 to 1.29), and the Chinese Han population with GG genotypes of SNP-420 still had no higher risks to T2DM (OR=1.34, 95%CI 0.95 to 1.90). Conclusion Current evidence suggests that there is no association between the polymorphism of resistin gene SNP-420C/G and risk to T2DM among the Chinese Han population.
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。
Objective To evaluate associations betweenMTHFD1 gene G1958A polymorphism and the risk of neural tube defects (NTDs). Methods We electronically searched databases including PubMed, The Cochrane Library, Web of Science, CNKI, VIP, and WanFang Data from inception to June 2016 to collect case-control studies of the correlation between the G1958A polymorphism inMTHFD1 and the risk of NTDs. Two reviewers independently screened the studies, extracted data and assessed the risk of bias of included studies, and then, meta-analysis was performed using Stata 12.0 software. Results Thirteen case-control studies were included, involving 1 724 NTDs infants, 1 485 mothers and 774 fathers with NTDs offspring. The results of meta-analysis showed that there was significant association betweenMTHFD1 gene G1958A polymorphism and increased risk of NTDs in infants (AAvs. GG: OR=1.437, 95%CI 1.100 to 1.878,P=0.008; AA+AGvs. GG: OR=1.187, 95%CI 1.031 to 1.367,P=0.017; Avs. G: OR=1.210, 95%CI 1.050 to 1.394,P=0.008). However, there was no association between biparentalMTHFD1 gene G1958A polymorphism and NTDs in the offspring. Conclusion The current evidence shows thatMTHFD1 gene G1958A polymorphism may be a genetic risk factor for NTDs. Due to the limited quantity and quality of the included studies, more high quality studies are needed to verify the above conclusion.
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.
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.
摘要:目的:研究高血压病患者过氧化物酶体增殖物激活受体(PPAR)γ2基因Pro12Ala多态性与血糖水平之间的关系。方法:纳入177名原发性高血压患者,其中空腹血糖(FBG)lt;5.6 mmol/L组65例, FBG≥5.6 mmol/L组112例,收集一般资料;分别测定空腹及餐后2小时血糖、胰岛素;对PPARγ2 基因Pro12Ala多态性与各临床变量的关系进行研究。结果:FBGlt;5.6 mmol/L组和FBG≥5.6 mmol/L组Pro和Ala等位基因频率分别为0.333,0.034及0.602,0.031;PP和PA基因型频率分别为0.299,0.068及0.571,0.062;无AA型纯合子。以体重指数(BMI)分层后,BMIlt;25组内,FBG与PPARγ2基因型相关（P=0.029)。以基因型分组比较,PA组空腹血糖水平和胰岛素抵抗指数都低于PP组(Plt;0.05)。结论:成都地区高血压患者PPARγ2基因Pro12Ala多态性与空腹血糖水平相关,且携带Ala基因者空腹血糖水平较低,胰岛素抵抗较轻,推测该突变可能有减轻高血压病患者胰岛素抵抗,改善糖代谢异常的作用。Abstract: Objective:To study the association between the Pro12Ala polymorphism in peroxisome proliferatorsactivated receptorγ2 ( PPARγ2 ) gene and blood glucose levels in patients with primary hypertension. Methods：The Pro12Ala polymorphism in PPARγ2 was determined by polymerase chain reactionrestriction fragment length polymorphism (PCRRELP) in 177 subjects with primary hypertension of the Han people in Chengdu of China, including 65 subjects with fasting blood glucose (FBG)lt;5.6 mmol/L and 112 subjects with FBG≥5.6 mmol/L; the clinical characteristics including height, weight, OGTT(0h and 2h) of the subjects were detected and the realationship between the Pro12Ala polymorphism and the clinical characteristics were analysed. Results: The allele frequencies in the group with FBGlt;5.6 mmol/L and FBG≥5.6 mmol/L were 0.333, 0.602 for Pro and 0.034, 0.031 for Ala. The genotype frequencies were 0.299, 0.571 for PP and 0.068, 0.062 for PA, and there was no AA. In the group with BMIlt;25, the Pro12Ala polymorphism was associated with FBG （P=0.029). the Ala allele had a negative relationship to the FPG and insulin resistance index (IRI) (Plt;0.05).Conclusion: The data showed that the Pro12Ala polymorphism was associated with FBG., and The allele Ala probably had benefits to glycometabolic disturbance in patients with primary hypertension by declining insulin resistance.
ObjectiveTo investigate the association between CYP11B2 gene polymorphism and left ventricular hypertrophy in Chinese hypertensive patients by the means of meta-analysis. MethodsLiteratures about case control study on the association of CYP11B2 gene polymorphism and left ventricular hypertrophy were searched from January 1980 to December 2012.The electronic databases searched included China national knowledge internet,Chinese biological medicine disk,Vip fulltext database,Wanfang fulltext database and Pubmed.Odds ratio (OR) of CYP11B2 genotype distributions in left ventricular hypertrophy (LVH) patients against NLVH patients were analyzed.RevMan 5.1 software was applied for investigating heterogeneity among individual studies and summarizing effects across studies by proper statistical methods. ResultsSix case-control studies were selected finally.A total of 1 791 hypertensive patients were included.The pooled OR (95% CI) of CC vs.TT+TC genotype was 1.21(0.80,1.81)(Z=0.91,P=0.36),the pooled OR (95% CI) of (TC+CC) vs.TT genotype was 1.16(0.68,1.98)(Z=0.54,P=0.59),and the pooled OR (95% CI) of C vs.T allele was 1.09(0.78,1.54)(Z=0.51,P=0.61). ConclusionThe genotype of CYP11B2 polymorphism is not associated with an increase risk of left ventricular hypertrophy in Chinese hypertensive patients.
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.
Warfarin is one of the most frequently prescribed oral anticoagulant. Many researches have shown that the cytochrome P450 2C9 (CYP2C9) and vitamin K epoxide reductase complex 1 (VKORC1) genotypes have been strongly associated with warfarin maintenance doses. Warfarin maintenance doses can be accurately predicted by use of dosing algorithms including genetic and clinical information. Although several clinical trials demonstrated mixed results, calling into question the utility of this approach. The present data do not support genetic testing to guide warfarin maintenance doses, but in the setting where genotype data are available, use of this approach is reasonable. Ongoing trials are expected to provide more data, and more work is needed to define dosing algorithms that include appropriate variables in minority populations. All these work will further improve the clinical application of genotype-guided warfarin maintenance doses.