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.
Objective To investigate the association between the -6843G/A polymorphism of highaffinity IgE receptor βchain ( FcεRIβ) gene and asthma susceptibility in Chinese population.Methods We searched Pubmed, EMBASE, CNKI ( Chinese National Knowledge Infrastructure) , Wanfang Datebase, VIP Database up to October 1,2009. Statistical analysis was performed with the software program RevMan 4. 2. 8 and STATA 10. 0. Results A total of 9 case-control studies were included in the meta-analysis. The results indicated that the G allele carriers had a 49% increased risk of asthma in Chinese population ( GG + GA vs. AA: OR=1. 49, 95% CI 1. 01-2. 22) . In the subgroup analysis, the results indicated that the polymorphism was associated with increased risk of asthma in the adults ( GG + GA vs. AA: OR = 1. 83, 95% CI 1. 32- 2. 52) , but not in children ( GG + GA vs. AA: OR = 1. 19, 95% CI 0. 68-2. 08) . Conclusion The -6843G/A polymorphism of FcεRIβ gene is associated with increased asthma susceptibility in Chinese population.
Objective To evaluate the relationship between the single nucleotide polymorphisms (SNPs) of the adiponectin gene +45 in exon 2 and type 2 diabetes mellitus (T2DM) in Chinese population via meta-analysis. Methods Databases including PubMed, Ovid, CBM, VIP, CNKI, and WanFang Data were searched from inception to June 2012, and the references of articles were also retrieved to collect case-control studies about the correlation of SNPs of the adiponectin gene +45 in exon 2 and T2DM in Chinese population. According to the self-designed inclusion and exclusion criteria, two reviewers screened articles, extracted data, and assessed the quality of the included studies independently. Then meta-analysis was performed STATA 11.0, with stability evaluated by both stratified analysis and sensitivity analysis. Moreover, Begg’s funnel plot and Egger’s method were used to assess the published bias of articles. Results 21 articles involving 22 studies were included (3272 T2DM cases and 2597 controls). There were significant differences between the two groups in dominant, recessive and addictive genetic models, and the pooled ORs (95% CI) were 1.36 (1.04, 1.78), 2.07 (1.55, 2.75), and 2.44 (1.59, 3.75), respectively. Conclusion The genetic single nucleotide polymorphisms of the adiponectin +45 in exon 2 is associated with type 2 diabetes in Chinese population. G allele of APM1 is a risk factor for type 2 diabetes, no matter in dominant, recessive or addictive genetic models.
Objective To explore the correlation of adiponectin rs2241766 gene polymorphism and colorectal cancer. Methods Case-control studies about correlation of adiponectin rs2241766 gene polymorphisms and colorectal cancer were searched by computer retrieval on PubMed, Sciencedirect, Embase, the Cochrane Database, OVID Medline, Springer Link, EBSCO Database, CNKI, VIP, Wanfang, and Chinese Biomedicine Database, the retrieval time was from inception of database to September 30, 2017. At the same time, collected similar literatures and references by manual retrieval. Two independent researchers took the mask of study selection and data extraction, Review Manager 5.3 software was used on calculation results with the OR value and 95% confidence interval (95% CI), on the condition of 5 kinds of gene models. Results A total of 10 case-control studies were included, including 3 460 cases of colorectal cancer and4 170 controls. Results of meta-analysis showed the effect of 5 kinds of model. ① Allele gene model (G vs T): in general population and Yellow race, allele gene model was related to occurrence of colorectal cancer [ORtotal=1.15, 95% CI was (1.07, 1.24), P=0.000 1; ORYellow race=1.16, 95% CI was (1.08, 1.26), P=0.000 1], but there was no significant difference on relationship between allele gene model and occurrence of colorectal cancer for White [ORWhite=1.08, 95% CI was (0.89, 1.30), P=0.44]. ② Dominant gene model (TG+GG vs TT): in general population and Yellow race, dominant gene model was related to occurrence of colorectal cancer [ORtotal=1.23, 95% CI was (1.12, 1.35), P<0.000 1;ORYellow race=1.24, 95% CI was (1.12, 1.37), P=<0.000 1], but there was no significant difference on relationship between dominant gene model and occurrence of colorectal cancer for White [ORWhite=1.17, 95% CI was (0.93, 1.46), P=0.17]. ③ Implicit gene model (GG vs TT+TG): there was no significant difference on relationship between implicit gene model in 3 kinds of population and occurrence of colorectal cancer [general population: ORtotal=1.09, 95% CI was (0.92, 1.30), P=0.32; White: ORWhite=0.77, 95% CI was (0.46, 1.28), P=0.31; Yellow race: ORYellow race=1.15, 95% CI was (0.95, 1.39), P=0.15]. ④ Codominant gene model (TG vs TT): in general population and Yellow race, codominant gene model was related to occurrence of colorectal cancer [ORtotal=1.20, 95% CI was (1.10, 1.32), P<0.000 1;ORYellow race=1.19, 95% CI was (1.08, 1.32), P=0.000 6], but there was no significant difference on relationship between codominant gene model and occurrence of colorectal cancer for White [ORWhite=1.25, 95% CI was (0.99, 1.58), P=0.06]. ⑤ Superdominant gene model (TT+GG vs TG): in general population and Yellow race, superdominant gene model was related to occurrence of colorectal cancer [ORtotal=0.83, 95% CI was (0.76, 0.91), P<0.000 1;ORYellow race=0.84, 95% CI was (0.76, 0.93), P=0.000 6], but there was no significant difference on relationship between superdominant gene gene model and occurrence of colorectal cancer for White [ORWhite=0.80, 95% CI was (0.63, 1.01), P=0.06]. Conclusion The polymorphism of adiponectin gene rs2241766 is related to the occurrence of colorectal cancer in the Yellow race, but there is no significant correlation in White.
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.
ObjectiveThrough Sequenom iPEX system analyzed the genetic susceptibility in patients with Medial temporal lobe epilepsy (MTLE) which screening hyperpolarization-activated cyclic nucleotide gated channel (HCN) subunit HCN1 and HCN2 single nucleotide polymorphism blood samples. MethodsPatients with epilepsy who were diagnosed MTLE in our epileptic clinic from December 2013 to April 2016 were included in this study, total 143 cases. Healthy volunteers who received annual physical checkups were recruited to serve as controls total 120 cases. The group enter criterion according to a 2004 ILAE report mainly:①12~55 years old; ②attack forms:partial onset seizures or secondary tonic-closure-clonus attack, a common onset symptoms such as stomach gas rise feeling, sense of deja vu, automatism etc.; ③with or without febrile convulsions history; ④EEG displayed unilateral or bilateral temporal spike, sharp slow wave, or their spines slow-wave sample such as epilepsy wave; ⑤head MRI displayed hippocampal sclerosis. Exclusion criteria:①tumors; ②head MRI display focal cortical dysplasia (FCD). Using sequenom iPLEX technology platform to detect all the object of study of gene polymorphism sites total ten sites. All statistical tests were conducted using SPSS version 16.0. Resultsall sites fulfilled Hardy-Weinberg genetic balance. The results showed that HCN1 rs17344896 C/T, rs6451973 A/G and HCN2 rs12977194 A/G three polypeptide sites associated with MTLE, with statistical differences(P < 0.05). ConclusionHCN1 and HCN2 genetic suscepibility is one of possible mechanism of MTLE.
Abstract： Objective To explore the association between transforming growth factor-β receptor typeⅡ (TGFBR2) gene rs6785358 and rs764522 polymorphisms and rheumatic heart disease (RHD) in Chinese Han People. Methods The research design was a case-control study. A total of 207 patients who were hospitalized in Nanjing First Hospital Affiliated to Nanjing Medical University between October 2008 and January 2011 with RHD served as RHD group while 225 age and gender matched healthy adults as control group. Polymerase chain reaction-restriction length polymorphism (PCR-RFLP) technique was used to determine TGFBR2 gene rs6785358 and rs764522 polymorphisms. Results The frequencies of genotype AA, AG and GG of rs6785358 in RHD group and control group were 72.0%, 25.1%, 2.9% and 68.9％, 28.0％, 3.1％,respectively. There was no significant difference in the distribution of genotype frequencies for rs6785358 between RHD group and control group（χ2=0.50，P=0.78）. The frequencies of allele A and G of rs6785358 in RHD group and control group were 84.5％, 15.5％ and 82.9％, 17.1％,respectively. There was no significant difference in the distribution of allele frequencies for rs6785358 between RHD group and control group（χ2=0.43，P=0.51）. The frequencies of genotype CC, CG and GG of rs764522 in RHD group and control group were 77.3%, 21.3%, 1.4% and 75.6％, 21.3％, 3.1％, respectively. There was no significant difference in the distribution of genotype frequencies for rs764522 between RHD group and control group（χ2=1.33，P=0.51）. The frequencies of allele C and G of rs764522 in RHD group and control group were 87.9％, 12.1％ and 86.2％, 13.8％,respectively. There was no significant difference in the distribution of allele frequencies for rs764522 between RHD group and control group（χ2=0.55，P=0.46）. Further analysis by sex stratification showed that no statistical significance was detected in the distribution of genotype and allele frequencies for rs6785358 or rs764522 between RHD patients and controls. Conclusion TGFBR2 gene rs6785358 and rs764522 polymorphisms are not associated with RHD in Chinese Han people.
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.
ObjectiveTo systematically review the association between C677T and A1298C polymorphisms of methylenetetrahydrofolate reductase (MTHFR) gene and the risk of unexplained recurrent spontaneous abortion (URSA). MethodsWe searched PubMed, EMbase, CBM, CNKI, VIP and WanFang Data from inception to May 2015 to collect case-control studies about the association between the MTHFR gene C677T and A1298C polymorphisms and the risk of URSA. Two reviewers independently screened literature, extracted data and assessed the risk of bias of included studies. Then, meta-analysis was performed using RevMan 5.0 and Stata 12.0 software. ResultsA total of 42 case-control studies involving 3 970 URSA patients and 5 297 controls were included. The results of meta-analysis showed that MTHFR C677T polymorphism was associated with the increased risk of URSA (T vs. C: OR=1.34, 95% CI 1.16 to1.54, P < 0.000 01; TT vs. TC+CC: OR=1.70, 95% CI 1.36 to 2.12, P < 0.000 01; TT+TC vs. CC: OR=1.34, 95% CI 1.11 to 1.62, P=0.002; TC vs. CC: OR=1.19, 95% CI 0.99 to 1.43, P=0.061; TT vs. CC: OR=1.95, 95% CI 1.48 to 2.56, P < 0.000 01). Subgroup analysis by ethnicity indicated that the MTHFR C677T polymorphism was associated with the increased risk of URSA in east Asians (T vs. C: OR=1.61, 95% CI 1.39 to 1.87, P < 0.000 01; TT vs. TC+CC: OR=2.05, 95% CI 1.54 to 2.71, P < 0.000 01; TT+TC vs. CC: OR=1.76, 95% CI 1.41 to 2.19, P < 0.000 01; TC vs. CC: OR=1.53, 95% CI 1.21 to 1.94, P < 0.000 01; TT vs. CC: OR=2.77, 95% CI 1.94 to 3.97, P < 0.000 01) but was not associated with the increased risk of URSA in Caucasians. The results of meta-analysis also showed that there was no significant association between the MTHFR A1298C polymorphism and the URSA in all population. ConclusionCurrent evidence indicates that significant association is found between MTHFR C677T mutation and URSA in east Asians but not in Caucasians. Further study indicates that women carrying TT or TC gene significantly increases the risk of URSA and TT mutant gene carriers have a higher URSA risk. There is no significant association between MTHFR A1298C mutation and URSA in all population. Due to the quantity and quality limitations of included studies, more high quality case-control or cohort studies are needed to verify the above conclusions.