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.
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.
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 investigate the correlation between OPRM1 A118G gene polymorphism and Eysenck personality type and pain sensitivity. Methods The surgical patients who were transferred from Department of Emergency Medicine to Department of General Surgery of Luzhou People’s Hospital between January 2018 and December 2020 were selected. Before surgery, Eysenck Personality Questionnai (EPQ) was used to investigate the patient’s personality type, and the pain threshold and pain tolerance threshold were determined by electric stimulation instrument. The OPRM1 A118G genotype of peripheral venous blood was detected by polymerase chain reaction-restriction fragment length polymorphism analysis technique. Patients were divided into wild homozygous (A/A) group, mutant heterozygous (A/G) group and mutant homozygous (G/G) group according to the typing results. The general condition, pain sensitivity, EPQ score, difference of Eysenck personality type and correlation between Eysenck personality type and pain sensitivity were analyzed. Results A total of 356 patients were enrolled, including 174 in A/A group, 136 in A/G group and 46 in G/G group. The mutation rate of OPRM1 A118G gene was 32.00%. There were statistically significant differences in pain sensitivity (pain threshold, pain tolerance threshold) and scores of introverted and extraverted, neurotic and dissemble personality types among three groups (P<0.05). There were significant differences in introverted and extraverted and psychotic personality types among the three groups (P<0.05). There were significant differences in pain threshold and pain tolerance threshold among different introverted, extraverted and psychotropic personality types (P<0.05). Conclusion Both OPRM1 A118G gene polymorphism and Eysenck personality type have influence on pain sensitivity, and there is a correlation between them.
ObjectivesTo investigate the correlation of warfarin dose genetic and polymorphism of Han-patients after heart valve replacement, to forecast the anticoagulation therapy with warfarin reasonable dosage, and to realize individualized management of anticoagulation monitoring. MethodsWe selected 103 patients between January 1, 2011 and December 31, 2012 in West China Hospital of Sichuan University who were treated by oral warfarin after heart valve replacement with monitoring anticoagulation by international normalized ratio (INR) in Anticoagulation Therapy Database of Chinese Patients after Heart Valve Replacement. There were 32 males and 71 female at age of 21-85 (48.64± 11.66) years. All the patients' CYP2C9 and VKORC1 genetic polymorphisms were detected by using polymerase chain reaction-restriction fragment length polymorphism (PCR-RELP) method and gene sequencing technology. Warfarin concentration in plasma was determined by high performance liquid chromatography (HPLC) method. The activity of coagulation factorⅡ, Ⅶ, Ⅸ, Ⅹwas determined by Sysmex CA7000 analyzer. ResultsThe multivariate linear regression analysis showed that age, body surface area, and coagulation factor activity had no significant effect on warfarin dosage. While the gene polymor-phisms of CYP2C9 and VKORC1, warfarin concentration, and age had significant contributions to the overall variability in warfarin dose with decisive coefficients at 1.2%, 26.5%, 43.4%, and 5.0% respectively. The final equation was:Y=1.963-0.986× (CYP2C9* 3) +0.893× (VKORC1-1639) +0.002× (warfarin concentration)-0.019× (age). ConclusionMultiple regression equation including gene polymorphisms of CYP2C9 and VKORC1, non-genetic factors of coagulation factor activity, warfarin concentration, age, and body surface area can predict reasonable dosage of warfarin for anticoagulation to achieve individualized management of anticoagulation monitoring and reduce the anticoagulation complications.
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.
Objective To investigate the correlation of the polymorphism of the estrogen receptor alpha gene Pvu II site and coronary heart disease (CHD) in Chinese population. Methods Such databases as CBM, CNKI, Wangfang database, VIP, MEDLINE, The Cochrane Library, EMbase, Springer, and Ovid were searched from their establishment date to November of 2010 to collect the case-control studies on the correlation of estrogen receptor alpha gene polymorphism Pvu II sites with coronary heart disease of the Chinese. The quality of included studies was evaluated, the available data was extracted, and then the RevMan5.0 software was used for Meta analyses. Results Nine case-control studies were included, involving 1 464 cases with coronary heart disease and 1 203 cases in the control group. The results of Meta-analyses showed that, as to the correlation of the polymorphism of ER alpha gene Pvu II site T/C and CHD, there was no significant difference in the risk of CHD between people with different genotypes, i.e. the C allele versus T allele (OR=0.95, 95%CI 0.77 to 1.17, P=0.63), genotype of (TC + CC) versus TT (OR=0.97, 95%CI 0.73 to 1.28, P=0.81), genotype of TC versus TT (OR = 0.93, 95%CI 0.68 to 1.26, P=0.64), genotype of CC versus TT (OR=0.86, 95%CI 0.57 to 1.31, P=0.49). Conclusion Estrogen receptor alpha gene polymorphism Pvu II site are not associated with the coronary heart disease in Chinese population.
ObjectiveTo systematically review the relationship between T309G polymorphism of murine double minute 2 (MDM2) gene and susceptibility of prostate cancer. MethodsThe PubMed, Embase, WanFang Data, CNKI databases were electronically searched to collect case-control studies related to the objectives from inception to May, 2023. Two reviewers independently screened literature, extracted data and assessed the risk of bias of the included studies. Meta-analysis was then performed by using Stata 14.0 software. ResultsA total of 10 studies involving 5 781 patients and 5 477 healthy controls were included. The results of meta-analysis showed that the MDM2 gene T309G polymorphism was not associated with preeclampsia (allele model G vs. T: OR=0.89, 95%CI 0.77 to 1.04, P=0.13; homozygote model GG vs. TT: OR=0.86, 95%CI 0.64 to 1.16, P=0.32; heterozygote model TG vs. TT: OR=1.04, 95%CI 0.86 to 1.26, P=0.12; dominant model GG+TG vs. TT: OR=0.96, 95%CI 0.89 to 1.04, P=0.36; recessive model GG vs. TG+TT: OR=0.84, 95%CI 0.63 to 1.14, P=0.27). The results of subgroup analysis based on ethnicity and source of control were similar to the overall results. Sensitivity analysis showed that the results were robust. Conclusion Current evidence shows that the MDM2 gene T309G polymorphism is not associated with prostate cancer susceptibility. Due to the limited quality and quantity of the included studies, more high quality studies are needed to verify the above conclusion.
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 explore the association between manganese superoxide dismutase (MnSOD) Val-9Ala polymorphism and breast cancer risk and to investigate the interaction with menopausal status by meta-analysis. Methods Such databases as The Cochrane Libtary (Issue1, 2010), Pubmed, CBM, CNKI and WanFang Data were searched from the date of their establishment to October, 2010, and the case-control studies of MnSOD Val-9Ala polymorphism and breast cancer risk were collected according to the inclusion and exclusion criteria. Then the quality of the included trials was assessed and meta-analysis was performed by RevMan 4.2.10 software. Results A total of 14 studies involving 17 842 patients were included. The results of meta-analyses showed no significant relation between MnSOD Val-9Ala polymorphism and the breast cancer susceptibility (Val/Ala vs. Val/Val: OR=1.04, 95%CI 0.93 to 1.17; Ala/Ala vs. Val/Val: OR=1.12, 95%CI 0.95 to 1.33; Ala/Ala vs. Val/Ala+Val/Val: OR=1.06, 95%CI 0.93 to 1.20; Val/Ala+ Ala/Ala vs. Val/Val: OR=1.06, 95%CI 0.94 to 1.10). However, in the subgroup analysis, the breast cancer risk significantly increased for premenopausal women (Val/Ala+Ala/Ala vs. Val/Val: OR=1.15, 95%CI 1.01 to1.31). Conclusion This meta-analysis suggests that the MnSOD Val-9Ala polymorphism is not significantly associated with the breast cancer susceptibility, but it may increase the risk of breast cancer in the presence of menopausal state.