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 reveal the association between the single nucleotide polymorphism (SNP) of v-maf musculoaponeurotic fibrosarcoma oncogene homolog B (MAFB) gene rs17820943 locus and non-syndromic cleft l ip with or without cleft palate (NSCL/P) in the southern Chinese Han population. Methods Genotyping of MAFB gene rs17820943 polymorphism was carried out in 300 patients with NSCL/P, 354 normal controls, and an additional 168 case-parent trios with matrix-assisted laser desorption/ionisation time-of-fl ight (MALDI-TOF) mass spectrometry. Then based on the genotypingresults, both a case-control association study and a case-parent trio association study were performed. Results Significant differences were found in the allele and genotype frequencies of rs17820943 locus between case and control groups (Pallele=0.001 and Pgenotype=0.002, respectively). To be specific, the odds radio (OR) values and 95% confidence interval (95%CI) of allele T (frequencies of cases ∶ controls = 0.358 ∶ 0.448) and genotype TT (frequencies of cases ∶ controls = 0.110 ∶ 0.195) were ORT = 0.69 (95%CI: 0.55-0.86) and ORTT = 0.43 (95%CI: 0.26-0.70), respectively. Subsequent case-parent trio analysis also indicated an association between MAFB rs17820943 variant and the risk of NSCL/P (ORT vs. C = 0.55, 95%CI: 0.41-0.75, P value of transmission disequilibrium test was 0.000). Conclusion Polymorphism of MAFB gene rs17820943 locus is associated with NSCL/P in the southern Chinese Han population; MAFB rs17820943 variant may be a susceptible gene of NSCL/P.
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.
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.
Pain, as a complex physiological and pathological phenomenon, has always been a hot topic in medical research in terms of its mechanism of occurrence and influencing factors. Vitamin D, as a fat soluble vitamin, has been shown to be closely associated with pain in recent years, in addition to its classic role in regulating calcium and phosphorus metabolism. The polymorphism of the vitamin D receptor (VDR) gene can lead to changes in the structure and function of VDR, thereby affecting vitamin D levels. Meanwhile, VDR gene polymorphism can indirectly or directly participate in the occurrence and development of pain. This article aims to review the research on the relationship between vitamin D and its receptor gene polymorphism and pain, and provide reference for potential therapeutic targets and personalized intervention strategies for pain.
Objective To systematically evaluate anti-platelet effect of clopidogrel influenced by CYP2C192,3 polymorphism in patients with cardiovascular diseases, in order to provide references for its safe medication. Methods Literature was retrieved in electronic databases covering EMbase, PubMed, The Cochrane Library, CBM and CNKI from establishment dates to November, 2011. Observational studies and clinical trials were included, cross-checked, assessed and pooled for meta-analysis. meta-analysis was performed using the software RevMan 5.1. Results A total of 13 articles including 14 trials (n=36 855) were included. The results of meta-analysis showed that: a) there was no significant difference in the incidences of cardiovascular events between CYP2C192,3 carriers and CYP2C191 carriers; b) the risk of stent thrombosis in CYP2C192,3 carriers was significantly higher than that in CYP2C191 carriers (Plt;0.000 1), and the relative risk of CYP2C192,3 carriers increased 92% within one month (Plt;0.000 1); c) as for bleeding events, there were no significant differences between CYP2C192,3 carriers and CYP2C191 carriers. Conclusion Compared with CYP2C191 carriers, CYP2C192,3 carriers have a higher risk of stent thrombosis in clopidogrel-treated patients, but there are few differences in cardiovascular and bleeding events between the two carriers. Therefore, CYP2C192,3 carriers with cardiovascular diseases and ready to receive PCT are suggested to pay more attention to stent thrombosis when using clopidogrel. We propose that patients with cardiovascular diseases and ready to receive PCT should have CYP2C19 tests to determine the use of antiplatelet drug (clopidogrel) to avoid thrombus.
Objective To review the research progress of bone morphogenetic protein (BMP) and the liability of ossification of the posterior longitudinal ligament (OPLL). Methods Recent literature concerning BMP and the liability of OPLL was reviewed, analysed, and summarized. Results The single nucleotide polymorphisms (SNPs) of BMP gene may produce a minor cumulative effect and increase individual susceptibility to OPLL. A variety of environmental factors can promote the occurrence and development of OPLL by increasing the expression of BMP gene. Conclusion The SNPs of BMP gene may increase individual susceptibility to OPLL. However, interaction of cumulative effect of the SNPs and environmental factors can promote the liability to OPLL.
Cardiovascular disease has been a major threat to human’s health and lives for many years. It is of great importance to explore the mechanisms and develop strategies to prevent the pathogenesis. Generally, cardiovascular disease is associated with endothelial dysfunction, which is closely related to the nitric oxide (NO)mediated vasodilatation. The release of NO is regulated by NOS3 gene in mammals’ vascular system. A great deal of evidences have shown that the polymorphism and epigenetic of NOS3 gene play vital roles in the pathological process of cardiovascular disease. To gain insights into the role of NOS3 in the cardiovascular diseases, we reviewed the molecular mechanisms underlying the development of cardiovascular diseases in this paper, including the uncoupling of NOS3 protein, epigenetic and polymorphism of NOS3 gene. The review can also offer possible strategies to prevent and treat cardiovascular diseases.
ObjectiveTo explore the association between single nucleotide polymorphism (SNP) in the X-ray cross complementary repair gene-1 (XRCC1) rs1799782 locus and thyroid cancer.MethodsStudies investigating the association between SNP in the XRCC1 gene and thyroid cancer susceptibility were retrieved from the PubMed, Embase, Web of Science, CNKI (Chinese National Knowledge Infrastructure), Wanfang, and CBM (China Biology Medicine) databases (published date up to February 15, 2021). Eligible studies were screened according to inclusion/exclusion criteria and principles of quality evaluation. Meta-analysis was performed using Stata 14.0 software. Odds ratios with their corresponding 95% confidence intervals (95%CI) were pooled to assess the association between SNP in the XRCC1 gene rs1799782 locus and thyroid cancer susceptibility.ResultsTwelve articles were eligible for this meta-analysis. Meta-analysis results were shown as follows: No significant association was found between XRCC1 rs1799782 polymorphism and thyroid cancer in overall population [Dominant model: CT+TT vs CC, OR=1.07, 95%CI (0.84, 1.36). Recessive model: TT vs CT+CC, OR=1.48, 95%CI (0.95, 2.31). Allelic model: T vs C, OR=1.15, 95%CI (0.93, 1.43). Codominant model: TT vs CC: OR=1.44, 95%CI (0.83, 2.53); CT vs CC, OR=1.02, 95%CI (0.82, 1.28); TT vs CT, OR=1.40, 95%CI (0.98, 1.99)]. rs1799782 polymorphism was significantly associated with the risk of thyroid cancer in Chinese population [Dominant model: CT+TT vs CC, OR=1.38, 95%CI (1.11, 1.71). Recessive model : TT vs CT+CC, OR=1.97, 95%CI (1.55, 2.50); Allelic model: T vs C, OR=1.40, 95%CI (1.16, 1.68). Codominant model: TT vs CC, OR=2.12, 95%CI (1.66, 2.71); CT vs CC, OR=1.26, 95%CI (1.09, 1.47); TT vs CT, OR=1.70, 95%CI (1.31, 2.21)]. rs1799782 polymorphism was significantly associated with the risk of thyroid cancer in Asian population [Dominant model: CT+TT vs CC, OR=0.64, 95%CI (0.49, 0.83). Codominant model: TT vs CC: OR=0.50, 95%CI (0.33, 0.74); CT vs CC, OR=0.65, 95%CI (0.49, 0.86)].ConclusionsThere is no significant correlation between XRCC1 rs1799782 polymorphism and the risk of thyroid cancer in general population. The XRCC1 rs1799782 polymorphism may be associated with an increased thyroid cancer risk among Chinese, and a tendency for decreased thyroid cancer risk among Asians (Chinese excluded). The XRCC1 rs1799782 polymorphism is not associated with thyroid cancer susceptibility among Caucasians under all genetic models.
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.