Objective To investigate the correlation between retinopathy of prematurity（ROP） susceptibility and +405G/C and 936T/C polymorphism of vascular endothelial growth factor A（VEGF-A）gene. Methods 99 ROP infants（ROP group）and 80 premature infants（control group）were enrolled in this study. There was no difference of gestational age, birth weight and preoxygenation time between the ROP and control group (P＞0.05 ). The peripheral blood was collected, polymorphism genotypes and frequency of VEGF-A+405 and VEGF-A936 were measured by pyrosequencing. Results There are CC, GG, CG genotypes in VEGF-A+405 site, while CC, CT genotypes in VEGF-A 936 site. The VEGF-A+405 gene allele of C, G were 92,106 with the frequencies of 46.5%, 53.5% in the ROP group, and 90, 70 with the frequencies of 56.2%, 43.8% in the control group; the difference between two groups was not statistically significant (chi;2=3.396, P=0.066). There was no correlation between VEGF-A+405 polymorphism and ROP susceptibility (OR=0.675,OR95% CI=0.444, 1.026). The VEGF-A 936 gene allele of C, G were 32,166 with the frequencies of 16.2%, 83.8% in the ROP group, and 16, 144 with the frequencies of 10.0%, 90.0% in the control group; the difference between two groups was not statistically significant (chi;2=2.894, P=0.089). There was no correlation between VEGF-A 936 polymorphism and ROP susceptibility (OR=0.768, OR95% CI=0.711, 0.829). Conclusion There is no correlation between VEGF-A+405 or VEGF-A 936 polymorphism and ROP susceptibility.
Objective To investigate the relationship between p53 codon 72 polymorphism and susceptibility to keloid. Methods The p53 genotypes were detected by polymerase chain reactionreverse dot blot(PCRRDB) and DNA direct sequencing among 15 healthy controls and 15 patients with keloid. Results The frequency of the Proallele(P=0.035) and Pro/Pro genotype(P=0.030) in patients was significantly higher than that in the controlls. There was no significant difference in the frequency of Pro/Arg and Arg/Arg genotypes between patients and controls. Conclusion The p53 gene codon 72 polymorphism may play a role in susceptibility to keloid.
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 comprehensively evaluate the association between TNF-α gene −308 G/A polymorphism and the risk of prostate cancer. Methods A meta-analysis was performed to analyze the association between −308 G/A polymorphism and the risk of prostate cancer risk. Results A total of 11 case-control studies (4 919 cases and 5 210 controls) were included in this meta-analysis. The result showed no statistically significant differences in all genotype distribution between prostate cancer cases and controls: dominant model (OR=1.11, 95%CI 0.90 to 1.36, P=0.33), recessive model (OR=0.91, 95%CI 0.70 to 1.18, P=0.47), GA versus GG (OR=1.11, 95%CI 0.90 to 1.37, P=0.33), AA versus GG (OR=0.92, 95%CI 0.71 to 1.20, P=0.55), A versus G (OR=1.07, 95%CI 0.91 to 1.26, P=0.39). In the subgroup analysis by ethnicity, no statistically differences were found between prostate cancer cases and controls. Conclusion This results of meta-analysis suggests that TNF-α gene –308G/A polymorphism may not be a risk factor of prostate cancer. Due to the limited quantity of the includied studies, further studies are needed to validate the above conclusion.
Objective To observe the relationship between endothelial constitutive nitric oxide synthase (ecNOS) genetic polymorphism and diabetic retinopathy（DR）of non insulindependent diabetes mellitus (NIDDM) patients of the Han nationality.Methods A total of 166 patients who clinical diagnosed with NIDDM as case group, 85 cases of patients (cataract or fracture) and healthy subjects without diabetes, hypertension and kidney disease,over 40 years old of age and without consanguinity between each other were selected as normal control group. Case group were divided into non-DR (NDR) group, nonproliferative-DR (BDR) group and proliferativeDR (PDR) group according to the result of fundus fluorescein angiography. Case group and normal control group subjects all were Han nationality. DNA was extracted from peripheral venous blood; the fourth 27 base pairs (bp) repeat polymorphism of ecNOS gene by was measured by polymerase chain reaction (PCR). Results The 27 bp repeat sequences within the ecNOS gene present in the Han nationality,allele b repeat 5 times, alleles a repeat 4 times. PCR results showed that there are 2 alleles and 3 genotypes in normal control, NDR, BDR and PDR group. The frequency of genotype bb、ab、aa were 80%, 16.5%, 3.5% in normal subjects; 77.2％, 13.9%, 8.9％ in NDR group; 80.5％, 17.1%,2.4％ in BDR group;78.3％, 13%, 8.7％ in PDR group,respectively. The allele frequency (chi;2 =1.841) and gene frequency (chi;2=3.847) were not statistically significant (P＞0.5) in normal control,NDR,BDR and PDR group. Logistic regression analysis showed that there is no relation between DR and ecNOS duplicated gene polymorphism. Conclusions There is 27 bp repeated polymorphism in 4th intron of ecNOS gene, which may not be associated with the DR of NIDDM in the Han nationality.
Objective To investigate the relationship between diabetic retinopathy (DR) and insertion/deletion (a/b) polymorphism of a 27 base pair variable number tandem repeat (VNTR) in intron 4 of the endothelial nitric oxide synthase (eNOS) gene. Methods 321 patients of type 2 diabetes mellitus with over 10 years duration (case group) and 146 normal subjects (control group) were enrolled in this study. All the clients are Han Chinese. The case group was divided into DR subgroup (154 patients) and non-DR (NDR) subgroup (167 patients) according to the results of indirect ophthalmoscope and fundus fluorescent angiography. The VNTR polymorphism in eNOS gene was determined by polymerase chain reaction (PCR) combined with 8% agarose gel electrophoresis. Then the b, a allele frequency and b/b, a/a, b/a allele frequency of two groups were compared, and its correlation with diseases were analyzed. Results The b allele frequency of the VNTR in intron 4 of eNOS gene in the DR group was significantly higher than that in the NDR group（chi;2=4.745，P=0.029；OR=1.685，95%CI=1.050-3.905）and control group（chi;2=6.958，P=0.008；OR=1.891，95%CI=1.172-4.437）; b/b allele frequency in the DR group was also significantly higher than that in the NDR group（chi;2=4.811，P=0.028；OR=1.790，95%CI=1.060-4.645）and control group（chi;2= 5.203，P=0.023；OR=1.859，95%CI=1.087-4.952）. Conclusions The b allele and b/b genotype in intron 4 of eNOS gene in the Han Chinese are closely related to DR.
Objective To investigate the relationship between single nucleotide polymorphism (SNP) and therapy response of some conventional chemotherapy drugs in breast cancer, and to explore the value of SNP in guiding individualized treatment. Methods Pub-Medline and Chinese CHKD periodical electronic databases were searched. Representative researches in this field were sorted out and concluded. Results Varied genes related to drug metabolism have SNP phenomenon, which are closely associated with interindividual diversity in drug response. Race, section, environment, and drug-drug or gene-gene interactions may have effect on the association.Conclusion The study on SNP has important application prospect in optimizing the individual drug-delivery. However, the combinatorial analyses of multi-SNPs and multi-genes and the prospective studies with large-scale samples and random controls are still needed.
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.
ObjectiveTo evaluate anti-platelet effect of clopidogrel influenced by CYP2C19*17 polymorphism in patients with cardiovascular disease. MethodsWe electronically searched EMbase, PubMed, The Cochrane Library, ClinicalTrials.gov, CNKI, CBM, WanFang Data and VIP databases for cohort studies about the anti-platelet effect of clopidogrel influenced by CYP2C19*17 polymorphism in patients with cardiovascular disease from inception to October 2012. 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 the software Rev-Man 5.2. ResultsA total of seven studies involving 12 116 patients were finally included. Three were 5 579 CYP2C19*17 carriers and 6 538 non-carriers. The results of meta-analyses showed that, compared with the CYP2C19*17 non-carriers, lower rate of cardiovascular events (OR=0.85, 95%CI 0.73 to 0.99, P=0.03) and higher bleeding events (OR=1.25, 95%CI 1.05 to 1.50, P=0.01) were found in the CYP2C19*17 carriers. ConclusionCYP2C19*17 carriers is with lower cardiovascular events and higher bleeding events than the CYP2C19*17 non-carriers.
ObjectiveTo investigate the relationship between the G196A and C270T polymorphism and epilepsy.MethodsDatabase including PubMed, EMbase, the Cochrane Library, CNKI and Wan fang data were retrieved upto September, 2017 to collect the case-control study concerning BDNF two polymorphisms G196A/C270T and epilepsy. Two reviewers independently screened the literature, extracted the data, and assessed the quality of methodology. Then Meta-analysis was performed using RevMan 5.2 software.Results①A total of 9 studies were included in the Meta-analysis between BDNF G196A and epilepsy. The studies included 1841 epilepsy patients and 6467 healthy control subjects. The G allele increase the risk of epilepsy[OR=1.13, 95%CI (1.06–1.21), P=0.0001]. When stratified by Asian and western subgroup, a similar trend of associated was detected with Asian epilepsy patients [OR=1.13, 95%CI (1.05–1.20), P=0.0004]. When stratified by epilepsy type, the G allele increase the risk of temporal lobe epilepsy [OR=1.18, 95%CI (1.04–1.34), P=0.008]. ② The Meta-analysis between BDNF C270T and epilepsy included 4 studies, 594 epilepsy patients and 738 healthy control subjects. The result suggested the frequency of the CT genotype and of the C270T T allele was not associated with epilepsy.ConclusionsBDNF G196A polymorphism is a susceptibility locus for temporal lobe epilepsy and Asian epilepsy patients.