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 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 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 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.
ObjectiveTo systematically review the association between the insertion/deletion (I/D) polymorphism of angiotension-converting enzyme (ACE) gene and the athletes' performance in endurance sports. MethodsDatabases including PubMed, EMbase, CNKI, CBM, VIP, and WanFang Data were searched up to August 1st, 2015 to collect case-control studies about the association between ACE I/D polymorphism and the athletes' performance in endurance sports. Two reviewers independently screened literature, extracted data and assessed the risk of bias of included studies. Then, meta-analysis was performed using RevMan 5.3 software. ResultsA total of 37 case-control studies involving 3 032 athletes and 10 857 controls were included. The results of meta-analysis showed that significant association was found between ACE I/D polymorphism and the athletes' performance in endurance sports (DD+DI vs. Ⅱ: OR=0.75, 95%CI 0.67 to 0.83, P<0.01; DD vs. Ⅱ: OR=0.73, 95%CI 0.61 to 0.87, P<0.01; DI vs. Ⅱ: OR=0.74, 95%CI 0.66 to 0.83, P<0.01; D vs. Ⅰ: OR=0.85, 95%CI 0.77 to 0.94, P<0.01). Specifically, the ACE I/D polymorphism was significantly associated with the performance of male athletes in endurance sports (DD+DI vs. Ⅱ: OR=0.73, 95%CI 0.61 to 0.88, P<0.01; DD vs. Ⅱ: OR=0.75, 95%CI 0.60 to 0.93, P=0.01; DI vs. Ⅱ: OR=0.70, 95%CI 0.60 to 0.93, P<0.01; D vs. Ⅰ: OR=0.87, 95%CI 0.77 to 0.97, P=0.01). Subgroup analysis of ethnicity showed that, in Caucasians, except for genetic model DD vs. DI+Ⅱ, the other 4 genetic models were significantly associated with the athletes' performance in endurance sports (DD+DI vs. Ⅱ: OR=0.74, 95%CI 0.65 to 0.84, P<0.01; DD vs. Ⅱ: OR=0.72, 95%CI 0.58 to 0.90, P<0.01; DI vs. Ⅱ: OR=0.73, 95%CI 0.64 to 0.84, P<0.01; D vs. Ⅰ: OR=0.87, 95%CI 0.81 to 0.94, P<0.01); in Africans, significant associations with the athletes' performance in endurance sports were found in genetic model DD vs. DI+Ⅱ (OR=0.75, 95%CI 0.57 to 0.98, P=0.04), genetic model DD vs. Ⅱ (OR=0.62, 95%CI 0.42 to 0.92, P=0.02), and genetic model D vs. Ⅰ (OR=0.80, 95%CI 0.66 to 0.96, P=0.02); in Asians, no significant association was found between ACE I/D polymorphism and the performance of athletes of difference races in endurance sports. ConclusionCurrent evidence indicates that the ACE I/D polymorphism may be associated with the performance of athletes especially male athletes and the Caucasian subgroup in endurance sports. ACE allele D is negatively associated with the athletes' performance in endurance sports, while allele I is positively associated with the athletes' performance in endurance sports. Due to the quality limitations of included studies, more high quality case-control or cohort studies are needed to verify the above conclusions.
ObjectiveTo investigate the correlation of X-ray repair cross-complementing gene 1 (XRCC1-Arg399Gln, Arg280His, and Arg194Trp) polymorphisms and susceptibility to gastric cancer. MethodsOne hundred and twenty patients with gastric cancer were included in study group, 120 healthy volunteers were included in control group. The DNA was extracted from peripheral blood. Arg399Gln, Arg280His, and Arg194Trp gene polymorphisms were detected and analyzed using polymerase chain reaction-restriction fragment length polymorphism technique, and the susceptibility between different genotypes and gastric cancer was compared in two groups. ResultsThe age, gender, smoking, drinking, diet, and other common characteristics of exposure factors had no significant differences in two groups (P > 0.05). The mutation locus genotype frequencies of Arg399Gln and Arg280His had no significant differences between two groups (P > 0.05). However, the mutation locus genotype frequencies of Arg/Trp, Trp/Trp, and Arg/Trp+Trp/Trp were higher and the mutation locus genotype frequency of Arg/Arg was lower in the study group as compared with the control group (P < 0.05). ConclusionThe preliminary results from this study shows that XRCC1 Arg399Gln and Arg280His polymorphisms are not correlated with susceptibility to gastric cancer; However, Arg194Trp polymorphism is correlated with susceptibility to gastric cancer.
Objectives To study the relationships between methylenetetrahydrofolate reductase(MTHFR ) gene polymorphism and diabetic retinopathy (DR) in Chinese Han race． Methods With polymerase chain reaction and restriction fragment length polymorphism (PCR-FLP), MTHFR gene 677 T mutation (cytosine is replaced by thymine in No. 677 site) was detected in 85 health controls, 62 with DR and 117 without DR of type 2 diabetics comfrimed by ophthalmoscope． Results The frequency of MTHFR variant genotypes and alleles of DR in Chinese Han race．patients were signigicantly higher than those without retinopathy and healthy controls (Plt;0．01)． Conclusions The results suggested that MTHFRgene C677T mutation was probably one of the genetic risk factors of diabetic retinopathy in Chinese Han rase． (Chin J Ocul Fundus Dis, 2001,17:198-200