Single neucleotide polymorphisms of the vascular endothelial growth factor gene in Chinese Han population
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ObjectiveTo determine the distribution of the single neucleutide polymorphisms (SNPs) of the vascular endothelial growth factor (VEGF) gene in Chinese Han population. Methods252 healthy Chinese Han subjects were studied with PCR technique. The results were compared with the data on European Caucasians reported. ResultsThe frequencies of VEGF gene allele C and A were respectively 71.8% and 28.2%. The genotypes of CC, CA and AA were 48.8%, 46.0% and 5.2%, respectively. The frequencies of VEGF promoter 2578A/A polymorphism in Chinese Han population were significantly different from those in European Caucasian population( P 0.01). Conclusion2578A/A homozygote which results to low VEGF expression of Chinese Han subjects is remarkably less than that of European Caucasians.Keywords:
Chinese population
Han Chinese
Chinese people
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Aim To investigate the relationship between adiponectin gene polymorphisms and the occurrence of atherosclerotic cerebral infarction(ACI),blood pressure as well as the lipid concentrations in Chinese Han population of Hunan area.Methods 163 healthy individuals and 161 ACI patients were recruited in this study.The genotypes of adiponectin were detected with polymerase chain reaction(PCR) and digested by specific restriction enzymes.Results Adiponectin polymorphisms existed in Chinese Han population of Hunan area,with the allele frequencies 0.783/0.217 for 45T/G in the whole study population,and 0.697/0.303 for 276G/T,respectively.There was no significant difference of genotype and allele frequency between ACI patients and controls for 45T/G polymorphisms(P0.05).However,the frequency of T allele and TT genotype in adiponectin 276G/T polymorphisms were significantly higher in ACI group compared with that in control group(P0.05).Also,T allele carriers had a significantly higher level of triglyceride(TG) than subjects with GG genotype.Conclusions 45T/G polymorphism of adiponectin might has no significant correlation with ACI in Chinese Han population of Hunan area,whereas 276G/T polymorphism might be associated with the development of ACI through a participation in the lipid metabolism.
Gene polymorphism
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Nitric oxide (NO) synthesized by endothelial nitric oxide synthase (eNOS) plays an important role in both the regulation of endothelial function and the control of blood pressure. Up to now, there has been conflicting data regarding the association between three clinically relevant polymorphisms (T-786C, intron4b/a and G894T) of the eNOS gene and essential hypertension.To examine the contribution of the three eNOS gene polymorphisms to the development of hypertension in the northern Han Chinese, a case-control study including 503 hypertensive cases and 490 age-, gender-, and area-matched controls recruited from the International Collaborative Study of Cardiovascular Disease in Asia (InterASIA) was conducted. Genotyping was performed by polymerase chain reaction (PCR) or PCR-restriction fragment length polymorphism (RFLP).The T-786C and intron4b/a polymorphisms were observed in significant linkage disequilibrium (D' = 0.87, P < 0.001). The minor allele frequencies of these three polymorphisms in healthy controls were much lower than those of Caucasians (9.3% vs 39.6% - 42.0%, 8.9% vs 15.0% - 16.0% and 10.9% vs 34.5% - 34.9% for -786C, intron4a and 894T, respectively). Genotype distributions and allele frequencies of the three polymorphisms did not differ between cases and controls (all P > 0.05). In addition, none of the eight estimated haplotypes significantly increased or decreased the risk of hypertension before or after adjustment for several known risk factors.The study results suggest that the three eNOS gene polymorphisms are unlikely to be major genetic susceptibility factors for essential hypertension in the northern Han Chinese population.
Essential hypertension
Linkage Disequilibrium
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Objective To investigate the relationship of the PDE4D gene SNP83 polymor-phisms with ischemic cerebrovascular diseases(ICVD) between Uygur and Han population in Xinjiang.Methods two hundred and seven ICVD patients(98Hans,109Uygurs) and 216 healthy controls(99Hans,110 Uygurs) were recruited in xinjiang.The polymorphisms of the PDE4D gene were determined by using the PCR-restriction fragment length polymorphism technique.The case-control analysis was used to analyze the frequencies of genotypes and alleles.Results There were statistical differences in the distribution of genotypes and allele frequency of PDE4D gene between ICVD group and control group(P 0.05).The frequencies of CC genotype and C allele in Han patients were higher than those in Han controls(P 0.05).The frequencies of genotypes and alleles of the PDE4D gene in male patients were higher than those in male controls(P 0.05),and the male individual carrying the C allele had a notably increasing occurrence of ICVD(OR = 6.486,P 0.05).Conclusion PDE4D gene SNP 83 polymorphisms are statistically different between Chinese XinJiang Uygur and Han population.The association of PDE4D gene SNP83 polymorphisms with risk of ICVD is significant in Han population,male or patients with the history of hypertension.
SNP
Han Chinese
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Objective:To investigate the correlation of polymorphisms rs744166 and rs2293152 in signal transducer and activator of transcription 3 gene(STAT3) with Crohn′s disease(CD) in Chinese Han population.Methods:A total of232 Chinese Han patients with CD and 272 healthy controls were enrolled.The single nucleotide polymorphisms(SNPs) of STAT3 were detected by SSP-PCR(sequence specific primers-polymerase chain reaction),their statistical differences were analyzed.Results:Both the distributions of rs744166 and rs2293152 genotypes in CD and control groups were in accordance with Hardy-Weinberg equilibrium.The genotype and allele distribution of STAT3 rs744166 polymorphism differed statistically between CD group and controls(P0.05).Meanwhile,there was no statistical difference in frequencies of allele and genotype at rs2293152 in STAT3 between patients and controls(P 0.05).Conclusions:The STAT3rs744166 polymorphism correlates with the susceptibility of CD in Chinese Han population.
Genotype frequency
Gene polymorphism
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Objective To investigate the vascular endothelial growth factor(VEGF) gene variations in the promoter region in Chinese Han population.Methods The polymorphisms of 300 Chinese Han healthy individuals from Northern China were analyzed using the method of polymerase chain reaction-restriction fragment length polymorphism(PCR-RFLP) or direct sequencing.The commercial statistics package SPPS11.5 was used to compare the distribution of the allele and the genotype,and to analyze their correlations with the data on European reported.Results Significant differences were observed between European and Chinese Han healthy individuals with regards to the frequencies of the genotype and allele for-2578C/A and-1154G/A(P 0.01) Conclusion The frequency of-2578A/A,-1154G/G genotypes in Chinese Han population is significantly lower than that in European.
Han Chinese
Chinese population
European population
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Objective To investigate the distribution of polymorphisms of the variable number of tandem repeats (VNTR) at intron 2 of interleukin-1 receptor antagonist (IL-1RA) gene in Chinese three Han populations and relationship with pathogenesis of cervical cancer. Methods The specific fragments were amplified by polymerase chain reaction (PCR) and were detected by running the amplicons on 2% agarose gel for 206 healthy subjects from Xinjiang, Fujian, Sichuan province and 42 patients with cervical cancer and 45 normal controls. Results A_1/A_1 and A_1/A_2 were the common genotypes in Chinese three Han populations. A_1 was the most frequent one and A_2 the second, there was no difference among Chinese three Han populations (P0.05). Compared with American and England Caucasians, the frequency of A_1 in Chinese three Han populations was higher, while A_2 lower, which was similar with Black South African. No difference was observed between the cervical cancer groups and the controls with respect to both the allele and genotype frequency of the IL-1RA gene polymorphisms. Conclusion IL-1RA intron 2 VNTR gene polymorphism were different in different ethnic populations, and might not be associated with cervical cancer in Chinese Northeast district.
Amplicon
Gene polymorphism
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Background:Crohn's disease(CD) is a complex polygenic disease,and its etiology and pathogenesis are not completely clear.A recent study showed that there was a positive correlation between rs10883365 genetic variant in upstream region of NKX2-3 gene and CD in Japanese patients.Aims:To analyze the correlation of rs10883365 polymorphism with CD in Chinese Han population.Methods:A total of 66 Chinese Han patients with CD and 66 healthy controls were examined.PCR-RFLP was used to genotype rs10883365 polymorphism,and the PCR products of restriction fragment were analyzed by gene sequencing.The genotype and allele frequencies between the two groups were compared. Results:The frequencies of GG,AG and AA genotypes of rs10883365 were 28.8%,47.0%and 24.2%,respectively in CD group,while 27.3%,48.5%and 24.2%,respectively in healthy control group.The frequencies of G and A allele were 52.3%and 47.7%,respectively in CD group,while 51.5%and 48.5%,respectively in healthy control group.There were no significant differences between the two groups(P0.05).Conclusions:Polymorphism of rs10883365 in upstream region of NKX2-3 gene has no obvious correlation with CD in Chinese Han population.
Pathogenesis
Chinese population
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Objective:To investigate the association of a single nucleotide polymorphism(SNP),rs7574865 GT,of the signal transducer and activator of transcription 4(STAT4) with Crohn's disease(CD) in the Chinese Han population.Methods: Genomic DNA from 636 individuals of Chinese Han origin including 318 patients with CD and 318 healthy controls was analyzed for the SNP(rs7574865) of the STAT4 gene.SNP rs7574865 GT was genotyped by polymerase chain reaction and direct sequencing.A Chi-square test was used to determine the association of SNP with CD.Results: The frequencies of genotypes GG,TG and TT at SNP rs7574865 GT were 0.110,0.431 and 0.459 in CD patients,while 0.097,0.450 and 0.453 in healthy controls.The frequency of G or T allele was 0.325 or 0.675,respectively in CD patients,while 0.322 or 0.678 in healthy controls.Conclusion: These findings indicate that no significant difference is observed between STAT4 polymorphism and Crohn's disease in the Chinese Han population.
STAT4
SNP
Genotype frequency
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Objective To investigate the association of tumor necrosis factor-α(TNF-α) gene polymorphisms at position-863,-857,-238 with Graves' disease(GD) among Han Chinese in Anhui province.Methods The genotype and allele frequencies of TNF-α gene at position-863,-857,-238 were measured and compared in 254 patients with GD and 212 normal controls by polymerase chain reaction-sequence specific primers(PCR-ssp) method.Results The A allele frequency(16.73%) of-863 locus in GD group was significantly higher than that(11.79%) in normal control group(P0.05,OR=1.503);the frequency of AA+CA genotype(32.68%) of-863 locus in GD group was significantly higher than that(23.58%) in normal control group(P0.05,OR=1.573).The genotype and allele frequencies of TNF-α at position-857,-238 had no significant difference between two groups.There were no significant difference(P0.05) of the frequencies distribution of allele and genotype of-863,-857,-238 loci between male and female patients with GD.Conclusion The gene polymorphism of TNF-α at position-863 is related with GD susceptibility in Han Chinese population in Anhui region,but at position-857 and-238 are not.
Genotype frequency
Gene polymorphism
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ErbB3 is a member of the epidermal growth factor receptor (EGFR/ERBB) family of receptor tyrosine kinases. Recent research has shown that amplification of this gene is related to prostate, bladder and breast cancers, as well as low-density lipoprotein cholesterol (LDL-C) metabolism. LDL-C plays a considerable role in the development of cardiovascular disease. Thus, the present study assessed the association between human ErbB3 gene polymorphisms and coronary artery disease (CAD) in Han and Uygur populationsin China.We performed two independent case-control studies with a Han population (339 CAD patients and 395 control subjects) and a Uygur population (306 CAD patients and 325 control subjects). All of the CAD patients and controls were genotyped for the same three single nucleotide polymorphisms (rs877636, rs705708, and rs10783779) in the ErbB3 gene by real-time PCR.In the Han population, rs877636 polymorphisms were associated with CAD on the basis of the genotypes, dominant model, additive model, and allele frequency (for genotypes: P = 0.008; for dominant model: P = 0.003; for additive model: P = 0.004; for allele: P = 0.008), and these significant difference was retained (all P < 0.05) after adjusting for the major confounding factors.The CT genotype and C allele of rs877636 in the ErbB3 gene could be a genetic marker of CAD risk for the Han population in China.
ERBB3
ErbB
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