Influence of fibrinogen beta-chain gene variations on risk of myocardial infarction in a Chinese Han population / 中华医学杂志(英文版)

<p><b>BACKGROUND</b>Although the role of fibrinogen as a predictor of acute myocardial infarction (MI) has been well-established, the association of genetic polymorphisms in the fibrinogen gene with MI is still controversial. This study was conducted to elucidate the association between the genetic polymorphisms of the fibrinogen beta-chain (FGB) gene and MI in Chinese Han population.</p><p><b>METHODS</b>The occurrence of 3 common polymorphisms (i.e., -455G/A, R448K and 8558C/G) in a case-control study including 508 patients with MI and 503 healthy controls was investigated. Results Analyses of single polymorphisms showed that individuals carrying the rare alleles for the 3 polymorphisms were significantly associated with a decreased risk of MI. Logistic regression analysis indicated that R448K remained independently associated with MI after adjustment for environmental risk factors (adjusted odds ratio(OR) = 0.71 for KK/RK versus RR, P = 0.023). The three polymorphisms were found to be in strong linkage disequilibrium. Haplotype analyses showed that the A-K-G haplotype (-455A, 448K, 8558G) was associated with a protective effect against MI. Compared with the common haplotype G-R-C, the adjusted OR for A-K-G was 0.68 (95% CI, 0.51-0.90; P = 0.006).</p><p><b>CONCLUSION</b>These data indicate that individuals carrying the FGB 448K allele may be protective against having MI in this population.</p>

Relationship between cystathionine gamma-lyase gene polymorphism and essential hypertension in Northern Chinese Han population / 中华医学杂志(英文版)

<p><b>BACKGROUND</b>Hydrogen sulfide (H(2)S) plays an important role in the smooth muscle cell relaxation and thereby participates in the development of hypertension. Cystathionine gamma-lyase is the key enzyme in the endogenous production of H(2)S. Up to now, the reports on the relationship between the polymorphisms of cystathionine gamma-lyase gene (CTH) and essential hypertension (EH) are limited. This study was designed to assess their underlying relationship.</p><p><b>METHODS</b>A total of 503 hypertensive patients and 490 age-, gender- and area-matched normotensive controls were enrolled in this study. Based on the FASTSNP, a web server to identify putative functional single nucleotide polymorphisms (SNPs) of genes, we selected two SNPs, rs482843 and rs1021737, in the CTH gene for genotyping. Genotyping was performed by the polymerase chain reaction and restriction fragment length polymorphism method (PCR-RFLP). The frequencies of the alleles and genotypes between cases and controls were compared by the chi-square test. The program Haplo. stats was used to investigate the relationship between the haplotypes and EH.</p><p><b>RESULTS</b>These two SNPs were in Hardy-Weinberg Equilibrium in both cases and controls. The genotype distribution and allele frequencies of them did not significantly differ between cases and controls (all P > 0.05). In the stepwise logistic regression analysis we failed to observe their association with hypertension. In addition, none of the four estimated haplotypes or diplotypes significantly increased or decreased the risk of hypertension before or after adjustment for several known risk factors.</p><p><b>CONCLUSIONS</b>The present study suggests that the SNPs rs482843 and rs1021737 of the CTH gene were not associated with essential hypertension in the Northern Chinese Han population. However, replications in other populations and further functional studies are still necessary to clarify the role of the CTH gene in the pathogenesis of EH.</p>

Association of the apolipoprotein B gene polymorphisms with essential hypertension in Northern Chinese Han population / 生物医学与环境科学（英文）

<p><b>OBJECTIVE</b>To study the association of the apolipoprotein B gene polymorphisms with essential hypertension in Northern Chinese Han population.</p><p><b>METHODS</b>XbaI and EcoRI polymorphisms of the apolipoprotein B (APOB) gene were genotyped by polymerase chain reaction (PCR) and restriction fragment-length polymorphism (RFLP) method in 503 unrelated hypertensive patients and 490 healthy controls recruited from international collaborative study of cardiovascular disease in Asia (InterAsia).</p><p><b>RESULTS</b>The difference in the genotypic distributions could be neglected across the groups. The prevalence of X+ allele in healthy controls (4.8%) was less frequent in Chinese, and there was no significant difference in the frequency of the X+ allele between cases (5.7%) and controls (P = 0.38). The observed E- allele frequencies were closely similar among groups (5.9% in cases vs 5.0% in controls, P = 0.39). Logitstic regression analyses revealed that the lack of association still persisted after adjustment of other environmental factors. Haplotype analysis showed that X-E+ was most frequent and no haplotype could significantly contribute to essential hypertension.</p><p><b>CONCLUSION</b>The APOB gene XbaI and EcoRI polymorphisms are not associated with essential hypertension in the Northern Chinese Han population. Future studies on single nucleotide polymorphisms in larger samples are needed to further investigate the possible contribution of the APOB gene to essential hypertension.</p>

The study of genome DNA methylation in rheumatoid arthritis / 中华风湿病学杂志

Objective To study the genome DNA methylation in rheumatoid arthirits(RA)and the re- lated factors of DNA methylation.Methods Twenty-first cases with RA and 20 controls were recruited to par- ticipate the study.Plasma Hcy,SAM,SAH,the MTHFR gene C677T polymorphism and the expression of LFA-1 in CD4~+T cells was measured in all patients and controls.Results①The SAM levels were lower sig- nificantly in RA groups than in controls.The SAH levels were higher significantly in RA groups than in con- trols.②There was significant inverse correlation between plasma Hcy level and SAM level(r=-0.932,P＜0.01). There was significant positive correlation between plasma Hcy level and SAH level(r=0.924,P＜0.01).③The expression of LFA-1 in CD4~+T cells was higher significantly in RA groups than in controls.There was a signif- icant positive correlation between LFA-1 expression level and Hcy level(r=0.557,P＜0.01),a significant in- verse correlation between LFA-1 expression level and SAM level(r=-0.651,P＜0.01).④The MTHFR gene mu- tation lead to dramatically increase of Hcy,SAH level and the expression of LFA-1 level in CD4~+T cells and genome DNA hypomethylation.Conclusion①Hypomethylation of genome DNA is found in most RA pa- tients.②The factors associated with genome DNA hypomethylation include MTHFR gene mutation and hyper- homocysteinemia.③The expression of LFA-1 in CD4~+ T cells is higer in RA groups than in controls,which re- lates to the DNA methylation level and the MTHFR gene C677T polymorphism.