Background Calpain-10 （CAPNIO） has been identified as a susceptibility gene in type 2 diabetes mellitus （T2DM） and insulin resistance. The present study aimed to identify the effects of genetic variations in the CAPNIO gene on the development of type 2 diabetes and hypertension in northern Han Chinese population. Methods We performed a case-control study and genotyped single nucleotide polymorphism （SNP）-44, -43, -19 and -63 of CAPNIO gene in 1046 subjects from the northern China, including 493 patients with T2DM and hypertension and 553 age- and gender-matched normal healthy controls. Results Univariate analysis showed that the four polymorphisms were not independently associated with T2DM and hypertension. However, the frequency distributions of SNP-44 allele C （allele 2） （17.89% vs 9.80%, P=-0.0016） and genotype CC （22） （4.21% vs 1.01%, P=-0.0059） in obese patients （body mass index 〉 30 kg/m2） were different from those in non-obese patients. Logistic regression analyses revealed that carriers of the 1112/1221 diplotype had a significantly lower odds ratio for diabetes and hypertension （OR=0.399, 95% CI, 0.196-0.814, P=-0.0115）. The 1112/1121 diplotype associated with significantly increased risk of type 2 diabetes in Mexican-American was not associated with the increased risk in Chinese. Conclusion These results suggested that CAPNIO gene variations might play roles in the risk of diabetes and hypertension in northern Han Chinese population.
Background Tumor necrosis factor-induced protein 3 （TNFAIP3） gene has been shown important in cardiac remodeling. The aim of the present study was to investigate whether the variants of TNFAIP3 gene are associated with left ventricular hypertrophy （LVH） in hypertensive patients.Methods Four representatives of all the other single nucleotide polymorphisms （SNPs） in TNFAIP3 gene were tested for association with hypertrophy in two independent hypertensive populations （n=2120 and n=324）.Results We found that only the tag SNP （rs5029939） was consistently lower in the hypertensives with cardiac hypertrophy than in those without cardiac hypertrophy in the two study populations, indicating a protective effect on LVH （odds ratio （OR） （95% confidence interval （CI））0.58 （0.358-0.863）, P=0.035; OR （95% CI）=0.477 （0.225-0.815）, P〈0.05,respectively）. Multiple regression analyses confirmed that the patients with G allele of rs5029939 had less thickness in inter-ventricular septum, left ventricular posterior wall, relative wall thickness and left ventricular mass index than did those with CC allele in the hypertensive patients in both study populations （all P〈0.01）.Conclusion These findings indicate that the SNP （rs5029939） in the TNFAIP3 gene may serve as a novel protective genetic marker for the development of LVH in patients with hypertension
Objective To study the association of the apolipoprotein B gene polymorphisms with essential hypertension in Northern Chinese Han population. Methods XbaI and EcoRl 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）. Results 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. Conclusion 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.
Background Hydrogen sulfide （H2S） plays an important role in the smooth muscle cell relaxation and thereby participates in the development of hypertension. Cystathionine γ-lyase is the key enzyme in the endogenous production of H2S. Up to now, the reports on the relationship between the polymorphisms of cystathionine γ-lyase gene （CTH） and essential hypertension （EH） are limited. This study was designed to assess their underlying relationship. Methods 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. Results 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. Conclusions 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.
LI YunZHAO QiLIU Xiao-liWANG Lai-yuanLU Xiang-fengLI Hong-fangCHEN Shu-fengHUANG Jian-fengGU Dong-feng
