Association of Connexin Gene Polymorphism with Essential Hypertension in Kazak and Han Chinese in Xinjiang,China

Essential hypertension（EH） is affected by both genetic and environmental factors.The polymorphism of connexin（Cx） genes is found associated with the development of hypertension.However,the association of the polymorphism of Cxs with EH has not been investigated.This study aimed to investigate the association of the polymorphism of connexin（Cx） genes Cx37,Cx40,and Cx43 with EH in Kazak and Han Chinese in Xinjiang,China.Polymerase chain reaction-restriction fragment length polymorphism（PCR-RFLP） method and matrix-assisted laser desorption ionization time-of-flight mass spectrometry（MALDI-TOF-MS） were used to analyze the polymorphism of Cx genes in Kazak and Han EH patients as well as their normotensive controls.The results showed that there were no significant differences in the frequencies of different three genotypes（A/A,A/G,and G/G） and A and G alleles of Cx40 rs35594137 and rs11552588 between EH patients and normotensive controls.However,in Kazak EH patients,the frequencies of three genotypes（A/A,A/G,and G/G） of Cx37 rs1630310 were 24.8%,47.2% and 28.0%,respectively,which were significantly different from those in Han EH patients.In Han EH patients,the frequencies of the three genotypes（C/C,C/G and G/G） of Cx43 rs1925223 were 6.4%,35.6% and 58.0%,respectively.Frequencies of the other four genotypes had no statistical differences among Kazak and Han EH patients and their normotensive controls.These results suggest polymorphisms of Cx37 rs1630310 and Cx43 rs1925223 genes may be associated with the pathogenesis of EH.Carrying Cx37 rs1630310-A or Cx43 rs1925223-G genotypes may protect against the development of EH.

Apolipoprotein A-V gene therapy for disease prevention/treatment:a critical analysis

Apolipoprotein（apo） A-V is a novel member of the class of exchangeable apo＇s involved in triacylglycerol（TG）homeostasis.Whereas a portion of hepatic-derived apoA-V is secreted into plasma and functions to facilitate lipoprotein Iipase-mediated TG hydrolysis,another portion is recovered intracellularly,in association with cytosolic lipid droplets.Loss of apo A-V function is positively correlated with elevated plasma TG and increased risk of cardiovascular disease.Single nucleotide polymorphisms（SNP） in the APOA5 locus can affect transcription efficiency or introduce deleterious amino acid substitutions.Likewise,rare mutations in APOA5 that compromise functionality are associated with increased plasma TG and premature myocardial infarction.Genetically engineered mouse models and human population studies suggest that,in certain instances,supplementation with wild type（WT） apoA-V may have therapeutic benefit.It is hypothesized that individuals that manifest elevated plasma TG owing to deleterious APOA5 SNPs or rare mutations would respond to WT apoA-V supplementation with improved plasma TG clearance.On the other hand,subjects with hypertriglyceridemia of independent origin（unrelated to apoA-V function） may not respond to apoA-V augmentation in this manner.Improvement in the ability to identify individuals predicted to benefit,advances in gene transfer technology and the strong connection between HTG and heart disease,point to apoA-V supplementation as a viable disease prevention / therapeutic strategy.Candidates would include individuals that manifest chronic TG elevation,have low plasma apoA-V due to an APOA5 mutation/polymorphism and not have deleterious mutations/polymorphisms in other genes known to influence plasma TG levels.

Relation between connective tissue growth factor rs9399005 gene single nucleotide polymorphism and coronary heart disease

Objective To investigate the relationship between connective tissue growth factor(CTGF)rs9399005 gene polymorphism and serum CTGF level,coronary heart disease(CHD).Methods The serum CTGF levels were de-tected by enzyme linked immunosorbent assay in 214 cases of CHD and 64 cases of normal control group.CTGF gene rs9399005 single nucleotide polymorphism(SNP)was analyzed by Sanger method.Baseline clinical data,serum CTGF and genotype distribution frequencies

Association of ADIPOQ and ADIPOR Variants with Risk of Colorectal Cancer：A Meta-analysis

Numerous epidemiological studies have studied the association of adiponectin（ADIPOQ） gene and adiponectin receptor（ADIPOR） gene polymorphisms with risk of colorectal cancer（CRC）,but the outcomes were incomplete and inconsistent.Therefore,we conducted a meta-analysis to assess the associations systematically.All eligible case-control studies published up to Jan.2015 were searched from Pub Med,the Cochrane library,Elsevier,Wiley Online library,China National Knowledge Infrastructure,Wan Fang data and Chongqing VIP.Effect sizes of odds ratio（OR） and 95% confidence interval（95%CI） were calculated by using a fixed-or random-effect model.Twelve case-control studies including 6141 cases and 7398 controls were selected.Significant differences in the distributions of allele frequency with CRC risk were directly present in ADIPOQ variants rs2241766,rs1501299 and ADIPOR variant rs1342387.In stratified analysis for different populations,significant differences were present in ADIPOQ variant rs822396 for Ashkenazi Jewish,in ADIPOQ variant rs1501299 and ADIPOR variant rs1342387 for Chinese and in ADIPOQ variant rs 2241766 for Ashkenazi Jewish and Chinese.In addition,the factors correlated with insulin resistance had synergistic effect with ADIPOQ variants rs2241766 T/G and rs1501299 G/T on risk of CRC.ADIPOQ variants rs2241766 T/G,rs1501299 G/T and ADIPOR variant ADIPOR rs1342387 G/A had a population specific correlation with CRC risk,which may be mediated by insulin resistance.And large well-designed studies are still needed for further evaluation of rs822396 and rs1063538,especially for their interaction and combined effect in the correlation with CRC risk.