摘要:目的:研究高血壓病患者脂蛋白脂肪酶(liportein lipase, LPL)S447X基因多態性與認知功能之間的關系。方法: 對2008年1月至2008年11月在四川大學華西醫院醫院門診就診的原發性高血壓患者190例,收集一般資料,采用國際通用的簡易智力狀況量表測驗認知功能,計算認知評分,用聚合酶鏈反應限制性片段長度多態性(PCRRFLP)技術測定LPL S447X基因多態性。同時測定膽固醇、甘油三酯、空腹血糖、空腹胰島素及餐后2h血糖、餐后2h胰島素水平。結果: 高血壓病患者認知功能正常組和認知功能障礙組組間LPLS447X基因的基因型和基因頻率差異均無統計學意義(Pgt;0.05), SS和SX頻率分別為92.6%、7.4%,S和X等位基因頻率分別為96.3%和3.7%。結論: LPLS447X 基因多態性可能與高血壓認知功能障礙無明顯相關性。Abstract: Objective:To study the relationship between liportein lipase(LPL) S447X polymorphism and cognitive function in patients with primary hypertension. Methods:One hundred and ninety hypertensive patients from January 2008 to November 2008 in West China Hospital of Si Chuan University. We collected the general data and applied the Mini Mental State Examination to test the cognitive function and computed score. PCRRELP method was used to analyze the LPL S447X gene polymorphism. Total cholesterol、triglyeride、fasting plasma glucose and postprandial blood sugar、fasting insulin and postprandial plasma insulin were collected. Results:In primary hypertensive patients, both of the genotype frequency and the allele frequency of the LPL S447X polymorphism were not different between the cognitive normal group and the cognitive impaired group (Pgt;0.05). SS genotype was present in 0926 of the population, SX genotype was present in 0.074 of the population. allele frequencies were 0.963 for S allele and 0.037 for X allele. Conclusion:This results suggest S447X polymorphism in LPL with primary hypertension may not be associated with cognitive impairment. And age and postprandial plasma insulin level are the risk factors of hypertensive cognitive impairment.
ObjectiveTo explore the association of elongase of very long chain fatty acids family member 6 (ELOVL6) gene with increased risk of large-artery atherosclerosis stroke (LAA) in Han Chinese population in Chengdu.MethodsHan Chinese populations in Chengdu, Sichuan were chosen for this study using the case-control design between January 2015 and December 2017. The genotypes and haplotypes of six single nucleotides polymorphisms (SNPs) of ELOVL6 gene (rs3813825, rs17041272, rs4141123, rs9997926, rs6824447, and rs12504538) were analyzed in different genetic models in entire samples, and gene-enviromental interaction analyses were also carried out to get an insight of the risk factors for LAA. At the same time, we also analyzed the gene expression profile in peripheral blood mononuclear cells between groups.ResultsA total of 240 LAA cases and 211 healthy controls were enrolled in this study. All the enrolled subjects presented CC genotype of rs9997926, while the other five SNPs (rs3813825, rs17041272, rs4141123, rs6824447, and rs12504538) were genotyped successfully in all the enrolled subjects. rs17041272 polymorphism and TGTTG haplotype were significantly associated with LAA risk in studied population [CC/(CG+GG): odds ratio (OR)=0.640, 95% confidence interval (CI) (0.423, 0.968), P=0.034; TGTTG: OR=1.776, 95%CI (1.069, 2.951), P=0.024], and the interaction among rs17041272, rs6824447 SNPs and dyslipidemia increased susceptibility to LAA [OR=2.737, 95%CI (1.715, 4.368), P<0.001]. The ELOVL6 gene expression level was higher in LAA subjects (t=?3.167, P=0.003).ConclusionsELOVL6 gene is associated with LAA risk in Han nationality of Chinese population in Chengdu, and the interaction of gene-environmental risk factors could be of great importance in pathophysiology of LAA.
Objective To review the research progress in relationship between hereditary diffuse gastric cancer (HDGC) and CDH1 gene. Methods Literatures on HDGC which were published in recent years were collected and analyzed. Results Aberrant CDH1 gene is significantly correlated with HDGC: mutations of CDH1 exons play the most important role in pathogenesis of HDGC. Screening CDH1 gene mutation is useful for diagnosis of HDGC as well as the treatments. Alterations of CDH1 other than exon mutation, such as intron mutation, gene promoter methylation and single nucleotide polymorphism may result in downregulation of the gene expression. Further study should be done to confirm the roles of these alterations. Conclusions Alterations of CDH1 gene are significantly associated with the pathogenesis of HDGC. Detecting alterations of CDH1 gene are important for diagnosis and management of HDGC as well as to get insights of the pathogenesis of the disease.
ObjectiveTo explore the correlation of serum levels of 5-hydroxytryptamine (5-HT) and 5-HT2A receptor gene T102C polymorphism with suicidal behavior by poison in non-depressive patients, in order to diagnose and intervene the suicidal behavior of patients as early as possible. MethodsSixty-two non-depressive patients with the behavior of suicide by poison treated between January 2013 and June 2014 were selected as patient group, and other 66 healthy persons were selected as control group. Peripheral blood in the two groups of patients were collected to test the serum levels of 5-HT with enzyme linked immunosorbent assay, and the 5-HT2A receptor gene T102C polymorphism was detected by polymerase chain reaction-restriction fragment length polymorphism. The data were analyzed by SPSS 19.0 statistically. ResultsThe serum level of 5-HT in the patient group was significantly lower than that in the control group (P<0.001), and the frequency of T102C genotype in the patient group was higher than the control group (χ2=5.533, P=0.013). The distribution of genotype was different, and homozygous mutations of CC in the patient group were higher than the control group (χ2=5.648, P=0.017). ConclusionThe serum levels of 5-HT and 5-HT2A receptor gene T102C polymorphism, and the frequency of T102C genotype may be related to suicidal behavior by poison in non-depressive patients.
Tuberculosis remains a major public health problem. Genetic epidemiological studies have shown that the differences in host genes partly determine the susceptibility to tuberculosis. The occurrence of tuberculosis is the result of the joint action of Mycobacterium tuberculosis and host gene regulation immune response. The study of susceptibility candidate genes has differences in race, population and region, and the study of susceptibility gene polymorphism still has a long way to go in clinical precision diagnosis and treatment. The study and clinical application of mendelian susceptibility to mycobacterial disease can be used as a classic application of precision medical treatment in tuberculosis; although it is a rare case, this model is worthy of reference.
Warfarin is one of the most frequently prescribed oral anticoagulant. Many researches have shown that the cytochrome P450 2C9 (CYP2C9) and vitamin K epoxide reductase complex 1 (VKORC1) genotypes have been strongly associated with warfarin maintenance doses. Warfarin maintenance doses can be accurately predicted by use of dosing algorithms including genetic and clinical information. Although several clinical trials demonstrated mixed results, calling into question the utility of this approach. The present data do not support genetic testing to guide warfarin maintenance doses, but in the setting where genotype data are available, use of this approach is reasonable. Ongoing trials are expected to provide more data, and more work is needed to define dosing algorithms that include appropriate variables in minority populations. All these work will further improve the clinical application of genotype-guided warfarin maintenance doses.
ObjectiveTo investigate the relationship between the polymorphisms of estrogen receptor α (ERα) gene PvuⅡ, XbaⅠ and breast hyperplasia. MethodsPolymerase chain reaction-restriction fragment length polymorphism was used to detect the polymorphisms of ERα gene PvuⅡ, XbaⅠ in breast hyperplasia patients (study group, n=89) and healthy controls (control group, n=35). ResultsThe differences of the genotypic frequency and allele frequency of the ERα gene Xba Ⅰ were significant between the study group and the control group (Plt;0.05). According to analysis of the odds ratio (OR), the risk of developing breast hyperplasia for X allele carriers was 0.551 as compared with x allele carriers. But there was no significant difference for the gene polymorphism of PvuⅡ between the study group and the control group (Pgt;0.05). ConclusionThe polymorphisms of XbaⅠof ERα gene is associated with breast hyperplasia and the mutant gene increases breast hyperplasia risk.
Abstract： Objective To explore the association between transforming growth factor-β receptor typeⅡ (TGFBR2) gene rs6785358 and rs764522 polymorphisms and rheumatic heart disease (RHD) in Chinese Han People. Methods The research design was a case-control study. A total of 207 patients who were hospitalized in Nanjing First Hospital Affiliated to Nanjing Medical University between October 2008 and January 2011 with RHD served as RHD group while 225 age and gender matched healthy adults as control group. Polymerase chain reaction-restriction length polymorphism (PCR-RFLP) technique was used to determine TGFBR2 gene rs6785358 and rs764522 polymorphisms. Results The frequencies of genotype AA, AG and GG of rs6785358 in RHD group and control group were 72.0%, 25.1%, 2.9% and 68.9％, 28.0％, 3.1％,respectively. There was no significant difference in the distribution of genotype frequencies for rs6785358 between RHD group and control group（χ2=0.50，P=0.78）. The frequencies of allele A and G of rs6785358 in RHD group and control group were 84.5％, 15.5％ and 82.9％, 17.1％,respectively. There was no significant difference in the distribution of allele frequencies for rs6785358 between RHD group and control group（χ2=0.43，P=0.51）. The frequencies of genotype CC, CG and GG of rs764522 in RHD group and control group were 77.3%, 21.3%, 1.4% and 75.6％, 21.3％, 3.1％, respectively. There was no significant difference in the distribution of genotype frequencies for rs764522 between RHD group and control group（χ2=1.33，P=0.51）. The frequencies of allele C and G of rs764522 in RHD group and control group were 87.9％, 12.1％ and 86.2％, 13.8％,respectively. There was no significant difference in the distribution of allele frequencies for rs764522 between RHD group and control group（χ2=0.55，P=0.46）. Further analysis by sex stratification showed that no statistical significance was detected in the distribution of genotype and allele frequencies for rs6785358 or rs764522 between RHD patients and controls. Conclusion TGFBR2 gene rs6785358 and rs764522 polymorphisms are not associated with RHD in Chinese Han people.
Objective To investigate the mutations of quinolone resistance determinational region ( QRDR) in fluoroquinolon-resistant Pseudomonas aeruginosa strains isolated from patients with nosocomial pneumonia. Methods Eight-four Pseudomonas aeruginosa strains isolated from patients with nosocomial pneumonia in Xinhua Hospital during January 2006 to December 2007, from whom fluoroquinolon-resistant resisitant ( case) and fluoroquinolon-susceptible ( control ) Pseudomona aeruginosa were identified. The mutation of QRDR was tested by restriction fragment length polymorphism ( RFLP) and gene sequencing.The relationship between QRDR mutations and clinical prescription was analyzed. Results Mutation in QRDR was found in 42 isolates among the 50 fluoroquinlon-resisitant isolates( 84. 0% ) , while no mutation was found in fluoroquinlon-susceptible isolates. The mutation in GyrB Ser464 was found in 34 isolates ( 68. 0% ) . There was statistical difference in the usage of β-lactams between the GyrB-Ser464-mutated group and the non-GyrB-Ser464-mutated group( OR = 11. 3, P = 0. 003 and OR = 3. 5, P = 0. 023) , also in the time of fluoroquinolon usage before isolated ( P = 0. 038) . Conclusions The mutation of QRDR is contributing to fluoroquindor-resisitance of Pseudomona aeruginosa, most of which lies in GyrB Ser464.Abuse of β-lactams and fluoroquinolon may be the risk factors of mutation in GyrB Ser464.
Objective To detect the single nucleotide polymorphisms ( SNPs) in the upstream promoter region of chemokine like factor ( CKLF) gene and analyze their possible associations with asthma and asthma-related phenotypes. Methods Direct Sequence of the 1553bp upstream promoter region of CKLF gene was performed in 245 Chinese Han human genomic DNAs ( 119 asthmatics and 126 controls) .The frequencies of alleles, genotypes, and haplotypes were determined and the association of these SNPs with asthma were further analyzed. Results Four novel SNPs, SNP88 ( T gt; C) , SNP196 ( T gt; C) , SNP568 ( C gt;G) , and SNP1047 ( C gt; G) were found in the promoter region of CKLF. The frequency of rare allele was 0. 168 ( SNP88C) , 0. 168 ( SNP196C) , 0. 352 ( SNP568G) and 0. 167 ( SNP1047G) , respectively.Haplotypes, their frequencies and the linkage disequilibrium coefficients between SNPs were constructed.Complete linkage disequilibrium( LDs) were observed between SNP88 and SNP196, SNP88 and SNP1047,as well as SNP196 and SNP1047, respectively ( D′=1. 000, r2 = 1. 000) . SNP568 was in partial LD with the other three SNPs ( r2 = 0. 366) . No association between asthma and the SNPs was observed. Conclusions Four SNPs in the regulatory region of CKLF in Chinese Han population were firstly identified. Although no significant correlation with asthma was revealed, the SNP and haplotype information is useful for other disease association studies in the future.