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ACE Gene (ace + gene)
Selected AbstractsAssociation of angiotensin-I converting enzyme DD genotype with influenza pneumonia in the elderlyGERIATRICS & GERONTOLOGY INTERNATIONAL, Issue 1 2002Miyuki Onishi Background: Although angiotensin-I converting enzyme (ACE) is known to associate with cough reflex and inflammatory conditions, and both may participate in influenza pneumonia in the elderly, no study has been carried out on the association between influenza pneumonia and the insertion/deletion (I/D) polymorphism of the ACE gene (ACE). Methods: The subjects were 934 elderly inpatients (mean ± SD age of 82 ± 8 years) in a long-term care hospital. The association between ACE I/D and the incidence of influenza-pneumonia events was assessed over a winter season. Data were analyzed by multiple logistic regression analysis, with adjustment for age, gender, already known clinical risk factors, and ACE-inhibitor use. Results: During the follow-up period, 330 patients developed influenza (Directigen FLU-A) and 89 developed influenza pneumonia (Center for Disease Control and Prevention (CDC) criteria with chest X-ray required), 16 fatal and 73 non-fatal. Compared to non-influenza subjects (n = 604) and influenza patients without pneumonia (n = 241), ACE DD genotype (vs ID + II) resulted in a significant risk for all pneumonia (relative risk 2.32 [95% CI: 1.30,4.14] and 2.76 [1.39,4.04]), non-fatal pneumonia (1.91 [1.01,3.63] and 2.57 [1.23,5.39]) and fatal pneumonia (6.27 [1.68,23.3] and 5.15 [1.29,20.5]). Conclusion:ACE I/D polymorphism is a strong and independent risk indicator of influenza pneumonia events in elderly inpatients. [source] Angiotensin-converting enzyme gene insertion/deletion polymorphism frequency in normotensive children with a positive family history of essential hypertensionJOURNAL OF PAEDIATRICS AND CHILD HEALTH, Issue 12 2009Lale Camci Aim: To evaluate the possible relationship between blood pressure (BP) and angiotensin-converting enzyme (ACE) gene insertion/deletion (I/D) polymorphism in normotensive children with a positive family history of essential hypertension (EHT). Material and Methods: Three hundred seventy-six randomly selected normotensive schoolchildren (147 boys, 229 girls) between the ages of seven and 17 years were enrolled. Children were subdivided into a ,first-degree relative group' and a ,second-degree relative group' according to the presence of EHT in parents or grandparents, respectively. BP was measured twice from the right arm and the systolic BP, diastolic BP and mean BP were recorded. ACE gene I/D polymorphism was performed from all studied children and frequency od DD, ID and ID allele were analysed in each study group. Results: Allelic frequencies of the DD genotype of the ACE gene were higher in children with a positive history in the first- (36.2%) and second-degree (38.3%) relatives for EHT than the controls (30.7%) (P < 0.05 for both). Children with a positive family history of EHT and a DD genotype, had significantly higher SBP, DBP and MBP levels (P < 0.05) than the children with ID or II genotypes. Conclusion: We found that the ACE gene DD genotype was common and that BP levels were higher in Turkish children with a positive family history of EHT and DD genotype. Because the presence of DD allele might be the one of the potential contributor of EHT pathogenesis, further studies needed in large cohort for long term follow-up for EHT in children with DD allele. [source] Angiotensin-converting enzyme polymorphism gene and evolution of nephropathy to end-stage renal diseaseNEPHROLOGY, Issue 4 2003M Angels ORTIZ SUMMARY: Genetic polymorphisms of the renin-angiotensin system (RAS) have been implicated in the pathogenesis of nephropathy and end-stage renal disease (ESRD). The association between angiotensin-converting enzyme (ACE) gene polymorphism and nephropathy evolution was studied. A random sample of 161 subjects from the Nephrology Department (of Hospital de Sant Pau) were divided into two groups: (i) 117 with end-stage renal disease; (ii) 44 with established nephropathy; and (iii) control groups of 129 subjects. The ACE gene polymorphism was performed by using polymerase chain reaction. High DD genotype presentation was observed in the two groups of subjects with nephropathy (46.12 and 61.37%, respectively vs 35.66% in controls; P < 0.0482), and also, a decrease was observed in the II genotype (6.4 and 4.54%, respectively vs 13.17% in controls, P < 0.0404). Glomerular filtration rate (GFR) was evaulated after 44 months of follow up. An important decrease of GFR was observed in patients with DD polymorphism versus other genotypes (initial, 32.3 ± 7.9 and at 44 months, 18.35 ± 3.3 mL/min vs 31.4 ± 11.9 and 11.7 ± 3.2 mL/min; P < 0.039). In a non-longitudinal study of patients in ESRD, patients with an ACE-DD genotype had a lower period of time between diagnosis of nephropathy and ESRD than patients with other genotypes (10.45 ± 9.32 vs 19.5 ± 8.4 years; P < 0.034). In conclusion, the ACE gene that controls RAS response may influence the development and progression of nephropathy to ESRD. Patients who develop several types of nephropathy have a higher risk of severe evolution if they have a profile of ACE-DD genotype. [source] Role of angiotensin-converting enzyme gene polymorphisms in children with sepsis and septic shockPEDIATRICS INTERNATIONAL, Issue 4 2008Ozgur Cogulu Abstract Background: Sepsis is characterized by a systemic inflammatory response. Its development and outcome are associated with host defense, pathogenicity of the microorganism and genetic polymorphisms. Genetic polymorphisms of the immune system genes have been shown to have a close relationship with the clinical outcomes of sepsis. Angiotensin-converting enzyme (ACE) plays a major role in the host defense against invading pathogens. It is therefore likely that polymorphisms in the ACE gene may have an important effect on determining the development and the outcome of sepsis. Methods: Ninety-eight children diagnosed as having sepsis and 287 healthy children were included in the study. Insertion/deletion polymorphisms were analyzed using reverse-hybridization assay. Results: The carriers of I allele (D/I genotype and I/I genotype) were found to have an increased risk of developing sepsis compared to the controls. Conclusion: DD genotype may play a positive role against the development of sepsis in healthy children. [source] Parallel effects of genetic variation in ACE activity in baboons and humansAMERICAN JOURNAL OF PHYSICAL ANTHROPOLOGY, Issue 1 2007Jenny Tung Abstract Like humans, savannah baboons (Papio sp.) show heritable interindividual variation in complex physiological phenotypes. One prominent example of such variation involves production of the homeostatic regulator protein angiotensin converting enzyme (ACE), which shows heritable variation in both baboons and humans. In humans, this phenotypic variation is associated with an Alu insertion,deletion polymorphism in the ACE gene, which explains approximately half of the variation in serum ACE activity. We identified a similar Alu insertion,deletion polymorphism in the baboon ACE homologue and measured its frequency in a wild population and a captive population of baboons. We also analyzed the contribution of ACE genotype at this indel to variation in serum ACE activity in the captive population. When conditioned on weight, a known factor affecting ACE activity in humans, age and ACE genotype both accounted for variance in ACE activity; in particular, we identified a significant nonadditive interaction between age and genotype. A model incorporating this interaction effect explained 21.6% of the variation in residual serum ACE activity. Individuals homozygous for the deletion mutation exhibited significantly higher levels of ACE activity than insertion,deletion heterozygotes at younger ages (10,14 years), but showed a trend towards lower levels of ACE activity compared with heterozygotes at older ages (,15 years). These results demonstrate an interesting parallel between the genetic architecture underlying ACE variation in humans and baboons, suggesting that further attention should be paid in humans to the relationship between ACE genetic variation and aging. Am J Phys Anthropol, 2007. © 2007 Wiley-Liss, Inc. [source] ORIGINAL ARTICLE: Are Polymorphisms in the ACE and PAI-1 Genes Associated with Recurrent Spontaneous Miscarriages?AMERICAN JOURNAL OF REPRODUCTIVE IMMUNOLOGY, Issue 6 2009Chelsi Goodman Problem, To determine whether the ACE D/D genotype or the combination of PAI-1 4G/4G and ACE D/D genotypes may serve as a risk factor for recurrent pregnancy loss. Method of study, Buccal swabs were obtained from 120 women experiencing recurrent pregnancy loss and from 84 fertile control women. DNA was extracted from the buccal swab samples using the Qiagen DNA Mini Kit (Qiagen), followed by multiplex polymerase chain reaction (PCR). PCR products were analyzed for the ACE gene polymorphism, which consists of the insertion or deletion (I/D) of a 287-bp fragment in intron 16, and the PAI-1 4G/4G genotype. Results, No significant differences in specific ACE gene mutations were observed when patients experiencing recurrent miscarriage were compared with control women. When the frequencies of homozygous mutations for ACE D/D and PAI-I 4G/4G were compared between recurrent aborters and controls, again no significant differences in the prevalence of the combination of these gene mutations were noted. Conclusion, Homozygosity for the D allele of the ACE gene and the combination of the D/D genotype with two 4G alleles of the PAI-1 promoter gene are not associated with a significant increase in the risk of recurrent miscarriage. [source] A Combinatorial Searching Method for Detecting a Set of Interacting Loci Associated with Complex TraitsANNALS OF HUMAN GENETICS, Issue 5 2006Qiuying Sha Summary Complex diseases are presumed to be the results of the interaction of several genes and environmental factors, with each gene only having a small effect on the disease. Mapping complex disease genes therefore becomes one of the greatest challenges facing geneticists. Most current approaches of association studies essentially evaluate one marker or one gene (haplotype approach) at a time. These approaches ignore the possibility that effects of multilocus functional genetic units may play a larger role than a single-locus effect in determining trait variability. In this article, we propose a Combinatorial Searching Method (CSM) to detect a set of interacting loci (may be unlinked) that predicts the complex trait. In the application of the CSM, a simple filter is used to filter all the possible locus-sets and retain the candidate locus-sets, then a new objective function based on the cross-validation and partitions of the multi-locus genotypes is proposed to evaluate the retained locus-sets. The locus-set with the largest value of the objective function is the final locus-set and a permutation procedure is performed to evaluate the overall p-value of the test for association between the final locus-set and the trait. The performance of the method is evaluated by simulation studies as well as by being applied to a real data set. The simulation studies show that the CSM has reasonable power to detect high-order interactions. When the CSM is applied to a real data set to detect the locus-set (among the 13 loci in the ACE gene) that predicts systolic blood pressure (SBP) or diastolic blood pressure (DBP), we found that a four-locus gene-gene interaction model best predicts SBP with an overall p-value = 0.033, and similarly a two-locus gene-gene interaction model best predicts DBP with an overall p-value = 0.045. [source] Association of angiotensin I-converting enzyme gene polymorphisms with aspirin intolerance in asthmaticsCLINICAL & EXPERIMENTAL ALLERGY, Issue 11 2008T-H. Kim Summary Background Aspirin-intolerant asthma (AIA) refers to the development of bronchoconstriction in asthmatic individuals following the ingestion of aspirin or other non-steroidal anti-inflammatory drugs (NSAIDs). Angiotensin I-converting enzyme (ACE), a membrane-bound peptidase present in the lung, plays a pivotal role in the metabolism of the endogenous peptides involved in the pathogenesis of asthma. Methods We screened a Korean asthma cohort (581 asthmatics including 81 aspirin-intolerant asthmatics and 231 aspirin-tolerant asthmatics, and 181 normal controls) for four single nucleotide polymorphisms (SNPs; ,262 A>T and ,115 T>C in the 5,-flanking region and +5467 T>C [Pro450Pro] and+11860 A>G [Thr776Thr] in the coding region) and one ins/del (+21288 CT) in the ACE gene. Results None of the SNPs or haplotypes showed any association with the development of asthma, but they were significantly associated with the risk of AIA. Logistic regression indicated that the frequency of the rare alleles of ,262 A>T and ,115 T>C was higher in subjects with AIA than in subjects with aspirin-tolerant asthma (ATA) (P=0.003,0.01, P corr=0.015,0.05). Subjects homozygous for the rare alleles of ,262 A>T and ,115 T>C showed a greater decline in forced expiratory volume in 1 s (FEV1) after aspirin provocation than those homozygous for the common alleles (P<0.05). A luciferase reporter assay indicated that ACE promoters containing the rare ,262 A>T allele possessed lower activity than did those containing the common allele (P=0.009). In addition, ACE promoters bearing the rare ,115 T>C allele had no luciferase activity. DNA,protein binding assays revealed a band containing the ACE promoter region (including ,262 A) and a protein complex. Conclusion The ,262 A>T polymorphism in the promoter of the ACE gene is associated with AIA, and the rare allele of ,262 A>T may confer aspirin hypersensitivity via the down-regulation of ACE expression. [source] Comparative linkage map development and identification of an autosomal locus for insensitive acetylcholinesterase-mediated insecticide resistance in Culex tritaeniorhynchusINSECT MOLECULAR BIOLOGY, Issue 3 2001A. Mori Abstract A comparative linkage map for Culex tritaeniorhynchus was constructed based on restriction fragment length polymorphism markers using cDNAs from Aedes aegypti. Linear orders of marker loci in Cx. tritaeniorhynchus were identical to Culex pipiens wherein chromosomes 2 and 3 reflect whole-arm rearrangements compared to A. aegypti. However, the sex determination locus in Cx. tritaeniorhynchus maps to chromosome 3, in contrast to Cx. pipiens and Ae. aegypti where it is located on chromosome 1. Our results indicate that insensitive acetylcholinesterase (AChE)-mediated organophosphate resistance is controlled by a single major gene (AChER) on chromosome 2, while the AChE structural gene (Ace) is located on chromosome 1. No evidence for a second Ace gene was observed, even under very low stringency hybridization conditions. [source] Comparison of two acetylcholinesterase gene cDNAs of the lesser mealworm, Alphitobius diaperinus, in insecticide susceptible and resistant strainsARCHIVES OF INSECT BIOCHEMISTRY AND PHYSIOLOGY (ELECTRONIC), Issue 3 2008Toshinori Kozaki Abstract Two cDNAs encoding different acetylcholinesterase (AChE) genes (AdAce1 and AdAce2) were sequenced and analyzed from the lesser mealworm, Alphitobius diaperinus. Both AdAce1 and AdAce2 were highly similar (95 and 93% amino acid identity, respectively) with the Ace genes of Tribolium castaneum. Both AdAce1 and AdAce2 have the conserved residues characteristic of AChE (catalytic triad, intra-disulfide bonds, and so on). Partial cDNA sequences of the Alphitobius Ace genes were compared between two tetrachlorvinphos resistant (Kennebec and Waycross) and one susceptible strain of beetles. Several single nucleotide polymorphisms (SNPs) were detected, but only one non-synonymous mutation was found (A271S in AdAce2). No SNPs were exclusively found in the resistant strains, the A271S mutation does not correspond to any mutations previously reported to alter sensitivity of AChE to organophosphates or carbamates, and the A271S was found only as a heterozygote in one individual from one of the resistant A. diaperinus strains. This suggests that tetrachlorvinphos resistance in the Kennebec and Waycross strains of A. diaperinus is not due to mutations in either AChE gene. The sequences of AdAce1 and AdAce2 provide new information about the evolution of these important genes in insects. Arch Insect Biochem Physiol. © 2007 Wiley-Liss, Inc. [source] Possible role of the adhesin ace and collagen adherence in conveying resistance to disinfectants on Enterococcus faecalisMOLECULAR ORAL MICROBIOLOGY, Issue 6 2008G. Kayaoglu Introduction:, This study aimed to evaluate whether the presence of the ace gene and Ace-mediated binding to collagen confers on Enterococcus faecalis resistance against common endodontic disinfectants. Methods:, Isogenic strains of E. faecalis: OG1RF (wild-type) and TX5256 (ace insertion mutant of OG1RF) were grown in brain,heart infusion broth at 46°C overnight. Standardized bacterial suspensions were pretreated for 1 h either with acid-soluble collagen or acidified phosphate-buffered saline (ac-PBS). Bacteria were challenged with chlorhexidine digluconate (CHX), iodine potassium-iodide (IKI), sodium hypochlorite (NaOCl), and calcium hydroxide [Ca(OH)2]. Samples were removed at 1, 3, and 6 h, and cultured on Todd,Hewitt agar plates. Colonies were counted, the absolute values were log transformed, and the data were statistically analyzed using Fisher's least significant differences test and t -test. Results:, OG1RF was more resistant than TX5256 to IKI, NaOCl, and Ca(OH)2 (P < 0.05). Collagen-exposed OG1RF was more resistant than the ac-PBS-pretreated OG1RF against CHX at 3 h and against IKI at 1 h (P < 0.05); no significant difference was found against NaOCl. As expected, the ace mutant strain, TX5256, pretreated with collagen or ac-PBS did not differ significantly in viability when challenged with CHX, IKI, and NaOCl. An unexpected result was found for Ca(OH)2: collagen-pretreated OG1RF and TX5256 were both more susceptible than ac-PBS-pretreated OG1RF and TX5256, respectively (P < 0.05). Conclusion:, The presence of the ace gene confers resistance against IKI, NaOCl, and Ca(OH)2 on E. faecalis. Exposure to collagen makes the wild-type bacterium more resistant against CHX and IKI; however, exposure to collagen apparently decreases resistance to Ca(OH)2. [source] Ace2, rather than ace1, is the major acetylcholinesterase in the silkworm, Bombyx moriINSECT SCIENCE, Issue 4 2009Hui-Juan Chen Abstract, Two acetylcholinesterase (ace) genes have been reported in many insect species. In pests such as Helicoverpa assulta and Plutella xylostellas, ace1 gene encodes the predominant synaptic enzyme that is the main target of organophosphorus (OP) and carbamate pesticides. It has been reported that pesticide selection has an impact on the ace gene evolution. The domesticated silkworm, Bombyx mori, also has two ace genes. We studied ace gene expression and enzyme activities in silkworm as this has not faced pesticide selection over the past decades. The expression levels of two ace genes, Bm- ace1 and Bm- ace2, were estimated by quantitative real-time polymerase chain reaction. Bm- ace2 was expressed more highly than Bm- ace1 in all tested samples of different developmental stages or tissues, suggesting ace2, rather than ace1, is the major type of acetylcholinesterase (AChE) in Bombyx mori. This is inconsistent with the aforementioned lepidopterons agricultural pests, partly be due to the widespread use of pesticides that may induce high expression of the ace1 gene in these pests. Besides high expression in the head, Bm- ace1 also expresses highly in the silk glands and Bm- ace2 is abundant in the germline, implying both ace genes may have potential non-hydrolytic roles in development. Furthermore, we found that the mRNA levels of two ace genes and their ratios (ace2/ace1) change day to day in the first and third instars. This challenges the conventional method of estimating enzymatic activity using crude extract as an enzyme solution, as it is a mixture of AChE1 and AChE2. An efficient and simple method for separating different AChEs is necessary for reliable toxicological analyses. [source] | |||||||||||||