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PubMed1996

Hepatitis C virus RNA levels determined by branched DNA probe assay correlated with levels assessed using competitive PCR.

OBJECTIVE: To search for comparative differences, levels of hepatitis C virus (HCV) RNA were examined by branched DNA (bDNA) probe assay and by competitive polymerase chain reaction (PCR). METHODS: The study population included 234 patients (chronic hepatitis 146, cirrhosis 36, hepatocellular carcinoma 52), all of whom were positive for HCV RNA, as determined by PCR. We quantified HCV RNA levels of all serum samples by both bDNA probe and competitive PCR. RESULTS: HCV RNA was detected in serum samples by bDNA assay in 142 (60.7%) of the 234 patients; this rate was significantly higher in 106 (73.6%) of the 144 patients in genotype II than in 20 (41.7%) of 48 of genotype III and in 16 (38.1%) of 42 of genotype IV (p < 0.001, respectively). The median HCV RNA levels by bDNA assay (x 10(6) eq/ml) were 0.1, 0.1, 0.4, 1.4, and 5.3 among patients with HCV RNA levels < 3, 4, 5, 6, and 7 respectively, by competitive PCR (logarithmic transformation copy numbers/50 microliters). A significant correlation was found between HCV RNA levels by bDNA and competitive PCR (r = 0.5747, p < 0.001). There was a correlation among patients of genotype II and genotype III but not genotype IV. CONCLUSION: We recommend bDNA assay for use in clinical practice because the procedure is not difficult and is less contamination-prone. The HCV RNA levels determined using this assay correlated with those examined by competitive PCR.

Base Sequence↗

PubMed1993

Variability of the envelope regions of HCV in European isolates and its significance for diagnostic tools.

Following the original description of HCV in 1989 a tremendous amount of sequence data is now available. Based on the 8 complete nucleotide sequences published so far at least 4 genotypes can be distinguished. Partial sequences of additional HCV isolates indicate the existence of further genotypes. A serological typing is not yet possible. For detection of virus, reverse transcription and amplification of the 5' non coding region is most commonly performed. This region of the genome is highly conserved among all isolates. In this study we used regions of the E1 and E2 gene in order to classify HCV isolates. The nucleotide sequences of regions in E1 and E2 gene of different European isolates from Germany, Croatia, Hungary, and Rumania were determined and compared to recently published RNA sequences of American and Japanese HCV isolates. The cDNA, obtained by reverse transcription of viral RNA extracted from sera was amplified by nested PCR, cloned and sequenced. Within 564 nucleotides (nt) of E1 we found 87-90% homology (and 89-92% homology at aa level) compared to sequences of Japanese origin and 73-74% homology (77-81% at aa level) compared to the prototype HCV sequence (ptHCV-I). In all characterized isolates the sequence of E2 (643 nucleotides) showed a homology of about 83% at the nucleotide level as compared to genotype II sequences, and a homology of about 70% to genotype I. Our results confirm the existence of two hypervariable regions in the E2 gene of genotype II sequences. Our results also indicate together with other reports from European HCV isolates that genotype II is predominant in Europe.

Amino Acid Sequence↗

PubMed2004

Host cell tropism underlies species restriction of human and bovine Cryptosporidium parvum genotypes.

It has been recognized recently that human cryptosporidiosis is usually caused by Cryptosporidium parvum genotype I ("human" C. parvum), which is not found in animals. Compared to C. parvum genotype II, little is known of the biology of invasion of the human-restricted C. parvum genotype I. The aims of the present study were (i) to explore and compare with genotype II the pathogenesis of C. parvum genotype I infection by using an established in vitro model of infection and (ii) to examine the possibility that host-specific cell tropism determines species restriction among C. parvum genotypes by using a novel ex vivo small intestinal primary cell model of infection. Oocysts of C. parvum genotypes I and II were used to infect HCT-8 cells and primary intestinal epithelial cells in vitro. Primary cells were harvested from human endoscopic small-bowel biopsies and from bovine duodenum postmortem. C. parvum genotype I infected HCT-8 cells with lower efficiency than C. parvum genotype II. Actin colocalization at the host parasite interface and reduction in levels of invasion after treatment with microfilament inhibitors (cytochalasin B and cytochalasin D) were observed for both genotypes. C. parvum genotype II invaded primary intestinal epithelial cells, regardless of the species of origin. In contrast, C. parvum genotype I invaded only human small-bowel cells. The pathogenesis of C. parvum genotype I differs from C. parvum genotype II. C parvum genotype I does not enter primary bovine intestinal cells, suggesting that the species restriction of this genotype is due to host tissue tropism of the infecting isolate.

Actins↗

PubMed2002

Association between the angiotensin-converting enzyme gene polymorphisms and tissue oxygenation during exercise in patients with COPD.

STUDY OBJECTIVES: We have recently determined that the angiotensin-converting enzyme (ACE) DD genotype might be associated with pulmonary hypertension during exercise in patients with COPD. Therefore, this study was designed to determine whether ACE gene polymorphisms adversely affect tissue oxygenation during exercise in patients with COPD. DESIGN: Cross-sectional analysis. SETTING: University hospital. PATIENTS: Thirty-nine patients (14 patients with II genotype, 12 patients with ID genotype, and 13 patients with DD genotype). INTERVENTIONS: All patients underwent right-heart catheterization and constant-load exercise testing for 5 min on an ergometer. MEASUREMENTS AND RESULTS: The ratio of the change in oxygen delivery (DO(2)) to the increase in oxygen consumption (O(2)) during exercise (DeltaDO(2)/DeltaO(2)) was significantly lower in patients with the DD genotype (1.5 +/- 0.2) than in those with the II genotype (1.9 +/- 0.3, p = 0.0006) and the ID genotype (1.7 +/- 0.2, p = 0.037). Mixed venous oxygen tension (PO(2)) after exercise in patients with the DD genotype (23.5 +/- 1.5 mm Hg) was also significantly lower than in patients with the II genotype (26.7 +/- 1.6 mm Hg, p = 0.0002) and the ID genotype (25.0 plus minus 2.0 mm Hg, p = 0.045). In addition, the change in plasma concentration of lactate during exercise (DeltaLactate) was significantly higher in patients with DD genotype (33.3 +/- 4.3 mmol/L) than in those with the II genotype (25.5 +/- 3.6 mmol/L, p = 0.0002) and the ID genotype (28.8 +/- 4.0 mmol/L, p = 0.029). The mean pulmonary arterial pressure after exercise was significantly correlated with DeltaDO(2)/DeltaO(2) (r = - 0.423, p = 0.0076) but not with PvO(2) after exercise and with DeltaLactate. CONCLUSIONS: The ACE DD genotype may be associated with an impairment in peripheral tissue oxygenation during exercise in patients with COPD.

Exercise↗

PubMed2002

Distribution of genotypes of F-specific RNA bacteriophages in human and non-human sources of faecal pollution in South Africa and Spain.

AIMS: To assess whether the distribution of genotypes of F-specific RNA bacteriophages reflects faecal pollution of human and animal origin in water environments. METHODS AND RESULTS: Stool samples, animal feedlot waste slurries and a wide variety of faecally polluted waters were studied in South Africa and Spain. Genotyping was performed by plaque and spot hybridization with genotype-specific probes. Only genotypes II and III were detected in human stool. Animal faeces contained predominantly, but not exclusively, genotypes I and IV. Raw hospital and municipal sewage contained mostly genotypes II and III, whereas genotypes I and II prevailed in settled sewage, secondary treated sewage and non-point diffuse effluents from developing communities. Abattoir wastewaters contained mostly genotypes I and IV. No differences were observed between the distribution of genotypes in Spain and South Africa. CONCLUSIONS: Although the association of genotypes II and III with human excreta and I and IV with animal excreta was statistically significant, the results suggest that the association cannot be used for absolute distinction between faecal pollution of human and animal origin. SIGNIFICANCE AND IMPACT OF THE STUDY: This study contributes greatly to understanding the usefulness of genotypes of F-specific RNA bacteriophages in source tracking of faecal wastes.

Animals↗

PubMed1995

Genotype, slow decrease in virus titer during interferon treatment and high degree of sequence variability of hypervariable region are indicative of poor response to interferon treatment in patients with chronic hepatitis type C.

In a study assessing factors associated with a good or a poor response to interferon treatment in patients with chronic hepatitis type C, we analyzed serum samples taken from 26 interferon-treated patients and found further evidence that infection with genotype II is associated with a poor response. Whereas all seven patients with group III genotype tested showed a good response (normalization of alanine aminotransferase level for more than 6 months), only 10 of 19 (53%) patients infected with group II genotype showed a good response. We also observed that 16 of 17 (94%) patients who exhibited a rapid virus titer decrease during the first 2 weeks of treatment later showed a good response. In contrast, only three of nine (33%) patients with an initially slow viral decrease eventually showed a good response (p<0.04). None of the 26 control patients exhibited a marked virus decrease or normalization of serum alanine aminotransferase level. Interestingly, high degrees of sequence variability were seen in three patients with group II hepatitis C virus who responded poorly to the therapy. All three showed slow decreases in virus titer during the first 2 weeks of treatment. In contrast, patients with genotype II who showed a good response to treatment were seen to have very few mutations. In three patients with genotype III who had responded well to interferon treatment, all showed very little amino acid sequence variability in the hypervariable region compared with patients with genotype II who had responded poorly to interferon treatment. These data suggest that a slow decrease in virus titer during the beginning of interferon treatment and a high degree of sequence variability, both of which are often seen in patients with group II genotype, are associated with poor response to interferon treatment.

Adult↗

PubMed1998

ACE gene polymorphism in childhood IgA nephropathy: association with clinicopathologic findings.

A deletion polymorphism in the angiotensin-converting enzyme (ACE) gene has been reported to be a risk factor for progression to chronic renal failure in immunoglobulin A nephropathy (IgAN). In this study, we investigated the association between ACE gene polymorphism and clinical findings, early biopsy findings such as the extent of mesangial proliferation, focal lesions (capsular adhesions, glomerulosclerosis, and crescents), and the glomerular area in childhood IgAN. Genomic DNA was obtained from 97 patients and control subjects. Gene polymorphisms, consisting of an insertion (I) or deletion (D) of the 287-base pair Alu sequence, were detected using the polymerase chain reaction. The extent of capsular adhesions and glomerulosclerosis was significantly higher in patients with the ID/DD genotypes than in those with the II genotype (ID/DD v II: 8.0%+/-1.4% v 2.5%+/-0.8% [P = 0.017] and 5.1%+/-1.3% v 1.4%+/-0.6% [P = 0.028], respectively). Whereas there was no difference in the extent of mesangial proliferation and crescents between the ID/DD genotypes and the II genotype. Urinary protein excretion at the time of biopsy was significantly greater in patients with the ID/DD genotypes than in those with the II genotype (1.02+/-0.15 g/d/m2 body surface area v 0.56+/-0.13 g/d/m2 body surface area; P = 0.012). These results indicate that ACE gene polymorphism may not influence the extent of mesangial proliferation and crescents that are acute lesions. However, the ID/DD genotypes are associated with chronic lesions, such as capsular adhesions or glomerulosclerosis and urinary protein excretion in childhood IgAN.

Alleles↗

PubMed2002

[Angiotensin-converting enzyme gene polymorphism in patients with primary disturbances of cardiac conduction].

Increased frequencies of angiotensin-converting enzyme (ACE) D-allele and ID-genotype among patients with idiopathic atrioventricular blocks and I allele and II genotype among patients with idiopathic intraventricular blocks allow to consider these genotypes risk factors of corresponding disturbances of cardiac conduction. Decreased frequency of ACE I allele and II genotype among patients with idiopathic atrioventricular blocks is indicative of a possible protective role of II genotype against development of this type of cardiac conduction defect. Low frequency of D allele and genotype D prevents derangements of conduction in His-Purkinje system.

Arrhythmias, Cardiac↗

PubMed1999

Phylogenetic analysis to document a common source of hepatitis D virus infection in a mother and her child.

BACKGROUND: Spread of hepatitis D virus (HDV) from mother to infant is rare and nucleotide evidence to document such transmission is lacking. The aim of this study was to screen the children of HDV-infected parents and compare the HDV nucleotide sequence between children and parents by phylogenetic analysis. METHODS: Fifty-seven children of 28 HDV-infected parents (23 fathers and 5 mothers, including two couples) were enrolled. HDV genomes from sera of HDV-infected parents and their children were cloned and sequenced. Comparison and phylogenetic analysis of HDV genomes were based on a region from nucleotide 911 to 1260. The homology to nucleotide sequence among different genotypes was estimated by phylogenetic analysis. RESULTS: One of the eight children whose mothers were anti-HDV positive was positive for anti-HDV. Mean heterogeneity among different HDV clones from a single subject ranged from 0.29% to 1.15%. HDV sequences from the mother and her child (referred from southern Taiwan) were nearly identical (99.7%), both showed 92.2-93.4% homology with other genotype II isolates from north Taiwan and 76.3-77.1% homology with genotype I isolates. CONCLUSIONS: Genotype II HDV is most prevalent in Taiwan. There are significant variations up to 8% in nucleotide sequence among different genotype II HDV clones isolated from patients in northern and southern Taiwan. Phylogenetic analysis revealed that HDV clones from the mother and her child form a monophyletic group, supporting a common source of infection. Susceptible children of HDV-infected mothers should be protected by hepatitis B virus vaccination and active education.

Female↗

PubMed2000

Angiotensin-converting enzyme gene insertion/deletion (I/D) polymorphism in hypertensive patients with different degrees of obstructive sleep apnea.

To investigate the role of the angiotensin-converting enzyme gene (ACE) insertion (I)/deletion (D) polymorphism in hypertensive patients with different degrees of obstructive sleep apnea (OSA). A case-control study was performed. One hundred seventy four Chinese subjects were divided into four groups depending on the severity of OSA as follows: 1) normal control group (NC, n=68), 2) isolated hypertension group (HT, n=45), 3) hypertensive patients with mild OSA group (MO, n=27), and 4) hypertensive patients with moderate to severe OSA group (MSO, n=34). The distribution of ACE gene I/D allele and genotypes were analyzed in the subject population, as was an OSA pedigree. The study showed that the frequency of ACE gene I/D polymorphism differed significantly among the four groups. The frequency of I allele and II genotype were significantly higher in the MSO group than in the other groups (p<0.05). The distribution of I allele and II genotype showed no significant difference between any of the other groups (p>0.05, respectively). Meanwhile the higher frequency of I allele and II genotype was observed in the OSA pedigree. The higher frequency of ACE gene I allele and II genotype were closely associated with the hypertensive patients with MSO. The inherited factors played an important role in the pathogenesis of hypertensive patients with MSO.

Adult↗

PubMed2003

Influence of oxygen administration on pulmonary haemodynamics and tissue oxygenation during exercise in COPD patients with different ACE genotypes.

We previously found that the angiotensin-converting enzyme (ACE) DD genotype is associated with exaggerated pulmonary hypertension and disturbance of tissue oxygenation during exercise in chronic obstructive pulmonary disease (COPD) patients. This study was designed to compare the effect of oxygen administration on pulmonary haemodynamics and tissue oxygenation during exercise in COPD patients with different ACE genotypes. Forty-three COPD patients (II=16, ID=12, DD=15) underwent right heart catheterization, and then performed an exercise test with room air or oxygen. We measured pulmonary haemodynamic variables and indices of tissue oxygenation such as mixed venous oxygen tension (PVO2) and arterial lactate concentration, both at rest and after exercise. The magnitude of difference in mean pulmonary arterial pressure and pulmonary vascular resistance after exercise between breathing of room air and breathing of oxygen did not significantly differ among the three groups. PVO2 after exercise with room air or oxygen was significantly higher in patients with the II genotype than in those with the ID or DD genotype. In contrast, lactate concentration after exercise with room air or oxygen was significantly lower in patients with the II genotype than in those with the ID or DD genotype. Moreover, the magnitude of difference in PVO2 and lactate concentration after exercise between breathing of room air and breathing of oxygen was the II>ID>DD genotype. These findings suggest that the ability of oxygen administration to improve tissue oxygenation during exercise is associated with the ACE genotypes in COPD patients.

Administration, Inhalation↗

PubMed1998

VO2 max is associated with ACE genotype in postmenopausal women.

Relationships have frequently been found between angiotensin-converting enzyme (ACE) genotype and various pathological and physiological cardiovascular outcomes and functions. Thus we sought to determine whether ACE genotype affected maximal O2 consumption (VO2 max) and maximal exercise hemodynamics in postmenopausal women with different habitual physical activity levels. Age, body composition, and habitual physical activity levels did not differ among ACE genotype groups. However, ACE insertion/insertion (II) genotype carriers had a 6.3 ml . kg-1 . min-1 higher VO2 max (P < 0.05) than the ACE deletion/deletion (DD) genotype group after accounting for the effect of physical activity levels. The ACE II genotype group also had a 3.3 ml . kg-1 . min-1 higher VO2 max (P < 0.05) than the ACE insertion/deletion (ID) genotype group. The ACE ID group tended to have a higher VO2 max than the DD genotype group, but the difference was not significant. ACE genotype accounted for 12% of the variation in VO2 max among women after accounting for the effect of habitual physical activity levels. The entire difference in VO2 max among ACE genotype groups was the result of differences in maximal arteriovenous O2 difference (a-vDO2). ACE genotype accounted for 17% of the variation in maximal a-vDO2 in these women. Maximal cardiac output index did not differ whatsoever among ACE genotype groups. Thus it appears that ACE genotype accounts for a significant portion of the interindividual differences in VO2 max among these women. However, this difference is the result of genotype-dependent differences in maximal a-vDO2 and not of maximal stroke volume and maximal cardiac output.

Body Composition↗

PubMed1997

Association of the angiotensin I converting enzyme gene deletion polymorphism with early onset of ESRF in PKD1 adult polycystic kidney disease.

To determine the effect of the ACE gene insertion/deletion (I/D) polymorphism, angiotensinogen gene M235T polymorphism and the angiotensin 1 receptor gene A1166C polymorphism on the age of onset of end-stage renal failure (ESRF) in PKD1 adult autosomal-dominant polycystic kidney disease (ADPKD), 189 individuals from 46 families with PKD1 were genotyped for each polymorphism. Of the 189 patients 52 (28%) reached ESRF at an average age of 48 +/- 1 year. In patients genotyped for the ACE gene insertion/deletion polymorphism the frequencies of the DD, ID and II genotypes were similar to those expected from Hardy Weinberg equilibrium. In patients with ESRF there was an excess of patients homozygous for the deletion allele (DD: 48% chi2 = 9.97 (1df) P = 0.002). Cumulative renal survival was significantly reduced among those with DD genotype compared to ID and II genotypes. The estimated mean renal survival (95% confidence intervals) were: DD, 52 years [48, 57]; II, 59 years [54, 63]; ID, 64 years [56, 72]; chi2 = 6.13 (1df) P = 0.013, DD versus ID/II. The mean age of renal failure was significantly younger in the DD genotype compared to ID and II genotypes (DD, ID, and II: 44 +/- 2, 49 +/- 2 and 54 +/- 3 years, respectively; P < 0.05 DD vs. ID, P < 0.05 DD vs. II). Ten of the eleven patients who reached ESRF before the age of 40 were homozygous for the deletion allele. The relative risk for ESRF below the age 40 for DD genotype was 17. For all ages there was an overall increased risk of 1.4 for ESRF with the DD genotype. There was no interaction between age of onset of ESRF and either the angiotensinogen M235T allele or angiotensin 1 receptor A1166C polymorphism. This study strongly suggests that PKD 1 patients homozygous for the deletion allele of the ACE gene are at increased risk of developing ESRF at a early age.

Adult↗

PubMed2005

Effect of alpha2B-adrenoceptor polymorphism on peripheral vasoconstriction in healthy volunteers.

BACKGROUND: Alpha-2B adrenoceptor is the vasoconstrictive subtype in the mouse. Human alpha2B-AR deletion (D) allele has been associated with loss of short-term agonist-promoted receptor desensitization, which may lead to increased vasoconstriction on alpha2 activation. The goal of this study was to test the hypothesis that alpha2B-adrenoceptor activation induces enhanced vasoconstriction in carriers of the DD genotype, compared with carriers of the insertion/insertion (II) genotype. METHODS: The authors administered increasing doses of dexmedetomidine (targeting plasma concentrations of 0.15, 0.3, 0.6, and 1.2 ng/ml) to 16 healthy young volunteers (8 carrying the alpha2B DD genotype, 8 carrying the II genotype) in whom sympatholytic effects of the drug were attenuated by general anesthesia. Measurements were made of finger blood volume (an indicator of vasoconstriction) by photoplethysmographic determination of light transmitted through a finger, finger blood flow by venous occlusion plethysmography, and hemodynamic variables. RESULTS: All concentration of dexmedetomidine increased light transmitted through the finger (vasoconstriction) and systolic blood pressure and decreased heart rate in both groups (P < 0.001 for all). Dexmedetomidine reduced finger arterial inflow only in the DD group (P < 0.001). Dexmedetomidine had no effect on finger venous outflow or venous capacitance. There were no significant differences between the II and DD groups in any of the variables. CONCLUSIONS: The results of this study confirm the alpha2 agonist induced vasomotor and hemodynamic effects in peripheral vasculature. However, the results do not support the hypothesis that alpha2B-adrenoceptor polymorphism has an effect on peripheral vasoconstriction in humans.

Adrenergic alpha-Agonists↗

PubMed2006

HLA genotyping supports a nonautoimmune etiology in patients diagnosed with diabetes under the age of 6 months.

Children with permanent diabetes are usually assumed to have type 1 diabetes. It has recently been shown that there are genetic subgroups of diabetes that are often diagnosed during the neonatal period but may present later. A recent Italian study proposed that type 1 diabetes is rare before 6 months of age. We aimed to examine genetic susceptibility to type 1 diabetes in patients diagnosed with diabetes before the age of 2 years. We analyzed HLA class II genotypes, markers of autoimmune diabetes, in 187 children with permanent diabetes diagnosed at <2 years of age. Of the 79 subjects diagnosed at <6 months of age, 41% (95% CI 0.30-0.51) had type 1 diabetes-associated high-risk genotypes, a proportion similar to that in healthy population control subjects (44%, P=0.56). This group included 32 patients with mutations in the KCNJ11 gene, which encodes Kir6.2 (44% high-risk HLA class II genotypes), and 47 in whom the etiology of diabetes was unknown (38% high-risk HLA class II genotypes). Of 108 patients diagnosed between 6 and 24 months of age, 93% (0.86-0.99) had high-risk HLA class II genotypes compared with 44% of the population control subjects (P<0.0001). We conclude that infants diagnosed with diabetes before 6 months of age are unlikely to have autoimmune type 1 diabetes and are most likely to have a monogenic etiology.

Child, Preschool↗

PubMed2003

Prospective evaluation of the effect of an angiotensin I converting enzyme gene polymorphism on the long term risk of major adverse cardiac events after percutaneous coronary intervention.

OBJECTIVE: To evaluate prospectively the influence of an angiotensin I converting enzyme (ACE) gene polymorphism on long term clinical outcome of patients with established coronary artery disease treated by percutaneous coronary intervention. DESIGN AND SETTING: Prospective observational study in a university hospital. PATIENTS: Consecutive series of 1010 patients with symptomatic coronary artery disease who underwent successful coronary stent placement from November 1996 to April 1998. MAIN OUTCOME MEASURES: Long term clinical outcome was obtained and the rates of major adverse cardiac events (death, non-fatal acute myocardial infarction, unstable angina, and revascularisation) were compared according to the insertion/deletion (I/D) polymorphism of the ACE gene. RESULTS: Of the 1010 patients 29% had the DD genotype, 51% had the ID genotype, and 20% had the II genotype. All baseline clinical angiographic and procedural characteristics were identical in the three groups of patients. Event-free survival during the follow up period (median two years) was identical in patients with the II genotype compared to those with one or two D alleles. The predictors of long term survival were age, diabetes, ejection fraction, and extension of coronary artery disease. ACE genotype had no influence on the long term survival. Additional analyses assuming dominant and recessive effects of the D allele also failed to find any association; nor did the examination of low risk subgroups. CONCLUSIONS: The ACE I/D polymorphism does not influence the long term prognosis of patients with coronary disease treated by percutaneous coronary intervention, and screening patients for this gene polymorphism is not useful for secondary prevention strategies.

Aged↗

PubMed2000

Is there an association between angiotensin-converting enzyme gene variants and chronic nonproductive cough?

BACKGROUND: It is unclear why some patients develop a chronic nonproductive cough. Angiotensin-converting enzyme (ACE) inactivates tussive peptides in the airways such as bradykinin and tachykinins. An insertion/deletion polymorphism in the ACE gene accounts for variation in ACE levels, and patients with the II genotype have lowest serum ACE levels compared with ID and DD genotypes. We hypothesized that the II genotype would be associated with increased risk of developing a chronic cough. MATERIALS AND METHODS: We recruited 47 patients (33 women), referred for evaluation of cough (median cough duration, 24 months; range, 2 to 240 months). Cough patients were evaluated using a comprehensive diagnostic protocol, and cough reflex sensitivity was measured using a capsaicin inhalation challenge. ACE genotyping was performed on DNA samples from patients using the polymerase chain reaction followed by agarose gel electrophoresis. ACE genotypes in patients with chronic cough were compared with those in 199 healthy control subjects. Serum ACE levels were determined using a colorimetric assay. RESULTS: Genotype frequencies for the ACE gene were similar between patients and control subjects. There was no correlation between capsaicin sensitivity and ACE genotypes or serum ACE levels. CONCLUSION: Susceptibility to develop chronic cough is not associated with ACE genotype.

Adolescent↗

PubMed2001

Angiotensin converting enzyme gene insertion/deletion polymorphism in idiopathic nephrotic syndrome in Kuwaiti Arab children.

OBJECTIVE: Angiotensin converting enzyme (ACE) gene insertion/deletion (I/D) polymorphism influence the circulating and cellular levels of ACE and has been shown to be a risk factor in a number of diseases including IgA nephropathy. We have investigated the association of ACE gene I/D polymorphism with the clinical presentation of idiopathic nephrotic syndrome (INS) in Kuwaiti children. MATERIALS AND METHODS: The genotypes for ACE gene I/D polymorphism were determined in 102 subjects (54 INS cases and 48 healthy controls) using a PCR method. RESULTS: The distribution of DD, ID and II genotypes was 70%, 20% and 10% in INS cases compared with 52%, 46% and 2% in the controls. The mean age of onset of the disease was significantly lower in the INS cases with DD genotype (37 months) compared with cases with II genotype (65 months, p < 0.05). The clinical manifestation of the disease was considerably severe in cases with DD genotypes compared with cases having ID and II genotypes. The INS cases with DD genotype also showed a significantly higher incidence of steroid sensitivity and steroid dependence. Seventy-three per cent of the INS cases with minimal change lesion had a DD genotype. Also 70% of the cases which needed cytotoxic drugs had DD genotype. CONCLUSION: Our data suggest an association of the D-allele of the ACE gene I/D polymorphism with the clinical manifestation of INS in Kuwaiti Arab children.

Child↗