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At least 235 records · Page 13Linked to original sources
PubMed2005

Performance of drug-resistance genotypic assays among HIV-1 infected patients with predominantly CRF02_AG strains of HIV-1 in Abidjan, Cote d'Ivoire.

OBJECTIVE: We evaluated the performance of three genotypic assays to detect resistant mutations among HIV-1 infected patients with known antiretroviral drug resistance profile in Abidjan, Cote d'Ivoire, most of whom had the circulating recombinant form (CRF02_A/G) of HIV-1. METHODS: The 56 patients analyzed in this study were enrolled in a pilot program to make available antiretroviral therapy (ART) to HIV-infected patients in Abidjan through the UNAIDS Drug Access Initiative (DAI). These patients had failed ART, as demonstrated by rebound in RNA viral load. Their plasma samples had been previously analyzed for ART genotypic drug-resistance by VircoGEN (Mechelen, Belgium) and were known to have primary and secondary resistance mutations, and also had phenotypic drug-resistance by a recombinant virus assay technology (Mechelen, Belgium). The two assays we evaluated were: VircoGEN, TruGene HIV-1, and ViroSEQ HIV-1 assays. RESULTS: For the reverse transcriptase gene, all 27 samples that had the T215Y/F mutation were detected by VircoGEN , ViroSEQ, and TrueGene. All 19 (100%) samples that had the K70R/E mutation detected by VircoGEN were detected by ViroSEQ, and 18 (94.7%) by TrueGene. All ten samples with the M184V mutation, three with the K65R, two with the G190A mutation, one with the K103N mutation, and one with the V75T mutation were detected similarly by all three assays. For the protease gene, all three assays detected the I84V (n = 1), M46I (n = 1), and L90M (n = 1) mutations. CONCLUSION: These results suggest that any of these assays should be considered for monitoring the occurrence of drug resistance among HIV-infected patients receiving antiretroviral therapy in West Africa.

Anti-HIV Agents↗
PubMed2001

G-protein beta3 subunit C825T polymorphism: no association with risk for hypertension and obesity.

OBJECTIVE: Several recent studies have indicated that a C825T polymorphism in the gene encoding the G-protein beta3 subunit is a significant risk factor for hypertension and obesity. In this study, we tested whether this polymorphism is associated with hypertension and obesity in white men. DESIGN: Population-based prospective cohort study. METHODS: We followed a cohort of 903 men, aged 42-61 years at baseline, for an average time of 4.2 years. Genotyping was performed by polymerase chain reaction. RESULTS: The genotype distribution was in Hardy-Weinberg equilibrium: 514 (57%) had the CC genotype, 49 (5%) had the TT genotype and 340 (38%) were heterozygous (T:C = 0.24:0.76). There was no statistically significant difference between the genotype groups in respect to baseline and end of follow-up risk for hypertension or obesity, systolic or diastolic blood pressure, or body mass index. CONCLUSION: We conclude that the C825T polymorphism of the G-protein beta3 subunit gene does not notably contribute to the development of hypertension or obesity, and is not a significant determinant for blood pressure and body mass index in white men.

Adult↗
PubMed2004

BanI polymorphism of the cytosolic phospholipase A2 gene and mood disorders in the Korean population.

Membrane phospholipid abnormalities have been proposed to be involved in the pathogenesis of mood disorders, and in signal transduction and neurotransmitter uptake. Cytosolic phospholipase A2 (cPLA2) is not only an essential enzyme in the metabolism of fatty acids but also in signaling process. Therefore, we examined the association between the BanI polymorphism of the cPLA2 gene and mood disorders. Sixty-two patients with major depressive disorder (MDD), 50 patients with bipolar I disorder (BID) and 117 healthy controls participated in this study. Genotyping was performed by using PCR-based methods. Genotype and allele distributions in MDD patients were significantly different from those of the controls. In particular, the A2 allele was associated with increased risk of MDD development (p = 0.007, odds ratio = 1.827; confidence interval = 1.141-2.927). However, the polymorphism was not different between BID patients and controls in genotype and allele distribution. This preliminary study indicates the need for further studies on the potential role of the cPLA2 gene polymorphism in the susceptibility to mood disorders.

Adult↗
PubMed2004

Effects of acute lorazepam administration on aminergic activity in normal elderly subjects: relationship to performance effects and apolipoprotein genotype.

The effects of acute lorazepam challenges on plasma (p) HVA, MHPG, and 5-HIAA, and their relationship to drug-induced cognitive and motor deficits and the apolipoprotein (APOE)-epsilon4 allele were examined. Eighteen healthy elderly (8 epsilon4 carriers) received placebo or acute oral lorazepam doses (0.5 mg or 1 mg) in random sequence, 1-week apart. Cognitive assessment and plasma levels of pHVA, pMHPG, and p5-HIAA were determined at baseline and at 1, 2.5, and 5 h postchallenge. There was no drug-to-placebo difference in monoamine levels and no consistent relationship between changes in monoamine levels and cognitive performance, regardless of epsilon4 status. However, the 1.0 mg dose increased p5-HIAA in epsilon4 carriers, whereas it caused a reduction in noncarriers. Higher baseline pMHPG and p5-HIAA levels were associated with better baseline memory. The epsilon4 allele may modulate the effect of lorazepam on p5-HIAA, but further studies are needed to confirm this finding and elucidate its possible significance.

Aged↗
PubMed1999

Relationship among genotype, biochemical phenotype, and cognitive performance in females with phenylalanine hydroxylase deficiency: report from the Maternal Phenylketonuria Collaborative Study.

OBJECTIVE: To examine the relationship of phenylalanine hydroxylase (PAH) genotypes to biochemical phenotype and cognitive development in maternal phenylketonuria (PKU). METHODOLOGY: PAH gene mutations were examined in 222 hyperphenylalaninemic females enrolled in the Maternal PKU Collaborative Study (MPKUCS). A total of 84 different mutations were detected, and complete genotype was obtained in 199 individuals. Based on previous knowledge about mutation-phenotype associations, 78 of the mutations could be assigned to one of four classes of severity (severe PKU, moderate PKU, mild PKU, and mild hyperphenylalaninemia [MHP]). Then, 189 MPKUCS subjects were grouped according to the various combinations of mutation classifications. The sample sizes were large enough for statistical testing in four groups with at least one mutation that completely abolishes enzyme activity. These patients are considered functionally hemizygous. RESULTS: The biochemical phenotype predicted from the genotype in functionally hemizygous patients was related significantly to the assigned phenylalanine level. Cognitive performance (IQ) was also significantly related to genotype. The IQ of PAH-deficient mothers with a severe PKU mutation in combination with a MHP mutation or a mild PKU mutation was 99 and 96, respectively, whereas the IQ of PKU mothers with two severe PKU mutations or with one severe and one moderate PKU mutation was 83 and 84, respectively. Of the patients with PKU, 92% had been treated during childhood. Those who were untreated or treated late had lower than average IQ scores for their group of mutation combinations. Females with moderate or mild PKU who were treated early and treated for >6 years showed IQ scores 10 points above average for their group. CONCLUSIONS: The reproductive outcome in maternal phenylketonuria is dependent on prenatal metabolic control and postnatal environmental circumstances. Both factors depend on the intellectual resources of the mother with PKU. The significant relationship among genotype, biochemical phenotype, and cognitive performance observed in the present study is of importance for the development of an optimal strategy for future treatment of females with PKU who plan pregnancy.

Female↗
PubMed2006

Influence of genotype and diet on steer performance, manure odor, and carriage of pathogenic and other fecal bacteria. I. Animal performance.

Although Brahman crosses constitute a large portion of US beef cattle, little information is available on their response to diverse feed resources compared with Bos taurus steers. Thus, the objectives were to evaluate genotype and diet effects on steer performance during the growing period and subsequent response to a high grain diet during the finishing period. Fifty-one steers [0 (15), 1/4 (20), 1/2 (7), and 3/4 Brahman (9), with the remaining proportion being MARC III] were allotted to 8 pens. Beginning on December 2, steers were individually fed chopped bromegrass hay (n = 26; DM = 85%, CP = 9.5%, ME = 2.19 Mcal/kg) or a corn silage-based diet (n = 25; DM = 51%, CP = 11.9%, ME = 2.75 Mcal/kg) for 119 d. All steers were then fed a high corn diet (DM = 79%, CP = 11.7%, ME = 3.08 Mcal/kg) to a target BW of 560 kg (176 d). Data were analyzed by ANOVA, with genotype, growing diet, and the 2-way interaction included. The interaction was not significant (P > 0.25). The MARC III and 1/2 Brahman steers weighed more (P < 0.01) than 1/4 or 3/4 Brahman steers initially and at the end of the growing period. Weight of bromegrass-fed (325 kg) steers was less than that of corn silage-fed (384 kg) steers at the end of the growing period. Steer ADG and intake of DM, CP, and ME were less (P = 0.087 to 0.001) for 1/4 and 3/4 Brahman than for 0 or 1/2 Brahman steers during growing, finishing, and total, but efficiency of gain did not differ (P > 0.10). Carcass weight, marbling score, quality grade (P < 0.05), and kidney fat (P = 0.06) differed among genotypes. Daily DMI (6.91 vs. 7.06 kg) was similar, but CP (0.66 vs. 0.84 kg) and ME (15.2 vs. 19.4 Mcal) intake of bromegrass fed was less (P = 0.001) than those of corn silage-fed steers. Values for DMI/gain (22.3 vs. 7.43 kg/kg), CP intake/gain (2.13 vs. 0.88 kg/kg), and ME intake/gain (48.8 vs. 20.4 Mcal/kg) were greater (P < 0.001) in bromegrass-fed than corn silage-fed steers. Over the total study, ADG was lower (0.96 vs. 1.01 kg), and DMI (7.82 vs. 7.19 kg), DMI/gain (8.21 vs. 7.10 kg/kg), and ME intake/gain (22.6 vs. 20.9 Mcal/kg) were greater (P < 0.05) in bromegrass-fed than in corn silage-fed steers. Carcass weight, dressing percent, adjusted backfat, and yield grade (P < 0.05) were greater for corn silage-fed than for bromegrass-fed steers. Feed intake and performance, but not efficiency, differed among these genotypes. Compensatory performance during finishing was insufficient to overcome reduced performance during the growing period.

Animal Feed↗
PubMed2000

Prenatal genotyping for the RhD blood group antigen: considerations in developing an accurate test.

Experience performing prenatal genotyping for RHD has shown that consideration must be given to developing a molecular test capable of detecting recombination/gene conversion events involving the RHD and RHCE genes that can lead to erroneous results. Out of 50 prenatal RHD tests performed over the past 5 years, four samples were encountered that gave false-positive results. In only one of the tests, incorrect results were issued to the physician. In the other three instances, the erroneous nature of the test results was revealed through the analysis of multiple regions of the RHD gene and, more importantly, because the mother, and sometimes the father, were tested in parallel with the fetus. In an extension of the observations obtained from the prenatal testing program, a large panel of RhD-negative blood donors were subjected to molecular analysis of the RHD gene. Of 1,183 donors screened, 187 were found to phenotype as RhD negative. Of the 187 donors confirmed RhD negative serologically, 22 (11.8%) were found to retain remnants of the RHD gene that, depending upon the characteristics of the molecular assay performed, could lead to a false-positive result in a genotyping assay. On the basis of the experience presented here, it is recommended that any molecular RHD assay include an analysis of multiple areas of the RHD gene so as to allow for the detection of recombination/gene conversion events between the RHD and RHCE genes. Moreover, it is strongly recommended that the mother (at a minimum) and father be subjected to molecular analysis simultaneously with the fetus to confirm that the known phenotypes of the parent(s) are consistent with their respective genotypes.

Exons↗
PubMed2004

Performance of ViroSeq HIV-1 Genotyping System in routine practice at a Belgian clinical laboratory.

Since there are indications of an increasing amount of non-B subtypes in Western Europe it was decided to assess the performance of the ViroSeq HIV-1 Genotyping System on a set of samples from the AIDS Reference Laboratory at the University Hospitals Leuven, a hospital with an increasing number of patients infected with non-B subtypes. The set consisted of 383 samples comprising 12 different subtypes and the genotyping kit was assessed for its amplification capabilities as well as its sequencing capabilities. Amplification failed in 32 samples (8.4%) and there was a tendency of a lower performance of the kit when it concerned the amplification of non-B subtypes. Regarding the sequencing performance of the HIV-1 Genotyping System, three different results could be considered. The performance of the entire set of primers (A, B, C, F, G and H) on the different subtypes showed a significant decrease of positive results for subtypes A, G and the recombinants whereas a tendency to less positive results could be detected for subtypes CRF12_BF, D, H and J. When looking at the performance of the individual primers for the different subtypes, only one result differed significantly: there were less positive results by applying primer F on subtype A. A tendency to less positive results was found for other combinations of primer and subtype, most of which comprised combinations with primers B, C, F and H. A final result was obtained by comparing the overall sequencing results of a certain primer on all the non-B subtypes with the results of the same primer on subtype B. Primer F showed significant less positive results and a tendency to less positive results was found for primer H. The other primers showed comparable results. All of the above results regarding the sequencing primers did not include primer D since this is a back-up primer for primer A. Analysis of the results for primer D showed that less positive results were found for all the non-B subtypes, most of which were significant. The overall performance of primer D on all non-B subtypes was only 15.7%. The use of primer D as a back-up primer was also investigated: it generated a positive result in only 17.3% of the cases where primer A failed. Most of these positive results were subtype B (74%). As a result of sequencing problems 65 out of 351 (18.5%) samples had to be processed with "in-house" procedures.

Belgium↗
PubMed2001

A highly prevalent polymorphism at codon 72 of HIV-1 reverse transcriptase in Argentina prevents hybridization reaction at codon 74 in the LiPA genotyping test.

The aim of this study was to compare the performance of two commercial drug-resistance HIV-1genotyping kits: LiPA (Innogenetics, Belgium) and TruGene (Visible Genetics, Canada). Samples from 103 HIV-1 infected individuals from Argentina were studied. The average correlation between the two methods was 92.81%. More codons could be analysed by TruGene than by LiPA (610/618 and 541/618 codons, respectively). The sequences of the samples and the LiPA probes were aligned showing that a silent mutation at codon 72 (AGA-->AGG) of the HIV-1 reverse transcriptase, which was not recognised by the LiPA probes, was present in 35/36 non-reactive samples for position 74. The overall prevalence of this polymorphism in the population studied was 39.81%. When sequences from different parts of the world were analysed 189/3395 (5.63%) carried the mutation at codon 72, while 23/133 (17.29%) of the sequences from Latin America (excluding Argentina) had this mutation. In both cases, the prevalence of this polymorphism in the Argentinean population was significantly higher. This highlights the importance of carrying out studies on the performance of genotyping kits outside the United States and Europe, especially in areas where non-B HIV-1 subtypes are prevalent.

Argentina↗
PubMed2004

Apolipoprotein E genotyping in the Malay, Chinese and Indian ethnic groups in Malaysia-a study on the distribution of the different apoE alleles and genotypes.

BACKGROUND: Apolipoprotein E (apoE) is encoded by a polymorphic gene located on chromosome 19. The three common apoE alleles are epsilon2, epsilon3 and epsilon4. We studied the frequencies of the apoE alleles and genotypes in the three ethnic groups-Malay, Chinese and Indian-in Malaysia using DNA amplification followed by agarose gel electrophoresis. METHODS: EDTA blood was collected and DNA was extracted using proteinase K-SDS digestion and purified by phenol-chloroform extraction. The apoE gene sequence was amplified using the PCR and apoE genotyping was performed by restriction enzyme digestion with HhaI. RESULTS: Genotyping of the apoE gene produces six genotypes-E2/E2, E2/E3, E3/E3, E2/E4, E3/E4 and E4/E4. The most common apoE genotype in the Malays, Chinese and Indians studied was E3/E3, thus the most common apoE allele was epsilon3. The three common apoE genotypes were E3/E3 followed by E3/E4 and E2/E3, except in the Indians where E2/E3 was not detected. The three apoE alleles were confirmed in the Malays, Chinese and Indians except for the epsilon2 allele which was absent in the Indians. CONCLUSION: The combined frequency of the apoE alleles in the Malays, Chinese and Indians was 0.058, 0.829 and 0.114 for epsilon2, epsilon3 and epsilon4, respectively.

Alleles↗
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↗
PubMed1999

Hepatitis C virus genotypes in France: relationship with epidemiology, pathogenicity and response to interferon therapy. The GEMHEP.

The aim of this study was to investigate the following in a large population of French patients with chronic hepatitis C: the geographical distribution of hepatitis C virus (HCV) genotypes; the relationship between HCV genotypes and epidemiological characteristics; severity of the disease; and response to interferon (IFN) therapy. Data from 14 tertiary referral centres, corresponding to 1872 patients with chronic hepatitis C, were prospectively collected from 1989 to 1997. HCV genotyping was performed using the line probe assay (LiPA). HCV genotypes 1b, 3, 1a, 2, 4 and a mixed infection were found in 41%, 22%, 16%, 11%, 4% and 4% of our population, respectively. HCV genotype distribution was homogeneous, except for genotype 2 that was found more frequently in the southwest than in the other regions (21% vs 9.2%) (P=0.001). HCV distribution was associated with gender, age, and source and duration of infection. In multivariate analysis, these correlations were related to the source of infection, which was the only independent factor significantly associated with genotype (P=0.001). Genotype 1b was significantly more common in patients with cirrhosis, but in multivariate analysis cirrhosis was independently related to older age at exposure and longer duration of infection (P=0.001). A sustained response to IFN therapy was observed in 11% of patients infected with genotypes 1a or 1b vs 32% of those infected with genotypes 2 or 3 (P=0.001). This study shows that HCV genotype is mainly related to the source infection, but not to the intrinsic pathogenicity of HCV, and is a strong predictor of sustained response to therapy.

Adult↗
PubMed2002

Methylenetetrahydrofolate reductase genotype, vitamin B12, and folate influence plasma homocysteine in hemodialysis patients.

Hyperhomocysteinemia, a well-recognized cardiovascular risk factor, is frequent in hemodialysis (HD) patients. A common polymorphism in the 5,10-methylenetetrahydrofolate reductase (MTHFR) gene, C-->T substitution at nucleotide 677, is associated with homocysteine (Hcy) level elevation. We examined whether three factors involved in the methionine cycle could influence plasma Hcy concentrations in HD patients: MTHFR polymorphism; vitamin B12, an essential cofactor; and folate, the substrate. In a cross-sectional study, serum vitamin B12, folate, and plasma Hcy were measured and MTHFR genotyping was performed in 534 HD patients. Effects of MTHFR genotypes, vitamin B12, and folate on plasma Hcy levels were examined in 450 HD patients not administered vitamin B12 or folate. To examine the effect of vitamin B12 on plasma Hcy concentrations, we compared plasma Hcy concentrations in HD patients with and without vitamin B12 supplementation. To examine whether functional vitamin B12 deficiency exists even in HD patients with normal vitamin B12 concentrations, 15 HD patients (serum vitamin B12 concentrations, 250 to 2,100 pg/mL) were treated with vitamin B12 (mecobalamin, 1.5 mg/d) for 8 weeks. Serum concentrations of methylmalonic acid (MMA) and vitamin B12 were measured. Hcy levels were higher and folate levels were lower in patients with the TT and CT genotypes compared with patients with the CC genotype. Analysis of covariance to determine independent predictors of high Hcy levels identified low serum vitamin B12 and folate levels and high albumin (Alb) levels in CC-genotype patients, low folate levels and high Alb levels in CT-genotype patients, and low folate levels in TT-genotype patients. Plasma Hcy levels were lower in CC- and CT-genotype patients with vitamin B12 supplementation than in those without supplementation. Vitamin B12 supplementation for 8 weeks significantly reduced MMA concentrations in HD patients with normal serum vitamin B12 concentrations. These results indicate that MTHFR genotype influences the correlation of Hcy level with vitamin B12 and folate levels in HD patients. Functional vitamin B12 deficiency may exist, even in HD patients with normal vitamin B12 concentrations. The efficacy of vitamin B12 and folate supplementation on plasma Hcy levels may depend on MTHFR genotype.

Cross-Sectional Studies↗
PubMed1998

Recurrent pneumococcal bacteremia: 34 episodes in 15 patients.

Thirty-four episodes of pneumococcal bacteremia were identified in 15 patients over 5 years in 10 hospitals in Franklin County, Ohio. Twelve patients each had 2 episodes of pneumococcal bacteremia, 2 had 3, and 1 had 4. All patients had predisposing conditions, with lymphoma, multiple myeloma, and chronic obstructive pulmonary disease being the most frequent. The mean interval between the first and second episode was 268 days. Serotyping and genotyping were performed on 29 isolates. The same serotypic and genotypic patterns were found for sequential isolates from four patients; three of these patients had a recurrence between 22 and 90 days after a previous episode. Seven (24%) of the 29 isolates were serotype 23F; four isolates (14%) were not susceptible to penicillin. All of our patients received appropriate antimicrobial therapy and appeared to be clinically cured of their initial infection. For patients with recurrent pneumococcal disease, alternate preventive measures such as immunization with conjugate pneumococcal vaccine and/or prophylactic antibiotic therapy should be considered.

Adult↗
PubMed2006

Performance of different broiler genotypes fed diets with varying levels of dietary crude protein and lysine.

Two experiments were conducted to determine if a 3-way interaction among genotype, dietary lysine, and CP is an important influence on dietary responses. The genotypes were Ross 308 and Cobb in experiment 1 and Ross 508 and Arbor Acres Classic in experiment 2. The experimental designs were completely randomized with an incomplete 2 x 2 x 3 factorial arrangement of treatments. On d 7 of experiment 1, 4 replicate pens of 6 chicks each were fed 1 combination of dietary lysine and CP (17% CP with 0.6, 0.7, and 0.8% lysine and 23% CP with 0.7, 0.8, and 0.9% lysine) until d 21. On d 17 of experiment 2, 4 replicate pens of 35 chicks each were fed 1 combination of dietary lysine and CP (17% CP with 0.7, 0.8, and 0.9% lysine and 23% CP with 0.8, 0.9, and 1.0% lysine) until d 42. On d 43 of experiment 2, 3 birds per pen were processed. Regression analysis showed differences (P < 0.05) due to genotype for body weight gain (BWG), feed intake, and feed conversion ratio (FCR) in experiment 1, and BWG, carcass yield, breast fillet and tender yields, and abdominal fat pad percentage in experiment 2. Increasing dietary CP decreased abdominal fat pad percentage in both experiments; however, increasing dietary lysine only decreased this parameter in the starter-phase chicks. In both experiments, Ross broilers had a greater response to supplemental lysine when 17% CP was fed, but less response to supplemental lysine when 23% CP was fed for both BWG and FCR (3-way interaction). Three-way interactions between dietary CP and lysine levels and genotype were observed for BWG (P < 0.01), feed intake (P < 0.01), and FCR (P < 0.02) in experiment 1 and for feed intake (P < 0.06) and FCR (P < 0.03) in experiment 2. The 3-way interactions demonstrate that quantitative differences exist between genotypes in response to increasing dietary levels of CP and lysine.

Adipose Tissue↗
PubMedDate not supplied

Inheritance of two HFE mutations in African Americans: cases with hemochromatosis phenotypes and estimates of hemochromatosis phenotype frequency.

PURPOSE: Two unrelated African Americans had hemochromatosis phenotypes and genotypes. We sought to identify origins of their HFE mutations and estimate frequencies of similar cases. METHODS: HFE and HLA genotyping were performed in index cases and family members. HFE genotypes of 1,373 African American controls in five regions were tabulated. RESULTS: Index cases had C282Y/C282Y and C282Y/H63D, respectively; each corresponding Ch6p was likely of Caucasian origin. In controls, frequencies of hemochromatosis-associated genotypes were as follows: C282Y/C282Y, 0.00011; C282Y/H63D, 0.00067; and H63D/H63D, 0.00101. CONCLUSIONS: Penetrance-adjusted estimates indicate that approximately 9 African Americans per 100,000 have a hemochromatosis phenotype and two common HFE mutations. Hemochromatosis-associated genotype frequencies varied 11.7-fold across regions.

Adult↗
PubMedDate not supplied

Association between TNF-alpha -308G>A polymorphism and the development of acute coronary syndromes in Greek subjects: the CARDIO2000-GENE Study.

PURPOSE: We investigated the association of a polymorphism within the promoter of TauNuF-alpha locus at the position -308 on the likelihood of having acute coronary syndromes (ACS) in Greek adults. METHODS: We studied demographic, lifestyle, and clinical information in 237 hospitalized patients (185 males) with a first event of an ACS and 237 matched by age and sex (controls) without any clinical evidence of coronary heart disease. Genotyping was performed by PCR-RFLP analysis. RESULTS: The genotype frequencies were in patients, 87% (n = 206), 12% (n = 29), and 1% (n = 2) for G/G, G/A, and A/A, and in controls, 96% (n = 227), 4% (n = 10), and 0% (n = 0) for G/G, G/A, and A/A, respectively (P = 0.04). After adjusting for age and sex, as well as various potential confounders, we observed that G/A or A/A genotypes were associated with 1.94-fold higher odds (95% CI 1.06 to 3.68) of ACS compared to G/G homozygotes. No gene to-gender or to-clinical syndrome interactions were observed. Further subgroup analysis showed that the distribution of TNF-alpha -308G>A polymorphism was associated with the presence of family history of CHD in patients, but not in controls. In particular, in G/A and A/A patients 17.2% reported family history of CHD, whereas in G/G patients, 34.5% reported family history (P = 0.036). CONCLUSIONS: Our findings may state a hypothesis of an association between the -308G>A TNF-alpha polymorphism the development of ACS and the presence of family history of CHD, in Greece.

Acute Disease↗
PubMed2004

Genotypes of the Helicobacter pylori vacA signal sequence differ with age in Korea.

BACKGROUND: Studies on Helicobacter pylori genotypes have focused on adults in developed countries, and data on the genotypes of Helicobacter pylori recovered from the children are rare. MATERIALS AND METHODS: One hundred and twenty-eight biopsy samples from patients with H. pylori infection were studied. The patients' ages ranged from 9 to 83 years. PCR analysis for vacA genotypes was performed using DNA extracted from biopsy specimens. RESULTS: Genotyping of the s-region showed s1a in 33 (25.8%) samples and s1c in 82 (64.1%) samples. When the specimens were grouped by age, the distribution of s-region genotype was found to be significantly different between groups (p = .002). The prevalence of s1a was 45.2% in patients < 20 years old, but 14.9% in patients > or = 50 years old. On the other hand, the prevalence of s1c or recombinant s1a-s1c was higher in those > or = 50 years old. The distribution of the m-region did not differ significantly with age (p = .110). CONCLUSIONS: Strain populations infecting Korean adults and children differ.

Adolescent↗