Search results for "FREQUENCY"
showing 10 items of 2158 documents
Common missense variant in the glucokinase regulatory protein gene is associated with increased plasma triglyceride and C-reactive protein but lower …
2008
OBJECTIVE—Using the genome-wide association approach, we recently identified the glucokinase regulatory protein gene (GCKR, rs780094) region as a novel quantitative trait locus for plasma triglyceride concentration in Europeans. Here, we sought to study the association of GCKR variants with metabolic phenotypes, including measures of glucose homeostasis, to evaluate the GCKR locus in samples of non-European ancestry and to fine- map across the associated genomic interval. RESEARCH DESIGN AND METHODS—We performed association studies in 12 independent cohorts comprising >45,000 individuals representing several ancestral groups (whites from Northern and Southern Europe, whites from the …
PLA1/A2 polymorphism of the platelet glycoprotein receptors IIIA in Behçet's disease
2010
OBJECTIVES: To investigate potential associations between the PlA1/A2 polymorphism of the platelet glycoprotein receptor IIIA (GpIIIa) gene and venous thrombosis and other clinical manifestations in Italian patients with Behçet's disease (BD). METHODS: Two hundred consecutive Italian patients satisfying the International Study Group criteria for BD who were followed up for seven years and 241 healthy Italian age- and gender-matched blood donors were molecularly genotyped for the PlA1/A2 polymorphism of the platelet GpIIIa gene; 118 and 117 of the 200 BD patients were also respectively genotyped for factor V Leiden and prothrombin gene G20210A polymorphisms. A standard microlymphocytotoxicit…
Role of APOBEC3H in the Viral Control of HIV Elite Controller Patients
2017
Background APOBEC3H (A3H) gene presents variation at 2 positions (rs139297 and rs79323350) leading to a non-functional protein. So far, there is no information on the role played by A3H in spontaneous control of HIV. The aim of this study was to evaluate the A3H polymorphisms distribution in a well-characterized group of Elite Controller (EC) subjects. Methods We analyzed the genotype distribution of two different SNPs (rs139297 and rs79323350) of A3H in 30 EC patients and compared with 11 non-controller (NC) HIV patients. Genotyping was performed by PCR, cloning and Sanger sequencing. Both polymorphisms were analyzed jointly in order to adequately attribute the active or inactive status of…
MDM2 and CDKN1A gene polymorphisms and risk of Kaposi's sarcoma in African and Caucasian patients
2010
A single-nucleotide polymorphism in the MDM2 promoter (SNP309; rs2279744) causes elevated transcription of this major negative regulator of p53 in several cancer types. We investigated MDM2 SNP309 and CDKN1A (p21/Waf1/Cip1) codon 31 (rs1801270) polymorphisms in 86 cases of cutaneous Kaposi's sarcoma (KS) from African and Caucasian patients, and 210 healthy controls. A significant increase of the MDM2 SNP309 T/G genotype was observed among classic KS cases (odds ratio 2.38, 95% confidence interval 1.0-5.5). Frequencies of CDKN1A codon 31 genotypes were not significantly different between cases and controls. The results suggest that the MDM2 SNP309 G allele may act as a susceptibility gene fo…
Effect of undersized drilling on the stability of immediate tapered implants in the anterior maxillary sector. A randomized clinical trial.
2020
Background To evaluate the effect of undersized drilling on the primary and secondary stability of immediate implants placed in the anterior maxilla. Material and Methods A comparative randomized clinical trial was carried out in 30 healthy adults. Thirty tapered implants, 16 involving conventional drilling and 14 undersized drilling, were placed immediately after anterior maxillary tooth removal. Insertion torque and implant stability assessed by resonance frequency analysis (RFA) were evaluated at three different timepoints: at implant placement and 6 and 12 weeks post-implantation. The results were compared using parametric statistical tests. Results All implants showed adequate stabilit…
Imaging findings of liver resection using a bipolar radiofrequency electrosurgical device—Initial observations
2010
Abstract Objective To assess contrast-enhanced US (CEUS), computed tomography (CT) and magnetic resonance (MR) imaging findings and serial changes of the treated area at follow-up in patients who underwent liver resection using a bipolar radiofrequency electrosurgical device. Methods Imaging findings of 27 patients with resected hepatocellular carcinomas (HCCs) ( n = 24) and metastases ( n = 3) (mean size: 2.6 cm), were retrospectively evaluated. Two readers assessed: the (a) presence, (b) thickness, (c) shape and (d) echogenicity (CEUS)/attenuation (CT)/signal intensity (MR imaging) at coagulated site and the (e) presence of residual tumor of the bipolar radiofrequency electrosurgical de…
Investigations on the population genetics of the alpha-1-antitrypsin polymorphism.
1970
The results of Pi-typing on 2647 individuals from 9 populations are reported. Of the 17 phenotypes and 9 alleles described in literature, we found 12 phenotypes and 8 alleles. The population smaples differ characteristically in their allele frequencies. The allle PiM appears constantly in all populations tested with a frequency of more than 0.85. The alleles PiF (0.01–0.11), PiS (0.01–0.02) and PiZ (0.01–0.02) were also relatively frequent in all samples. All the other alleles remain below 0.01. A great increase in the number of Pi-variants was observed in the Central European area. The frequency of α1-at variants in various populations is discussed.
Pseudocholinesterases and human red cell acid phosphatases in Koreans.
1969
The authors reveal the results of pseudocholinesterase and human red cell acid phosphatase typings in a sample of 115 unrelated female Koreans aged from 20–30. No atypical pseudocholinesterase variants could be demonstrated. The frequencies of human red cell acid phosphatase alleles run up to: phA=0.231, phB=0.769, phC=0.000.
Can colours be used to segment words when reading?
2015
Rayner, Fischer, and Pollatsek (1998, Vision Research) demonstrated that reading unspaced text in Indo-European languages produces a substantial reading cost in word identification (as deduced from an increased word-frequency effect on target words embedded in the unspaced vs. spaced sentences) and in eye movement guidance (as deduced from landing sites closer to the beginning of the words in unspaced sentences). However, the addition of spaces between words comes with a cost: nearby words may fall outside high-acuity central vision, thus reducing the potential benefits of parafoveal processing. In the present experiment, we introduced a salient visual cue intended to facilitate the process…
Association study of suicidal behavior and affective disorders with a genetic polymorphism in ABCG1, a positional candidate on chromosome 21q22.3
2000
The gene that codes for the ABC transporter ABCG1 is located in a chromosomal susceptibility region (21q22.3) for affective disorders. Genetic variations in ABCG1 have been associated with affective disorders in Japanese males. In this study, we investigated the distribution of a G2457A polymorphism in patients with affective disorders, suicide attempters with various psychiatric diagnoses and healthy subjects. We initially found a trend towards a modest association with affective disorders in males (p = 0.046 for allele frequencies and p = 0.046 for AA versus GG). We conducted a replication study with independent patients and controls. There was no association with affective disorders, eit…