Search results for "Allele frequency"

showing 10 items of 224 documents

Research Article <i>CD40</i> rs4810485 <i>T>G</i> polymorphism and susceptibility to ankylosing spondylitis in the Latvian…

2018

Ankylosing spondylitis (AS) is a potentially disabling form of a systemic chronic inflammatory arthritis affecting mainly the axial skeleton, with or without extraspinal manifestations. The genetic basis of AS is partly known. Moreover, many autoimmunityrelated genes have pleiotropic effects. Multiple functional polymorphisms in the genes encoding the tumor necrosis factor (TNF) superfamily of cytokines, their receptors, and signaling proteins, are associated with susceptibility to autoimmune diseases. These arguments prompted us to conduct a study evaluating a possible association of single nucleotide polymorphism (SNP) rs4810485 of the CD40 gene, found previously to be involved in other i…

030203 arthritis & rheumatology0301 basic medicineeducation.field_of_studyAnkylosing spondylitisbusiness.industryInflammatory arthritisPopulationSingle-nucleotide polymorphismGeneral Medicinemedicine.diseaseMinor allele frequency03 medical and health sciences030104 developmental biology0302 clinical medicineGenotypeImmunologyGeneticsmedicineGene polymorphismAlleleeducationbusinessMolecular BiologyGenetics and Molecular Research
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Genome-wide association study of diabetic kidney disease highlights biology involved in renal basement membrane collagen

2018

Diabetic kidney disease (DKD) is a heritable but poorly understood complication of diabetes. To identify genetic variants predisposing to DKD, we performed genome-wide association analyses in 19,406 individuals with type 1 diabetes (T1D) using a spectrum of DKD definitions basedon albuminuria and renal function. We identified 16 genome-wide significant loci. The variant with the strongest association (rs55703767) is a common missense mutation in the collagen type IV alpha 3 chain(COL4A3)gene, which encodes a major structural component of the glomerular basement membrane (GBM) implicated in heritable nephropathies. The rs55703767 minor allele (Asp326Tyr) is protective against several definit…

0303 health sciencesGlomerular basement membraneRenal function030209 endocrinology & metabolismGenome-wide association studyBiologyurologic and male genital diseasesmedicine.diseaseBioinformatics3. Good healthMinor allele frequencyPathogenesis03 medical and health sciences0302 clinical medicinemedicine.anatomical_structureDiabetes mellitusAlbuminuriamedicineMissense mutationmedicine.symptom030304 developmental biology
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2015

Growing number of evidences have suggested that oral fat sensing, mediated by a glycoprotein CD36 (cluster of differentiation 36), plays a significant role in the development of obesity. Indeed, a decreased expression of CD36 in some obese subjects is associated with high dietary fat intake. In the present study, we examined whether an increase in body mass index (BMI) is associated with altered oleic acid lingual detection thresholds and blood lipid profile in young Algerian teenagers (n = 165). The obese teenagers (n = 83; 14.01 ± 0.19 years; BMI z-score 2.67 ± 0.29) exhibited higher lingual detection threshold for oleic acid than lean participants (n = 82, 13.92 ± 0.23 years; BMI z-score…

2. Zero hungermedicine.medical_specialtyNutrition and DieteticsbiologyCD36Blood lipidsmedicine.diseaseObesityEndocrinologyInternal medicineGenotypemedicinebiology.proteinGene polymorphismAlleleBody mass indexAllele frequencyFood ScienceNutrients
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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…

AdultCyclin-Dependent Kinase Inhibitor p21MaleGenotypeHealth Toxicology and MutagenesisClinical BiochemistryBlack PeopleBiologyPolymorphism Single NucleotideBiochemistryWhite PeopleYoung AdultGene FrequencyRisk FactorsGenotypemedicineHumansGenetic Predisposition to DiseaseAlleleYoung adultSarcoma KaposiKaposi's sarcomaAllele frequencyAgedAged 80 and overProto-Oncogene Proteins c-mdm2Odds ratioMiddle Agedmedicine.diseaseConfidence intervalImmunologyCancer researchFemaleSarcomaTumor Suppressor Protein p53
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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.

AdultElectrophoresisMaleAdolescentGenotypePopulationPopulation geneticsBiologyPolymorphism (computer science)GeneticsHumansAlleleeducationAllele frequencyGenetics (clinical)AllelesGeneticseducation.field_of_studyPolymorphism GeneticMiddle AgedPhenotypeHuman geneticsGenotype frequencyPhenotypeFemaleTrypsin InhibitorsHumangenetik
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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.

AdultErythrocytesKoreaRed CellRed cell acid phosphatasePhosphataseAcid PhosphataseAcid phosphataseBiologyIsozymeMolecular medicineIsoenzymesGenetics PopulationBiochemistryGene FrequencyGeneticsbiology.proteinCholinesterasesHumansFemaleAlleleAllele frequencyGenetics (clinical)Humangenetik
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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…

AdultGenetic MarkersMaleAdolescentGenotypeChromosomes Human Pair 21Positional candidatePoison controlBiologyChromosome (genetic algorithm)Polymorphism (computer science)GenotypemedicineHumansPharmacology (medical)AlleleAssociation (psychology)Allele frequencyAllelesBiological PsychiatryATP Binding Cassette Transporter Subfamily G Member 1AgedPharmacologyGeneticsPolymorphism GeneticSuicide attemptMood DisordersDNAMiddle Agedmedicine.diseaseSuicidePsychiatry and Mental healthNeuropsychology and Physiological PsychologyMood disordersNeurologyGenetic markerSuicidal behaviorATP-Binding Cassette TransportersFemaleNeurology (clinical)PsychologyEuropean Neuropsychopharmacology
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The microcephaly ASPM gene and schizophrenia: A preliminary study

2006

AdultGeneticsMicrocephalyGenotypeSchizophrenia (object-oriented programming)HaplotypeGene ExpressionNerve Tissue ProteinsBiologymedicine.diseasePolymorphism Single NucleotideASPMPsychiatry and Mental healthGene FrequencyHaplotypesGenotypeGene expressionMicrocephalySchizophreniamedicineHumansPromoter Regions GeneticGeneAllele frequencyBiological PsychiatrySchizophrenia Research
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Genotype and allele frequencies of isoniazid-metabolizing enzymes NAT2 and GSTM1 in Latvian tuberculosis patients

2016

Pharmacogenomic testing of tuberculosis drug-metabolizing enzyme genes was proposed as a strategy to identify patients at risk for suboptimal responses to medications. However, variations of the genotype frequencies among ethnic groups exist and new alleles are been identified. The aim of this study was to identify polymorphisms of genes encoding metabolic enzymes NAT2 and GSTM1 in tuberculosis patients in Latvia and to estimate the frequency of NAT2 slow acetylator and GSTM1 null genotypes. In total, 85 DNA samples were genotyped, all individuals were Caucasian. An ethnic heterogeneity reflecting the multiethnic population of the country was observed. 49 patients were Latvians, 30 were Rus…

AdultMale0301 basic medicineMicrobiology (medical)TuberculosisGenotypeArylamine N-AcetyltransferaseAntitubercular AgentsBiologyYoung Adult03 medical and health sciencesGene FrequencyGenotypeIsoniazidmedicineHumansTuberculosisPharmacology (medical)AlleleGenotypingAllele frequencyAgedGlutathione TransferaseGeneticsPolymorphism GeneticIsoniazidMiddle Agedmedicine.diseaseLatviaGenotype frequency030104 developmental biologyInfectious DiseasesFemalePharmacogeneticsmedicine.drugJournal of Infection and Chemotherapy
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Association of CYP2R1 rs10766197 with MS risk and disease progression

2017

Background MS is a neurodegenerative autoimmune disease resulting from a complex interaction of genetic and environmental factors. Among these, vitamin D and genetic variants associated with vitamin D-metabolism gain great attention. The aim of our study was to assess five SNPs in NADSYN1 and CYP2R1 genes in relation to serum 25-OH-vitamin D3 levels in MS patients and controls. Methods 25-OH-vitamin D3 levels and genotyping of CYP2R1- and NADSYN1-SNPs were investigated both in MS patients and in healthy controls. Results The analysis revealed lower 25-OH-vitamin D3 concentrations in MS patients than in controls and an association of rs10766197 CYP2R1 SNP with MS risk. After stratifying MS p…

AdultMale0301 basic medicineOncologymedicine.medical_specialtyPathologyMultiple SclerosisGenotypeSingle-nucleotide polymorphismPolymorphism Single NucleotideSeverity of Illness IndexpolymorphismDisability Evaluation03 medical and health sciencesCellular and Molecular NeuroscienceSex Factors0302 clinical medicineInternal medicinegendermedicineVitamin D and neurologyHumansSNPGenetic Predisposition to DiseaseNADSYN1AlleleCytochrome P450 Family 2GenotypingRetrospective Studiesbusiness.industryMultiple sclerosisCase-control studyvitamin dMiddle Agedmedicine.diseaseMinor allele frequency030104 developmental biologyCase-Control Studiesmultiple sclerosiDisease ProgressionCYP2R1Cholestanetriol 26-MonooxygenaseFemaleCarbon-Nitrogen Ligases with Glutamine as Amide-N-Donorgeneticbusiness030217 neurology & neurosurgeryJournal of Neuroscience Research
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