Search results for "polymorph"

showing 10 items of 2115 documents

Large-scale association analysis identifies new risk loci for coronary artery disease

2016

Coronary artery disease (CAD) is the commonest cause of death. Here, we report an association analysis in 63,746 CAD cases and 130,681 controls identifying 15 loci reaching genome-wide significance, taking the number of susceptibility loci for CAD to 46, and a further 104 independent variants (r 2 < 0.2) strongly associated with CAD at a 5% false discovery rate (FDR). Together, these variants explain approximately 10.6% of CAD heritability. Of the 46 genome-wide significant lead SNPs, 12 show a significant association with a lipid trait, and 5 show a significant association with blood pressure, but none is significantly associated with diabetes. Network analysis with 233 candidate genes …

AdultAsian Continental Ancestry GroupMaleCandidate geneBIO/12 - BIOCHIMICA CLINICA E BIOLOGIA MOLECOLARE CLINICAPopulationEuropean Continental Ancestry GroupQuantitative Trait LociCADGenome-wide association studySingle-nucleotide polymorphismCoronary Artery Disease030204 cardiovascular system & hematologyBiologyQuantitative trait locusBioinformaticsPolymorphism Single NucleotideArticleWhite Peoplecoronary artery disease risk lociCell LineCoronary artery disease03 medical and health sciences0302 clinical medicineAsian PeopleRisk FactorsmedicineHumansgeneticsGene Regulatory NetworksGenetic Predisposition to Diseasecardiovascular diseasesPolymorphismeducation030304 developmental biologyGenetic associationAgedGenetics0303 health scienceseducation.field_of_studyAdult Aged Asian Continental Ancestry Group Cell Line Coronary Artery Disease; genetics European Continental Ancestry Group; genetics Female Gene Regulatory Networks Genetic Predisposition to Disease Genome-Wide Association Study Humans Male Middle Aged Polymorphism; Single Nucleotide Quantitative Trait Loci Risk FactorsSingle NucleotideMiddle Agedmedicine.disease3. Good healthFemaleGenome-Wide Association StudyNature Genetics
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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 …

AdultBlood GlucoseMaleLinkage disequilibriummedicine.medical_specialtyGenotypeEndocrinology Diabetes and MetabolismMutation Missense030209 endocrinology & metabolismLocus (genetics)Single-nucleotide polymorphismBiologyQuantitative trait locusPolymorphism Single Nucleotide03 medical and health sciences0302 clinical medicineGene FrequencyInternal medicineInternal MedicinemedicineGeneticsGlucose homeostasisHumansTriglycerides030304 developmental biologyGenetic associationAdaptor Proteins Signal TransducingAgedGenetics0303 health sciencesAnalysis of VarianceGlucokinase regulatory proteinGlucokinaseFastingMiddle AgedEndocrinologyC-Reactive Proteinbiology.proteinFemaleDiabetes
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Differential effects of the C1431T and Pro12Ala PPARgamma gene variants on plasma lipids and diabetes risk in an Asian population.

2004

We investigated the association of C1431T and Pro12Ala polymorphisms at the peroxisome proliferator-activated receptor γ (PPARγ) locus with plasma lipids and insulin resistance-related variables, according to diabetes status, in a large and representative Asian population from Singapore consisting of 2,730 Chinese, 740 Malays, and 568 Indians. Moreover, we estimated the diabetes risk and examined gene-nutrient interactions between these variants and the ratio of polyunsaturated fatty acid to saturated fat (SFA) in determining body mass index (BMI) and fasting insulin. We found differential effects of these gene variants. The Pro12Ala polymorphism was more associated with plasma lipids and f…

AdultBlood GlucoseMalemedicine.medical_specialtyDiabetes riskAsiaSaturated fatmedicine.medical_treatmentMutation MissensePeroxisome proliferator-activated receptorLocus (genetics)QD415-436BiologyBiochemistryPolymorphism Single NucleotidepolymorphismBody Mass IndexEndocrinologyRisk FactorsfatDiabetes mellitusInternal medicinemedicineDiabetes MellitusHumansInsulinAllelechemistry.chemical_classificationperoxisome proliferator-activated receptorInsulinFatty AcidsCell BiologyMiddle Agedmedicine.diseaseLipidsPPAR gammaEndocrinologychemistryFatty Acids UnsaturatedFemaleInsulin ResistancedietBody mass indexJournal of lipid research
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Polymorphisms of the angiotensinogen gene and the outcome of microalbuminuria in essential hypertension: a 3-year follow-up study.

2003

Background: The objective of this study was to analyse the relationship of polymorphisms of the angiotensinogen (AGT) gene with the changes in microalbuminuria during 3 years of antihypertensive treatment in a group of young adults with essential hypertension. Methods: Essential hypertensives, less than 50 years old, never previously treated with antihypertensive drugs and in the absence of diabetes mellitus were included. After the initial evaluation, patients were treated using only nonpharmacological measures (n=23), only β-blockers (n=26), only angiotensin-converting enzyme inhibitors (ACEi) (n=57) or a combination of treatments (n=25). The office blood pressure, biochemical profile and…

AdultBlood GlucoseMalemedicine.medical_specialtyTime FactorsGenotypeAdrenergic beta-AntagonistsAngiotensinogenAngiotensin-Converting Enzyme InhibitorsBlood PressureEssential hypertensionExcretionDiabetes mellitusInternal medicineInternal MedicinemedicineAlbuminuriaHumansAntihypertensive AgentsProteinuriaPolymorphism Geneticbusiness.industrymedicine.diseaseEndocrinologyBlood pressureTreatment OutcomeACE inhibitorHypertensionMicroalbuminuriaFemaleGene polymorphismmedicine.symptombusinessmedicine.drugFollow-Up StudiesJournal of human hypertension
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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…

AdultBlood PlateletsMaleVenous ThrombosisPolymorphism GeneticAdolescentGenotypeBehcet SyndromeIntegrin beta3Factor VPLA1/2 polymorphism Behcet's diseaseYoung AdultHuman PlateletGene FrequencyGeneticHumansAntigens Human PlateletFemaleProthrombinAdolescent; Adult; Antigens Human Platelet; Blood Platelets; Factor V; Female; Gene Frequency; Genotype; Humans; Integrin beta3; Male; Polymorphism Genetic; Prothrombin; Young Adult; Behcet Syndrome; Venous ThrombosisAntigensPolymorphism
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Orosensory detection of bitter in fat-taster healthy and obese participants: Genetic polymorphism of CD36 and TAS2R38

2017

In Press, Corrected Proof — Note to users; International audience; Background & aimsWe assessed orosensory detection of a long-chain fatty acid, linoleic acid (LA), and a bitter taste marker, 6-n-propylthiouracil (PROP), and correlated lipid-taster subjects with PROP detection and polymorphism in genes encoding bitter and lipid taste receptors, respectively, TAS2R38 and CD36, in normal weight and obese subjects.DesignThe normal weight (n = 52, age = 35.3 ± 4.10 years, BMI = 23.22 ± 1.44 kg/m2) and obese (n = 52, age = 35.0 ± 5.43 years, BMI = 34.29 ± 5.31 kg/m2) participants were recruited to determine fat and bitter detection thresholds. The genomic DNA was used to determine single nucleot…

AdultCD36 AntigensMale0301 basic medicinemedicine.medical_specialtyTaste[ SDV.AEN ] Life Sciences [q-bio]/Food and NutritionSingle-nucleotide polymorphismCritical Care and Intensive Care MedicinePolymorphism Single NucleotideReceptors G-Protein-Coupled03 medical and health sciencesstomatognathic systemPolymorphism (computer science)Taste receptorInternal medicineHumansSNPMedicineObesityGenetic polymorphism030109 nutrition & dieteticsNutrition and Dieteticsbusiness.industryBody WeightBitter tastemedicine.diseaseObesityTAS2R38EndocrinologyPropylthiouracilCase-Control StudiesTastebusiness[SDV.AEN]Life Sciences [q-bio]/Food and NutritionFat tasteBody mass indexClinical Nutrition
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Lack of association of cd36 snps with early onset obesity : A meta-analysis in 9,973 european subjects

2011

A recent study suggested that four CD36 polymorphisms (namely rs3211867, rs3211883, rs3211908, and rs1527483) were associated with an increased risk of obesity, an increased BMI and percentage of body fat in European adolescents. We first attempted to confirm these results in three independent case-control genome-wide association studies (GWAS) data totaling 3,509 subjects of French and German origin, but we were unable to find any association of these variants with early onset obesity risk. We then genotyped the four CD36 single-nucleotide polymorphisms (SNPs) in a large population-based study of 4,667 Finnish subjects and we did not replicate any of the recently reported associations with…

AdultCD36 AntigensMalemedicine.medical_specialtyAdolescentGenotypeEndocrinology Diabetes and MetabolismCD36MedizinMedicine (miscellaneous)Single-nucleotide polymorphismGenome-wide association studyLocus (genetics)Polymorphism Single NucleotideWhite PeopleBody Mass IndexYoung AdultEndocrinologyInternal medicineGermanymedicineHumansGenetic Predisposition to DiseaseObesityChildAllelesFinlandGenetic associationGeneticsNutrition and Dieteticsbiologybusiness.industryGenetic VariationMiddle Agedmedicine.diseaseObesityAdipose TissueGenetic LociMeta-analysisCase-Control StudiesMultiple comparisons problembiology.proteinFemaleFrancebusinessGenome-Wide Association Study
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The A allele of cluster of differentiation 36 (CD36) SNP 1761667 associates with decreased lipid taste perception in obese Tunisian women.

2015

Recent studies have suggested that excessive intake of dietary fat is associated with obesity. Some obese subjects have been reported to exhibit high thresholds for the gustatory detection of lipids via lipid receptors, such as cluster of differentiation 36 (CD36). We studied lingual detection thresholds for emulsions containing oleic acid in obese Tunisian women (n203) using a three-alternative forced choice (3-AFC) method. Genotyping of theTNF-α(rs1800629),IL-6(rs1800795) andCD36(rs1761667) genes was performed to associate with lipid taste perception thresholds. TheCD36genotype distribution was as follows: GG (n42), AG (n102) and AA (n59). Women with theCD36GG genotype exhibited oral dete…

AdultCD36 AntigensTastemedicine.medical_specialtyTunisiaGenotypeCD36Medicine (miscellaneous)Administration OralBiologyPolymorphism Single Nucleotidechemistry.chemical_compoundFood PreferencesInternal medicineGenotypemedicineSNPCluster AnalysisHumansObesityAllele10. No inequalityGenotypingAllelesGeneticsNutrition and DieteticsInterleukin-6Tumor Necrosis Factor-alphaTaste PerceptionMiddle Agedmedicine.diseaseTaste BudsObesityDietary FatsOleic acidEndocrinologychemistryTastebiology.proteinFemaleOleic AcidThe British journal of nutrition
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MMP-7 promoter polymorphisms do not influence CD4+ recovery and changes in plasma viral load during antiretroviral therapy for HIV-1 infection.

2005

Summary Matrix metalloproteinase-7 (MMP-7) generates soluble Fas Ligand (FasL), which is involved in the apoptotic loss of CD4+ T cells during HIV infection. We evaluated whether two polymorphisms in MMP-7 promoter could influence CD4+ recover in response to antiretroviral therapy, and found that these polymorphisms are ineffective.

AdultCD4-Positive T-LymphocytesMaleImmunologyHuman immunodeficiency virus (HIV)HIV InfectionsMatrix metalloproteinasemedicine.disease_causeMMP-7; Fas ligand; CD4T cells; HIV infectionFas ligandPlasma viral loadGeneticsHumansMedicineMolecular BiologyGenetics (clinical)Polymorphism Geneticbusiness.industryMetalloendopeptidasesGeneral MedicineMiddle AgedViral LoadAntiretroviral therapySoluble fas ligandCD4 Lymphocyte CountAnti-Retroviral AgentsApoptosisMatrix Metalloproteinase 7ImmunologyHIV-1business
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Looking for Immunological Risk Genotypes

2004

Several functional markers of the immune system may be used either as markers of successful aging or conversely as markers of unsuccessful aging. Particularly, a combination of high CD8 and low CD4 and poor T cell proliferation has been associated with a higher two-year mortality in very old subjects. Therefore, genetic determinants of longevity should reside in those polymorphisms for the immune system genes that regulate immune responses. Concerning these changes in T cell subpopulations, how much they depend on the immunogenetic background and how much they depend on individual antigenic load, such as chronic infections, should be assessed. As previously demonstrated in our population, t…

AdultCD4-Positive T-LymphocytesMaleRiskGenotypeT-LymphocytesT cellPopulationCD8-Positive T-LymphocytesBiologyGeneral Biochemistry Genetics and Molecular BiologyImmune systemHistory and Philosophy of ScienceAntigenGenotypemedicineHumanseducationAgedAged 80 and overeducation.field_of_studyPolymorphism GeneticSuccessful agingGeneral NeuroscienceMiddle AgedInterleukin-10Interleukin 10medicine.anatomical_structureImmune System DiseasesImmune SystemImmunologyInterleukin-2FemaleCell DivisionCD8Annals of the New York Academy of Sciences
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