0000000000843145

AUTHOR

Dorothea Nitsch

0000-0001-5767-248x

showing 3 related works from this author

Genetic variants in a sodium-dependent vitamin C transporter gene and age-related cataract

2018

BACKGROUND: Cataract is a major health burden in many countries and a significant problem in India. While observational studies show lower cataract risk with increasing dietary or plasma vitamin C, randomised controlled trials of supplements have been negative. Genetic variants in vitamin C transporter proteins (SLC23A1), especially rs33972313, may provide evidence on a causal association of vitamin C with cataract. METHODS: We used data from a randomly selected population-based study in people aged 60 years and above in north and south India. Of 7518 sampled, 5428 (72%) were interviewed for socioeconomic and lifestyle factors, attended hospital for lens imaging and blood collection and wer…

Malegenetic structuresGenotypeIndiaClinical ScienceascorbateMiddle Agedeye diseasesCataractlens and zonulesSocioeconomic FactorsRisk FactorsHumansepidemiologygeneticsFemalesense organs15061507Life StyleSodium-Coupled Vitamin C TransportersAgedThe British Journal of Ophthalmology
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EPHA2 polymorphisms and age-related cataract in India.

2012

Objective: We investigated whether previously reported single nucleotide polymorphisms (SNPs) of EPHA2 in European studies are associated with cataract in India. Methods: We carried out a population-based genetic association study. We enumerated randomly sampled villages in two areas of north and south India to identify people aged 40 and over. Participants attended a clinical examination including lens photography and provided a blood sample for genotyping. Lens images were graded by the Lens Opacification Classification System (LOCS III). Cataract was defined as a LOCS III grade of nuclear >= 4, cortical >= 3, posterior sub-capsular (PSC) >= 2, or dense opacities or aphakia/pseudophakia i…

MaleAnatomy and Physiologygenetic structuresEpidemiologymedicine.medical_treatmentlcsh:Medicine0302 clinical medicinePrevalencelcsh:ScienceGenetics0303 health scienceseducation.field_of_studyMultidisciplinaryReceptor EphA2Age FactorsMiddle Aged3. Good healthPhenotypeMedicineFemaleAge-related cataractResearch ArticleAdultmedicine.medical_specialtyGenotypePopulationIndiaSingle-nucleotide polymorphismPolymorphism Single NucleotideCataractWhite People03 medical and health sciencesCataractsOcular SystemOphthalmologyGeneticsmedicineHumansGenetic Predisposition to DiseaseeducationBiologyAged030304 developmental biologyPopulation Biologybusiness.industrylcsh:RHuman GeneticsOdds ratioCataract surgerymedicine.diseaseeye diseasesGenotype frequencyMinor allele frequencyOphthalmology030221 ophthalmology & optometrylcsh:QPhysiological ProcessesbusinessPopulation Genetics
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New loci associated with kidney function and chronic kidney disease

2010

Chronic kidney disease (CKD) is a significant public health problem, and recent genetic studies have identified common CKD susceptibility variants. The CKDGen consortium performed a meta-analysis of genome-wide association data in 67,093 individuals of European ancestry from 20 predominantly population-based studies in order to identify new susceptibility loci for reduced renal function as estimated by serum creatinine (eGFRcrea), serum cystatin c (eGFRcys) and CKD (eGFRcrea 60 ml/min/1.73 m 2; n = 5,807 individuals with CKD (cases)). Follow-up of the 23 new genome-wide-significant loci (P 5 × 10 8) in 22,982 replication samples identified 13 new loci affecting renal function and CKD (in or…

medicine.medical_specialtyGENOME-WIDE ASSOCIATION ; SERUM CREATININE ; PROTEIN ; GENE ; MUTATIONS ; VARIANTS ; POPULATION ; CANDIDATE ; HOMOLOG ; MEGALINPopulationRenal functionGenome-wide association studyBiologyKidneyurologic and male genital diseasesCohort Studieschemistry.chemical_compoundSDG 3 - Good Health and Well-beingRisk FactorsInternal medicineGenetic MarkermedicineGeneticsHumansCystatin CeducationCystatin C/geneticsddc:616Genetic Markers/geneticsCreatinineKidneyeducation.field_of_studyModels GeneticRisk Factorchronic kidney disease; loci; SNPCreatinine/bloodmedicine.diseaseDietEuropeKidney/*physiologyEndocrinologymedicine.anatomical_structurechemistryCystatin CRenal physiologyCreatininebiology.proteinKidney Failure ChronicKidney Failure Chronic/ethnology/*geneticsCohort StudieKidney diseaseHumanGenome-Wide Association StudyGlomerular Filtration Rate
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