0000000001134591

AUTHOR

S. Nickels

showing 3 related works from this author

Large-scale genotyping identifies 41 new loci associated with breast cancer risk

2013

Journal article Breast cancer is the most common cancer among women. Common variants at 27 loci have been identified as associated with susceptibility to breast cancer, and these account for ~9% of the familial risk of the disease. We report here a meta-analysis of 9 genome-wide association studies, including 10,052 breast cancer cases and 12,575 controls of European ancestry, from which we selected 29,807 SNPs for further genotyping. These SNPs were genotyped in 45,290 cases and 41,880 controls of European ancestry from 41 studies in the Breast Cancer Association Consortium (BCAC). The SNPs were genotyped as part of a collaborative genotyping experiment involving four consortia (Collaborat…

signaling pathwayGenotypingGenotypeSingle-nucleotide polymorphismGenome-wide association studyBreast NeoplasmsconsortiumBiologyBreast Neoplasms; Case-Control Studies; Cooperative Behavior; Female; Gene-Environment Interaction; Genetic Loci; Genome-Wide Association Study; Genotype; Humans; Meta-Analysis as Topic; Polymorphism Single Nucleotide; Risk Factors; Genetic Predisposition to Disease; GeneticsPolymorphism Single NucleotideArticle03 medical and health sciences0302 clinical medicineBreast cancerSDG 3 - Good Health and Well-beingMeta-Analysis as TopicRisk FactorsGenotypecommon variantsexpressionGeneticsmedicineHumansGenetic Predisposition to DiseasePolymorphismCooperative BehaviorgeneGenotypinghormone-related protein030304 developmental biologyGenetic associationGenetics0303 health sciencesBreast cancer susceptibilityCancerSingle Nucleotidemedicine.diseaseconfer susceptibilitysusceptibility loci3. Good health14q24.1 rad51l1TOX3Genetic Loci030220 oncology & carcinogenesisCase-Control Studiesgenome-wide associationFemaleGene-Environment InteractionGenome-Wide Association Study
researchProduct

Genome-wide association meta-analysis of corneal curvature identifies novel loci and shared genetic influences across axial length and refractive err…

2020

Corneal curvature, a highly heritable trait, is a key clinical endophenotype for myopia - a major cause of visual impairment and blindness in the world. Here we present a trans-ethnic meta-analysis of corneal curvature GWAS in 44,042 individuals of Caucasian and Asian with replication in 88,218 UK Biobank data. We identified 47 loci (of which 26 are novel), with population-specific signals as well as shared signals across ethnicities. Some identified variants showed precise scaling in corneal curvature and eye elongation (i.e. axial length) to maintain eyes in emmetropia (i.e. HDAC11/FBLN2 rs2630445, RBP3 rs11204213); others exhibited association with myopia with little pleiotropic effects …

0301 basic medicinegenetic structuresMedicine (miscellaneous)EmmetropiaGenome-wide association studyVARIANTSGenome-wide association studiesSensory disorders Donders Center for Medical Neuroscience [Radboudumc 12]Cornea0302 clinical medicineRisk FactorsCorneaDatabases GeneticMULTIPLEMyopiaGene Regulatory NetworksEXPRESSION PATTERNS10. No inequalitylcsh:QH301-705.5POPULATIONGeneticseducation.field_of_studymedicine.diagnostic_testHERITABILITYCorneal DiseasesAsian Continental Ancestry Group ; Axial Length Eye ; Cornea ; Corneal Topography ; Databases Genetic ; European Continental Ancestry Group ; Gene Regulatory Networks ; Genetic Loci ; Genetic Predisposition to Disease ; Genome-Wide Association Study ; Humans ; Myopia ; Phenotype ; Polymorphism Single Nucleotide ; Refractometry ; Risk Assessment ; Risk FactorsCorneal topographyEYE SIZE3. Good healthAxial Length EyePhenotypemedicine.anatomical_structureGeneral Agricultural and Biological SciencesExtracellular matrix organizationKeratoconusCorneal diseasesPopulationBiologyPolymorphism Single NucleotideRisk AssessmentArticleWhite PeopleGeneral Biochemistry Genetics and Molecular BiologyOCULAR COMPONENT DIMENSIONS03 medical and health sciencesSPHERICAL EQUIVALENTAsian PeoplemedicineHumansGenetic Predisposition to DiseaseKERATOCONUS3125 Otorhinolaryngology ophthalmologyeducationCorneal Topographymedicine.diseaseCOLLAGENeye diseasesRefractometry030104 developmental biologylcsh:Biology (General)Genetic LociRE3111 Biomedicinesense organs030217 neurology & neurosurgeryGenome-Wide Association StudyCommunications Biology
researchProduct

Supplementary Material for: Incidence of Retinal Detachment in Germany: Results from the Gutenberg Health Study

2021

Purpose: To investigate the incidence of retinal detachment in the German population and to assess potential risk factors. Methods: The Gutenberg Health Study is a population-based cohort study in Mainz, Germany, including subjects (n = 15,010) with an age range from 35 to 74 years at baseline examination. Study participants underwent a comprehensive ophthalmological examination including distant-corrected visual acuity, refraction and slit-lamp examination at baseline examination. A computer-assisted telephone interview was conducted after 2.5 and 5 years, and health events were recorded. The 5-year cumulative incidence of retinal detachment was computed for the study sample and stratified…

eye diseases
researchProduct