2013
Genome‐Wide Association Study of Pre‐Eclampsia Detects Novel Maternal Single Nucleotide Polymorphisms and Copy‐Number Variants in Subsets of the Hyperglycemia and Adverse Pregnancy Outcome (HAPO) Study Cohort
Zhao L, Bracken MB, DeWan AT. Genome‐Wide Association Study of Pre‐Eclampsia Detects Novel Maternal Single Nucleotide Polymorphisms and Copy‐Number Variants in Subsets of the Hyperglycemia and Adverse Pregnancy Outcome (HAPO) Study Cohort. Annals Of Human Genetics 2013, 77: 277-287. PMID: 23551011, PMCID: PMC3740040, DOI: 10.1111/ahg.12021.Peer-Reviewed Original ResearchConceptsCopy number variantsSingle nucleotide polymorphismsAssociation studiesGenome-wide SNP dataMaternal single nucleotide polymorphismsGenome-wide association studiesTop single nucleotide polymorphismsNucleotide polymorphismsWide association studyEuropean ancestry subjectsCandidate genetic variantsSNP dataBeadChip microarrayGenetic variantsCase-control datasetEuropean ancestryCandidate copy-number variantsIllumina Human610-QuadCNV findingsPolymorphismVariants
2005
Complement Factor H Polymorphism in Age-Related Macular Degeneration
Klein RJ, Zeiss C, Chew EY, Tsai JY, Sackler RS, Haynes C, Henning AK, SanGiovanni JP, Mane SM, Mayne ST, Bracken MB, Ferris FL, Ott J, Barnstable C, Hoh J. Complement Factor H Polymorphism in Age-Related Macular Degeneration. Science 2005, 308: 385-389. PMID: 15761122, PMCID: PMC1512523, DOI: 10.1126/science.1109557.Peer-Reviewed Original ResearchMeSH KeywordsAgedAged, 80 and overAgingAllelesAmino Acid SubstitutionCase-Control StudiesChoroidChromosomes, Human, Pair 1Complement Factor HComplement Membrane Attack ComplexExonsFemaleGenetic MarkersGenetic Predisposition to DiseaseGenotypeHaplotypesHistidineHumansImmunity, InnateIntronsLinkage DisequilibriumMacular DegenerationMaleOligonucleotide Array Sequence AnalysisPigment Epithelium of EyePolymorphism, GeneticPolymorphism, Single NucleotideRisk FactorsSmokingConceptsAge-related macular degenerationComplement factor H (CFH) geneMacular degenerationLikelihood of AMDComplement Factor H PolymorphismRisk allelesC-reactive proteinFactor H geneAmino acids 402H polymorphismCFH geneFamily-based studyMajor causeSingle nucleotide polymorphismsCommon variantsDegenerationPolymorphismH gene