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Whole-Genome Patterns Of Common DNA Variation In Three Human Populations
D. Hinds, L. Stuve, Geoffrey B. Nilsen, E. Halperin, E. Eskin, D. Ballinger, K. Frazer, D. R. Cox
Published 2005 · Biology, Medicine
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Individual differences in DNA sequence are the genetic basis of human variability. We have characterized whole-genome patterns of common human DNA variation by genotyping 1,586,383 single-nucleotide polymorphisms (SNPs) in 71 Americans of European, African, and Asian ancestry. Our results indicate that these SNPs capture most common genetic variation as a result of linkage disequilibrium, the correlation among common SNP alleles. We observe a strong correlation between extended regions of linkage disequilibrium and functional genomic elements. Our data provide a tool for exploring many questions that remain regarding the causal role of common human DNA variation in complex human traits and for investigating the nature of genetic variation within and between human populations.
This paper references
Association of NOD2 leucine-rich repeat variants with susceptibility to Crohn's disease
J. Hugot (2001)
A model for susceptibility polymorphisms for complex diseases: apolipoprotein E and Alzheimer disease
A. Roses (1997)
Ericka Stricklin-Parker (2005)
Distinctive distribution of AIM1 polymorphism among major human populations with different skin color
K. Nakayama (2002)
Detection of genotyping errors by Hardy–Weinberg equilibrium testing
L. Hosking (2004)
The common PPARγ Pro12Ala polymorphism is associated with decreased risk of type 2 diabetes
D. Altshuler (2000)
Searching for genetic determinants in the new millennium
N. Risch (2000)
A comparison of linkage disequilibrium measures for fine-scale mapping.
B. Devlin (1995)
Haplotype reconstruction from genotype data using Imperfect Phylogeny
E. Halperin (2004)
The Structure of Haplotype Blocks in the Human Genome
S. B. Gabriel (2002)
Methods for high-density admixture mapping of disease genes.
Nick Patterson (2004)
Evidence for gradients of human genetic diversity within and among continents.
David Serre (2004)
Genetic Structure of Human Populations
N. Rosenberg (2002)
Yee; computer systems and operations
B. Margus (2005)
Linkage disequilibrium in humans: models and data.
J. Pritchard (2001)
A map of human genome sequence variation containing 1.42 million single nucleotide polymorphisms
R. Sachidanandam (2001)
Estimating African American admixture proportions by use of population-specific alleles.
E. J. Parra (1998)
A first-generation linkage disequilibrium map of human chromosome 22
E. Dawson (2002)
The mutation in the mitochondrial aldehyde dehydrogenase (ALDH2) gene responsible for alcohol-induced flushing increases turnover of the enzyme tetramers in a dominant fashion.
Q. Xiao (1996)
Drift, admixture, and selection in human evolution: a study with DNA polymorphisms.
A. Bowcock (1991)
Blocks of Limited Haplotype Diversity Revealed by High-Resolution Scanning of Human Chromosome 21
N. Patil (2001)
A scan for linkage disequilibrium across the human genome.
G. Huttley (1999)
The relative power of SNPs and haplotype as genetic markers for association tests.
J. Bader (2001)
Genetic influence of CXCR6 chemokine receptor alleles on PCP-mediated AIDS progression among African Americans
P. Duggal (2003)
The generic genome browser: a building block for a model organism system database.
L. Stein (2002)
Amyloid, Presenilins, and Alzheimer’s Disease
G. V. Gassen (2003)
Matching strategies for genetic association studies in structured populations.
D. Hinds (2004)
Hormones and the Stressed Brain
E. R. Kloet (2004)
Selecting a maximally informative set of single-nucleotide polymorphisms for association analyses using linkage disequilibrium.
C. Carlson (2004)
An Apolipoprotein Influencing Triglycerides in Humans and Mice Revealed by Comparative Sequencing
L. Pennacchio (2001)
Variation is the spice of life
L. Kruglyak (2001)
Interrogating a high-density SNP map for signatures of natural selection.
J. Akey (2002)
Detecting recent positive selection in the human genome from haplotype structure
Pardis C Sabeti (2002)
ESTIMATING F‐STATISTICS FOR THE ANALYSIS OF POPULATION STRUCTURE
B. Weir (1984)
Patterns of human diversity, within and among continents, inferred from biallelic DNA polymorphisms.
C. Romualdi (2002)
The structure of the tau haplotype in controls and in progressive supranuclear palsy.
A. Pittman (2004)
Additional SNPs and linkage-disequilibrium analyses are necessary for whole-genome association studies in humans
C. Carlson (2003)
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Genetically indistinguishable SNPs and their influence on inferring the location of disease-associated variants.
R. Lawrence (2005)
Haplotype-dependent binding of nuclear proteins to the promoter of the neural tube defects-associated platelet-derived growth factor alpha-receptor gene.
Mascha Toepoel (2005)
Finding genes in child psychology and psychiatry: when are we going to be there?
R. Plomin (2005)
Evidence suggesting that Homo neanderthalensis contributed the H2 MAPT haplotype to Homo sapiens.
J. Hardy (2005)
Fine-scale recombination patterns differ between chimpanzees and humans
S. Ptak (2005)
Recombination and linkage disequilibrium in Arabidopsis thaliana
S. Kim (2007)
Importance of Race/Ethnicity in Clinical Trials Lessons From the African-American Heart Failure Trial (A-HeFT), the African-American Study of Kidney Disease and Hypertension (AASK), and the Antihypertensive and Lipid-Lowering Treatment to Prevent Heart Attack Trial (ALLHAT)
A. Taylor (2005)
Recurrent Predictive Models for Sequence Segmentation
S. Hyvönen (2007)
CENTRO UNIVERSITÁRIO DE BRASÍLIA - UNICEUB FACULDADE DE CIÊNCIAS DA EDUCAÇÃO E SAÚDE - FACES GRADUAÇÃO EM BIOMEDICINA
M. A. Queiroz (2013)
Large-Scale Genotyping for Analysis of the Type I Interferon System in Autoimmune Diseases
S. Sigurdsson (2006)
Human Recombination Hotspots: Before and After the HapMap Project
C. A. May (2007)
Genetic Variation Is Associated With C-Reactive Protein Levels in the Third National Health and Nutrition Examination Survey
D. Crawford (2006)
How lifetimes shape epigenotype within and across generations.
Nadia C. Whitelaw (2006)
Natural selection has driven population differentiation in modern humans
L. Barreiro (2008)
On Detecting Selective Sweeps Using Single Genomes
Priyanka Sinha (2011)
Genomic signatures of selection at linked sites: unifying the disparity among species
A. Cutter (2013)
Genetic evidence for ongoing balanced selection at human DNA repair genes ERCC8, FANCC, and RAD51C.
E. Wang (2007)
Survey of polymorphic sequence variation in the immediate 5' region of human DNA repair genes.
H. Mohrenweiser (2007)
Transferability of Tag SNPs to Capture Common Genetic Variation in DNA Repair Genes Across Multiple Populations
P. Bakker (2006)
human Y chromosomal haplogroup tree New binary polymorphisms reshape and increase resolution of the Material Supplemental
T. Karafet (2008)
Surveillance of genetic drift in Influenza A virus with base-specific cleavage and MALDI-TOF mass spectrometry
Xiang Gao (2013)
Comparative Assessment of the Association Information Captured by SNP Tagging
M. Nothnagel (2007)
Novel genes identified in a high-density genome wide association study for nicotine dependence.
L. Bierut (2007)
Algorithms for analyzing intraspecific sequence variation
G. Blelloch (2007)
Genome-wide copy number variations in Oryza sativa L.
P. Yu (2013)
Whole-genome microarrays: applications and technical issues.
B. Gregory (2009)
Powerful multi-locus tests for genetic association in the presence of gene-gene and gene-environment interactions
N. Chatterjee (2006)
Molecular genetic analysis of paediatric low-grade astrocytoma
R. Tatevossian (2010)
Efficient Association Study Design Via Power‐Optimized Tag SNP Selection
B. Han (2008)
VARIAÇÕES RARAS NO GENOMA DE PACIENTES
C. Cappi (2013)
Genetic polymorphisms in AURKA and BRCA1 are associated with breast cancer susceptibility in a Chinese Han population
Yuan Ruan (2011)
Investigating the genetic basis of cranial cruciate ligament rupture in the Newfoundland dog
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