ArticleProceedings of the National Academy of Sciences of the United States of America2003
Linkage disequilibrium in human populations.
Article in Proceedings of the National Academy of Sciences of the United States of America, 2003. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 35 papers, 1 of them a synthesis that pooled it.
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Who cites it
35 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Trans-ethnic meta-analysis of genome-wide association studies identifies maternal ITPR1 as a novel locus influencing fetal growth during sensitive periods in pregnancy.PLoS genetics · 2020Pooled it
- A reference panel for linkage disequilibrium and genotype imputation using whole-genome sequencing data from 2,680 participants across India.HGG advances · 2026Article
- Trustworthy causal biomarker discovery: a multiomics brain imaging genetics-based approach.Bioinformatics (Oxford, England) · 2025Article
- Inclusiveness of the All of Us Research Program improves polygenic risk scores and fosters genomic medicine for all.Communications medicine · 2024Article
- A powerful approach to identify replicable variants in genome-wide association studies.American journal of human genetics · 2024Article
- Fine-mapping across diverse ancestries drives the discovery of putative causal variants underlying human complex traits and diseases.medRxiv : the preprint server for health sciences · 2023Article
- Genetics of SLE: does this explain susceptibility and severity across racial groups?Rheumatology (Oxford, England) · 2023Review
- Assessing HLA imputation accuracy in a West African population.bioRxiv : the preprint server for biology · 2023Article
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- Deconstructing a Syndrome: Genomic Insights Into PCOS Causal Mechanisms and Classification.Endocrine reviews · 2022Article
- Genome-Wide Scan for Parent-of-Origin Effects in a sub-Saharan African Cohort With Nonsyndromic Cleft Lip and/or Cleft Palate (CL/P).The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association · 2022Article
- Frequency distribution of cytokine and associated transcription factor single nucleotide polymorphisms in Zimbabweans: Impact on schistosome infection and cytokine levels.PLoS neglected tropical diseases · 2022Article
- Genetic associations with carotid intima-media thickness link to atherosclerosis with sex-specific effects in sub-Saharan Africans.Nature communications · 2022Article
- Article
- A population-specific reference panel for improved genotype imputation in African Americans.Communications biology · 2021Article
- LDkit: a parallel computing toolkit for linkage disequilibrium analysis.BMC bioinformatics · 2020Article
- Estimating cross-population genetic correlations of causal effect sizes.Genetic epidemiology · 2019Article
- Genotypic and allelic variability in CYP19A1 among populations of African and European ancestry.PloS one · 2015Article
- Evidence for selection at HIV host susceptibility genes in a West Central African human population.BMC evolutionary biology · 2012Article
- Relationships of dietary patterns with body composition in older adults differ by gender and PPAR-γ Pro12Ala genotype.European journal of nutrition · 2010Article
Corrections and comments
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Authors and funding
7 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Whereas the human linkage map appears on limited evidence to be constant over populations, maps of linkage disequilibrium (LD) vary among populations that differ in gene history. The greatest difference is between populations of sub-Saharan origin and populations remotely derived from Africa after a major bottleneck that reduced their heterozygosity and altered their Malecot parameters, increasing the intercept M that reflects association in founders and decreasing the exponential decline epsilon. Variation among populations within this ethnic dichotomy is much smaller. These observations validate use of a cosmopolitan LD map based on a sizeable sample representing a large population reliably typed for markers at high density. Then an LD map for a region or isolate within an ethnic group may be created by fitting the sample LD to the cosmopolitan map, estimating Malecot parameters simultaneously. The cosmopolitan map scaled by epsilon recovers 95% of the information that a local map at the same density gives and therefore more than the information in a low-resolution local map. Relative to a Eurasian cosmopolitan map the scaling factors are estimated to be 0.82 for isolates of European descent, 1.53 for Yorubans, and 1.74 for African Americans. These observations are consistent with a common bottleneck (perhaps but not necessarily speciation) approximately 173,500 years ago, if the bottleneck associated with migration out of Africa was 100,000 years ago. Eurasian populations (especially isolates with numerous cases) are efficient for genome scans, and populations of recent African origin (such as African Americans) are efficient for identification of causal polymorphisms within a candidate sequence.
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