ArticleAmerican journal of human genetics2000
Linkage disequilibrium and allele-frequency distributions for 114 single-nucleotide polymorphisms in five populations.
Article in American journal of human genetics, 2000. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 75 papers, 3 of them syntheses that pooled it.
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Who cites it
75 citing papers in PubMed, 3 syntheses or guidelines pooled it.
- Association between SIRT1 gene polymorphisms and susceptibility to coronary artery disease: a systematic review and meta-analysis.Frontiers in cardiovascular medicine · 2026Pooled it
- A systematic review and meta-analysis on the association between CD36 rs1761667 polymorphism and cardiometabolic risk factors in adults.Scientific reports · 2022Pooled it
- The rs9340799 polymorphism of the estrogen receptor alpha (ESR1) gene and its association with breast cancer susceptibility.Scientific reports · 2021Pooled it
- Exploring imputation performance of phenotype-associated SNPs for forensic prediction models.Scientific reports · 2026Article
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- Identification and Pathway Analysis of SNP Loci Affecting Abdominal Fat Deposition in Broilers.Animals : an open access journal from MDPI · 2025Article
- Cathepsin H increases the risk of diabetic retinopathy: evidence from Mendelian randomization and bioinformatic analysis.Diabetology & metabolic syndrome · 2025Article
- Association of Glycoprotein IIIa PlA1/A2 Polymorphism with Risk of Stroke: Updated Meta-Analysis.Current issues in molecular biology · 2024Article
- Sample Size Calculation in Genetic Association Studies: A Practical Approach.Life (Basel, Switzerland) · 2023Review
- Challenges and Opportunities in Understanding Genetics of Fungal Diseases: Towards a Functional Genomics Approach.Infection and immunity · 2021Review
- Effects of Different Strategies for Exploiting Genomic Selection in Perennial Ryegrass Breeding Programs.G3 (Bethesda, Md.) · 2020Article
- The Association Between Schizophrenia Risk Variants and Creativity in Healthy Han Chinese Subjects.Frontiers in psychology · 2019Article
- Interleukin-1 Receptor Antagonist Is Associated With Pediatric Acute Respiratory Distress Syndrome and Worse Outcomes in Children With Acute Respiratory Failure.Pediatric critical care medicine : a journal of the Society of Critical Care Medicine and the World Federation of Pediatric Intensive and Critical Care Societies · 2018Article
- A new haplotype block detection method for dense genome sequencing data based on interval graph modeling of clusters of highly correlated SNPs.Bioinformatics (Oxford, England) · 2018Article
- Genetic polymorphisms of the drug-metabolizing enzyme cytochrome P450 2A6 in a Tibetan Chinese population.International journal of clinical and experimental pathology · 2018Article
- Population Stratification in Genetic Association Studies.Current protocols in human genetics · 2017Review
- Association Analysis of Arsenic-Induced Straighthead in Rice (BioMed research international · 2017Article
- Association of polymorphisms in genes of factors involved in regulation of splicing of cystic fibrosis transmembrane conductance regulator mRNA with acute respiratory distress syndrome in children with pneumonia.Critical care (London, England) · 2016Article
- Type 2 Diabetes Risk Allele Loci in the Qatari Population.PloS one · 2016Article
15 more citing papers are in PubMed but not listed here.
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Authors and funding
4 authors.
Funding
Abstract
Single-nucleotide polymorphisms (SNPs) may be extremely important for deciphering the impact of genetic variation on complex human diseases. The ultimate value of SNPs for linkage and association mapping studies depends in part on the distribution of SNP allele frequencies and intermarker linkage disequilibrium (LD) across populations. Limited information is available about these distributions on a genomewide scale, particularly for LD. Using 114 SNPs from 33 genes, we compared these distributions in five American populations (727 individuals) of African, European, Chinese, Hispanic, and Japanese descent. The allele frequencies were highly correlated across populations but differed by >20% for at least one pair of populations in 35% of SNPs. The correlation in LD was high for some pairs of populations but not for others (e.g., Chinese American or Japanese American vs. any other population). Regardless of population, average minor-allele frequencies were significantly higher for SNPs in noncoding regions (20%-25%) than for SNPs in coding regions (12%-16%). Interestingly, we found that intermarker LD may be strongest with pairs of SNPs in which both markers are nonconservative substitutions, compared to pairs of SNPs where at least one marker is a conservative substitution. These results suggest that population differences and marker location within the gene may be important factors in the selection of SNPs for use in the study of complex disease with linkage or association mapping methods.
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