ArticlePloS one2009
Identification of copy number variants defining genomic differences among major human groups.
Article in PloS one, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
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Who cites it
21 citing papers in PubMed.
- Genome-wide analysis of copy number variants and normal facial variation in a large cohort of Bantu Africans.HGG advances · 2022Article
- Variation of microRNA expression in the human placenta driven by population identity and sex of the newborn.BMC genomics · 2021Article
- A map of copy number variations in the Tunisian population: a valuable tool for medical genomics in North Africa.NPJ genomic medicine · 2021Article
- Transcriptome variation in human populations and its potential application in forensics.Journal of applied genetics · 2019Review
- Transcriptomic population markers for human population discrimination.BMC genetics · 2018Article
- Similar genomic proportions of copy number variation within gray wolves and modern dog breeds inferred from whole genome sequencing.BMC genomics · 2017Article
- Germline copy number variations are associated with breast cancer risk and prognosis.Scientific reports · 2017Article
- The comparative landscape of duplications in Heliconius melpomene and Heliconius cydno.Heredity · 2017Article
- Impact of copy number variations burden on coding genome in humans using integrated high resolution arrays.Genetics research · 2014Article
- Identifying Potential Regions of Copy Number Variation for Bipolar Disorder.Microarrays (Basel, Switzerland) · 2014Article
- A common 56-kilobase deletion in a primate-specific segmental duplication creates a novel butyrophilin-like protein.BMC genetics · 2013Article
- Worldwide population distribution of the common LCE3C-LCE3B deletion associated with psoriasis and other autoimmune disorders.BMC genomics · 2013Article
- The utility of copy number variation (CNV) in studies of hypertension-related left ventricular hypertrophy (LVH): rationale, potential and challenges.Molecular cytogenetics · 2013Article
- Article
- Copy number variation signature to predict human ancestry.BMC bioinformatics · 2012Article
- Bayesian model to detect phenotype-specific genes for copy number data.BMC bioinformatics · 2012Article
- Current genetic methodologies in the identification of disaster victims and in forensic analysis.Journal of applied genetics · 2012Review
- Copy number variations of chromosome 17p13.1 might be linked to high risk of lung cancer in heavy smokers.Molecular biology reports · 2011Article
- Pharmacogenomic technologies: a necessary "luxury" for better global public health?Globalization and health · 2011Article
- A map of copy number variations in Chinese populations.PloS one · 2011Article
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Authors and funding
8 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundUnderstanding the genetic contribution to phenotype variation of human groups is necessary to elucidate differences in disease predisposition and response to pharmaceutical treatments in different human populations. METHODOLOGY/PRINCIPAL
findingsWe have investigated the genome-wide profile of structural variation on pooled samples from the three populations studied in the HapMap project by comparative genome hybridization (CGH) in different array platforms. We have identified and experimentally validated 33 genomic loci that show significant copy number differences from one population to the other. Interestingly, we found an enrichment of genes related to environment adaptation (immune response, lipid metabolism and extracellular space) within these regions and the study of expression data revealed that more than half of the copy number variants (CNVs) translate into gene-expression differences among populations, suggesting that they could have functional consequences. In addition, the identification of single nucleotide polymorphisms (SNPs) that are in linkage disequilibrium with the copy number alleles allowed us to detect evidences of population differentiation and recent selection at the nucleotide variation level.
conclusionsOverall, our results provide a comprehensive view of relevant copy number changes that might play a role in phenotypic differences among major human populations, and generate a list of interesting candidates for future studies.
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