Linkage Disequilibrium and Human Genetic Studies View Homepage


Ontology type: schema:MonetaryGrant     


Grant Info

YEARS

1998-2010

FUNDING AMOUNT

10961861 USD

ABSTRACT

Linkage disequilibrium is a higher order statistical means of describing the associations of alleles at separate loci along the genome. As such it is a function of the haplotype frequencies for segments of the DNA of each chromosome. Those frequencies, in turn, reflect the accumulated influences through time from recombination, random genetic drift determined by population demographic history, selection, mutation, and chromosomal region effects. Recently, studies of a few human populations for some chromosomes and chromosome segments have suggested that linkagedisequilibrium is organized in blocks within which very high levels of association exist among alleles at all sites as a result of very few haplotypes being present. The blocks would appear to be defined by regions of low recombination bounded by highly punctate recombination. Our data from the previous funding period suggest that this picture is overly simplified with great variation around the genome and that the stochastic aspects of historical recombination and random genetic drift are very important factors. We now propose to expand those studies to cover larger segments of the genome at greater marker density in a larger number of populations from around the world. The research will involve collection of marker data on about 2500 individuals from approximately 40 populations using primarily a new SNP typing method that will allow high throughput at modest cost per marker. In total over 14 Mb of sequence will be studied, distributed as one long region (12 Mb) at 17q21 and 12 shorter regions of 200 kb each on 10 chromosomes. All regions will be covered at a density of less than 10 kb between markers. In addition to standard LD analyses, theoretical and statistical studies and computer simulations will be undertaken to improve our ability to make inferences on the factors that are primarily responsible for the patterns seen. The data will be made publicly available through ALFRED, an existing Web-accessible database. More... »

URL

http://projectreporter.nih.gov/project_info_description.cfm?aid=7367867

Related SciGraph Publications

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  • 2012-08. Reconstructing Native American population history in NATURE
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  • 2011-03. A Variant in a MicroRNA complementary site in the 3′ UTR of the KIT oncogene increases risk of acral melanoma in ONCOGENE
  • 2011-01. An Application of the Elastic Net for an Endophenotype Analysis in BEHAVIOR GENETICS
  • 2010-02. The complex global pattern of genetic variation and linkage disequilibrium at catechol-O-methyltransferase in MOLECULAR PSYCHIATRY
  • 2009-08. Global variation in CYP2C8–CYP2C9 functional haplotypes in THE PHARMACOGENOMICS JOURNAL
  • 2008-10. Global patterns of variation in allele and haplotype frequencies and linkage disequilibrium across the CYP2E1 gene in THE PHARMACOGENOMICS JOURNAL
  • 2007-03. Significant variation in haplotype block structure but conservation in tagSNP patterns among global populations in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2006-12. PSMIX: an R package for population structure inference via maximum likelihood method in BMC BIOINFORMATICS
  • 2006-12. A non-parametric approach to population structure inference using multilocus genotypes in HUMAN GENOMICS
  • 2005-10. Use of autosomal loci for clustering individuals and populations of East Asian origin in HUMAN GENETICS
  • 2005-05. Linkage disequilibrium patterns vary substantially among populations in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2004-09. COMT haplotypes suggest P2 promoter region relevance for schizophrenia in MOLECULAR PSYCHIATRY
  • 2003-10. Global survey of haplotype frequencies and linkage disequilibrium at the RET locus in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2002-12. Population variation in linkage disequilibrium across the COMT gene considering promoter region and coding region variation in HUMAN GENETICS
  • 2002-06. Categorization of humans in biomedical research: genes, race and disease in GENOME BIOLOGY
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