G. Lettre

Structural Variation within the Beta-Globin Gene Cluster Among HbS Haplotype Groups

Pamela Lurie, Bamidele O. Tayo, G. Lettre, Ambroise Wonkman et autres

Abstract BACKGROUND The severity of sickle cell anemia (SCA) has been associated with five specific haplotypes in the beta globin cluster, identifiable by distinct patterns of restriction fragment length polymorphism (RFLP). These RFLP-defined haplotypes, named according to the region where they were …

us, ca, Afrique du Sud, Kenya, Nigéria (code pays fourni par la source)

Comprehensive Integrated Genomic Perturbations Reveal Molecular Mechanisms of Red Blood Cell Trait Associations

Yuxuan Wu, Mitchel A. Cole, Abdou Mousas, Jing Zeng et autres

Abstract Discovery of molecular mechanisms responsible for trait associations as discovered by genome-wide association studies (GWAS) is hampered by difficulty in identifying causal genetic variants due to linkage disequilibrium. Typical assays of genetic function are low throughput or evaluate sequences in heterologous …

us, ca, jp (code pays fourni par la source)

Validation of fatty acid intakes estimated by a food frequency questionnaire using erythrocyte fatty acid profiling in the Montreal Heart Institute Biobank

Valérie Turcot, Joan Brunet, Caroline Daneault, Jean‐Claude Tardif et autres

BACKGROUND: To improve the prevention, treatment and risk prediction of cardiovascular diseases, genetic markers and gene-diet interactions are currently being investigated. The Montreal Heart Institute (MHI) Biobank is suitable for such studies because of its large sample size (currently, n = 17 …

ca (code pays fourni par la source)

Genome-wide association of anthropometric traits in African- and African-derived populations

Seung Joo Kang, Charleston W. K. Chiang, Bamidele O. Tayo, G. Lettre et autres

Genome-wide association (GWA) studies have identified common variants that are associated with a variety of traits and diseases, but most studies have been performed in European-derived populations. Here, we describe the first genome-wide analyses of imputed genotype and copy number variants (CNVs) …

us, ca, gb, jm (code pays fourni par la source)

Hundreds of variants clustered in genomic loci and biological pathways affect human height

Hana Lango Allen, Karel Estrada, G. Lettre, S. I. Berndt et autres

Most common human traits and diseases have a polygenic pattern of inheritance: DNA sequence variants at many genetic loci influence the phenotype. Genome-wide association (GWA) studies have identified more than 600 variants associated with human traits1, but these typically explain small fractions …