Many sequence variants affecting diversity of adult human height
Copyright policy )Many sequence variants affecting diversity of adult human height
Adult human height is one of the classical complex human traits. We searched for sequence variants that affect height by scanning the genomes of 25,174 Icelanders, 2,876 Dutch, 1,770 European Americans and 1,148 African Americans. We then combined these results with previously published results from the Diabetes Genetics Initiative on 3,024 Scandinavians and tested a selected subset of SNPs in 5,517 Danes. We identified 27 regions of the genome with one or more sequence variants showing significant association with height. The estimated effects per allele of these variants ranged between 0.3 and 0.6 cm and, taken together, they explain around 3.7% of the population variation in height. The genes neighboring the identified loci cluster in biological processes related to skeletal development and mitosis. Association to three previously reported loci are replicated in our analyses, and the strongest association was with SNPs in the ZBTB38 gene.
- Johns Hopkins University United States
- Amsterdam UMC Netherlands
- University of Copenhagen Denmark
- Glostrup Hospital Denmark
- University of Copenhagen Denmark
Adult, Male, DCN 1: Perception and Action, Genetic Linkage, DCN 2: Functional Neurogenomics, Mitosis, N4i 1: Pathogenesis and modulation of inflammation, NCMLS 6: Genetics and epigenetic pathways of disease, IGMD 6: Hormonal regulation, Polymorphism, Single Nucleotide, UMCN 5.1: Genetic defects of metabolism, IGMD 3: Genomic disorders and inherited multi-system disorders, Gene Frequency, ONCOL 1: Hereditary cancer and cancer-related syndromes, Humans, IGMD 7: Iron metabolism, NCEBP 2: Evaluation of complex medical interventions, Internal Medicine - Radboud University Medical Center, UMCN 5.2: Endocrinology and reproduction, UMCN 3.2: Cognitive neurosciences, Bone Development, Genome, Human, NCEBP 1: Molecular epidemiology, ONCOL 5: Aetiology, screening and detection, Body Height, DNA-Binding Proteins, Repressor Proteins, ONCOL 3: Translational research, Female, UMCN 1.2: Molecular diagnosis, prognosis and monitoring, NCEBP 14: Cardiovascular diseases, IGMD 5: Health aging / healthy living, EBP 1: Determinants in Health and Disease
Adult, Male, DCN 1: Perception and Action, Genetic Linkage, DCN 2: Functional Neurogenomics, Mitosis, N4i 1: Pathogenesis and modulation of inflammation, NCMLS 6: Genetics and epigenetic pathways of disease, IGMD 6: Hormonal regulation, Polymorphism, Single Nucleotide, UMCN 5.1: Genetic defects of metabolism, IGMD 3: Genomic disorders and inherited multi-system disorders, Gene Frequency, ONCOL 1: Hereditary cancer and cancer-related syndromes, Humans, IGMD 7: Iron metabolism, NCEBP 2: Evaluation of complex medical interventions, Internal Medicine - Radboud University Medical Center, UMCN 5.2: Endocrinology and reproduction, UMCN 3.2: Cognitive neurosciences, Bone Development, Genome, Human, NCEBP 1: Molecular epidemiology, ONCOL 5: Aetiology, screening and detection, Body Height, DNA-Binding Proteins, Repressor Proteins, ONCOL 3: Translational research, Female, UMCN 1.2: Molecular diagnosis, prognosis and monitoring, NCEBP 14: Cardiovascular diseases, IGMD 5: Health aging / healthy living, EBP 1: Determinants in Health and Disease
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