GEPHE SUMMARY Print
Entry Status
Published
GepheID
GP00000720
Main curator
Martin
PHENOTYPIC CHANGE
Trait Category
Trait State in Taxon A
Homo sapiens - Northern European
Trait State in Taxon B
Homo sapiens - Northern European
Ancestral State
Data not curated
Taxonomic Status
Taxon A
Latin Name
Common Name
human
Synonyms
human; man; Homo sapiens Linnaeus, 1758; Home sapiens; Homo sampiens; Homo sapeins; Homo sapian; Homo sapians; Homo sapien; Homo sapience; Homo sapiense; Homo sapients; Homo sapines; Homo spaiens; Homo spiens; Humo sapiens
Rank
species
Lineage
Show more ... opterygii; Dipnotetrapodomorpha; Tetrapoda; Amniota; Mammalia; Theria; Eutheria; Boreoeutheria; Euarchontoglires; Primates; Haplorrhini; Simiiformes; Catarrhini; Hominoidea; Hominidae; Homininae; Homo
NCBI Taxonomy ID
is Taxon A an Infraspecies?
No
Taxon B
Latin Name
Common Name
human
Synonyms
human; man; Homo sapiens Linnaeus, 1758; Home sapiens; Homo sampiens; Homo sapeins; Homo sapian; Homo sapians; Homo sapien; Homo sapience; Homo sapiense; Homo sapients; Homo sapines; Homo spaiens; Homo spiens; Humo sapiens
Rank
species
Lineage
Show more ... opterygii; Dipnotetrapodomorpha; Tetrapoda; Amniota; Mammalia; Theria; Eutheria; Boreoeutheria; Euarchontoglires; Primates; Haplorrhini; Simiiformes; Catarrhini; Hominoidea; Hominidae; Homininae; Homo
NCBI Taxonomy ID
is Taxon B an Infraspecies?
No
GENOTYPIC CHANGE
Presumptive Null
Molecular Type
Aberration Type
Molecular Details of the Mutation
unknown
Experimental Evidence
Authors
Estrada K; Krawczak M; Schreiber S; van Duijn K; Stolk L; van Meurs JB; Liu F; Penninx BW; et al. ... show more
Abstract
Northwestern Europeans are among the tallest of human populations. The increase in body height in these people appears to have reached a plateau, suggesting the ubiquitous presence of an optimal environment in which genetic factors may have exerted a particularly strong influence on human growth. Therefore, we performed a genome-wide association study (GWAS) of body height using 2.2 million markers in 10 074 individuals from three Dutch and one German population-based cohorts. Upon genotyping, the 12 most significantly height-associated single nucleotide polymorphisms (SNPs) from this GWAS in 6912 additional individuals of Dutch and Swedish origin, a genetic variant (rs6717918) on chromosome 2q37.1 was found to be associated with height at a genome-wide significance level (P(combined) = 3.4 x 10(-9)). Notably, a second SNP (rs6718438) located approximately 450 bp away and in strong LD (r(2) = 0.77) with rs6717918 was previously found to be suggestive of a height association in 29 820 individuals of mainly northwestern European ancestry, and the over-expression of a nearby natriuretic peptide precursor type C (NPPC) gene, has been associated with overgrowth and skeletal anomalies. We also found a SNP (rs10472828) located on 5p14 near the natriuretic peptide receptor 3 (NPR3) gene, encoding a receptor of the NPPC ligand, to be associated with body height (P(combined) = 2.1 x 10(-7)). Taken together, these results suggest that variation in the C-type natriuretic peptide signaling pathway, involving the NPPC and NPR3 genes, plays an important role in determining human body height.
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