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NeuroImage
Article . 2007 . Peer-reviewed
License: Elsevier TDM
Data sources: Crossref
image/svg+xml art designer at PLoS, modified by Wikipedia users Nina, Beao, JakobVoss, and AnonMoos Open Access logo, converted into svg, designed by PLoS. This version with transparent background. http://commons.wikimedia.org/wiki/File:Open_Access_logo_PLoS_white.svg art designer at PLoS, modified by Wikipedia users Nina, Beao, JakobVoss, and AnonMoos http://www.plos.org/
NeuroImage
Article . 2007
DBLP
Article
Data sources: DBLP
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Investigation of MCPH1 G37995C and ASPM A44871G polymorphisms and brain size in a healthy cohort

Authors: Carol Dobson-Stone; Justine M. Gatt; S. A. Kuan; Stuart M. Grieve; Evian Gordon; Leanne M. Williams; Peter R. Schofield;

Investigation of MCPH1 G37995C and ASPM A44871G polymorphisms and brain size in a healthy cohort

Abstract

Loss-of-function mutations in MCPH1 and ASPM are responsible for some cases of autosomal recessive primary microcephaly. Recent studies have indicated that certain common variants of these genes have been positively selected for during the evolution of modern humans. It is therefore possible that these variants may predispose to an increase in brain size in the normal human population. We genotyped the MCPH1 G37995C and ASPM A44871G polymorphisms in a cohort of 118 healthy people who had undergone structural magnetic resonance imaging analysis. We did not detect significant association of either MCPH1 G37995C or ASPM A44871G genotype with whole brain volume, cerebral cortical volume or proportion of grey matter in this cohort. Nor did we detect an association of combined MCPH1 37995C and ASPM 44871G allele dosage with these brain measurements. These results were also confirmed in an age-restricted subcohort of 94 individuals. This study suggests that phenotypes other than brain size may have been selected for in ASPM and MCPH1 variants during evolution of modern humans.

Keywords

Adult, Male, Polymorphism, Genetic, Adolescent, Genotype, Brain, Cell Cycle Proteins, Nerve Tissue Proteins, Organ Size, Middle Aged, Biological Evolution, Magnetic Resonance Imaging, Polymerase Chain Reaction, Cytoskeletal Proteins, Image Processing, Computer-Assisted, Microcephaly, Humans, Female, Child, Aged

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    This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
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citations
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
24
Average
Top 10%
Top 10%
gold