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

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 th...

Full description

Saved in:
Bibliographic Details
Published in:NeuroImage (Orlando, Fla.) Fla.), 2007-08, Vol.37 (2), p.394-400
Main Authors: Dobson-Stone, C., Gatt, J.M., Kuan, S.A., Grieve, S.M., Gordon, E., Williams, L.M., Schofield, P.R.
Format: Article
Language:English
Subjects:
Adolescent
Adult
Age
Aged
Biological Evolution
Brain
Brain - anatomy & histology
Brain research
Child
Colleges & universities
Female
Genetic disorders
Genotype
Genotype & phenotype
Haplotypes
Humans
Image Processing, Computer-Assisted
Magnetic Resonance Imaging
Male
Microcephaly
Middle Aged
Mutation
Nerve Tissue Proteins - genetics
NMR
Nuclear magnetic resonance
Organ Size - genetics
Polymerase Chain Reaction
Polymorphism, Genetic
Scholarships & fellowships
Volumetric analysis
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary: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.
ISSN:1053-8119
1095-9572
DOI:10.1016/j.neuroimage.2007.05.011