Investigation of MCPH1 G37995C and ASPM A44871G polymorphisms and brain size in a healthy cohort
pmid: 17566767
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 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.
- Prince of Wales Medical Research Institute Australia
- University of Sydney Australia
- Neuroscience Research Australia Australia
- Garvan Institute of Medical Research Australia
- UNSW Sydney Australia
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
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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