Display Settings:

Format

Send to:

Choose Destination
We are sorry, but NCBI web applications do not support your browser and may not function properly. More information
    Proc Natl Acad Sci U S A. 2009 Sep 8;106(36):15483-8. doi: 10.1073/pnas.0901866106. Epub 2009 Aug 26.

    A common MECP2 haplotype associates with reduced cortical surface area in humans in two independent populations.

    Source

    Scripps Translational Science Institute, 3344 North Torrey Pines Court, La Jolla, CA 92037, USA.

    Abstract

    The gene MECP2 is a well-known determinant of brain structure. Mutations in the MECP2 protein cause microencephalopathy and are associated with several neurodevelopmental disorders that affect both brain morphology and cognition. Although mutations in MECP2 result in severe neurological phenotypes, the effect of common variation in this genetic region is unknown. We find that common sequence variations in a region in and around MECP2 show association with structural brain size measures in 2 independent cohorts, a discovery sample from the Thematic Organized Psychosis research group, and a replication sample from the Alzheimer's Disease Neuroimaging Initiative. The most statistically significant replicated association (P < 0.025 in both cohorts) involved the minor allele of SNP rs2239464 with reduced cortical surface area, and the finding was specific to male gender in both populations. Variations in the MECP2 region were associated with cortical surface area but not cortical thickness. Secondary analysis showed that this allele was also associated with reduced surface area in specific cortical regions (cuneus, fusiform gyrus, pars triangularis) in both populations.

    PMID:
    19717458
    [PubMed - indexed for MEDLINE]
    PMCID:
    PMC2741277
    Free PMC Article

    Images from this publication.See all images (2)Free text

    Fig. 1.
    Fig. 2.

      Supplemental Content

      Icon for HighWire Icon for PubMed Central

      Save items

      Recent activity

      Your browsing activity is empty.

      Activity recording is turned off.

      Turn recording back on

      See more...
      Write to the Help Desk