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

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 wi

SUBMITTER: Joyner AH 

PROVIDER: S-EPMC2741277 | biostudies-literature | 2009 Sep

REPOSITORIES: biostudies-literature