rs2573905
This is a intron variant variant in the PCDH11X gene.
▶Research that mentions this SNP (1)
▶Replication of CLU, CR1, and PICALM Associations With Alzheimer DiseaseAssociationN=4,405Carrasquillo MM et al.(2010)· Archives of Neurology
This replication study confirms associations between three novel Alzheimer's disease genes (CLU, CR1, and PICALM) and late-onset Alzheimer's disease (LOAD) in an independent cohort of 1,829 LOAD cases and 2,576 controls. The study found CLU rs11136000 (OR=0.82, p=8.6×10⁻⁵), CR1 rs3818361 (OR=1.15, p=0.014), and PICALM rs3851179 (OR=0.80, p=1.3×10⁻⁵) showed comparable direction and magnitude of effect to initial GWAS reports, providing strong independent validation for these novel LOAD susceptibility genes.
About PCDH11X
This gene belongs to the protocadherin gene family, a subfamily of the cadherin superfamily. The encoded protein consists of an extracellular domain containing 7 cadherin repeats, a transmembrane domain and a cytoplasmic tail that differs from those of the classical cadherins. The gene is located in a major X/Y block of homology and its Y homolog, despite divergence leading to coding region changes, is the most closely related cadherin family member. The protein is thought to play a fundamental role in cell-cell recognition essential for the segmental development and function of the central nervous system. Disruption of this gene may be associated with developmental dyslexia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]
View all PCDH11X variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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