rs5984894
This is a intron variant variant in the PCDH11X gene.
▶Research that mentions this SNP (1)
▶Replication study of genome‐wide associated SNPs with late‐onset Alzheimer's diseaseAssociationN=1,969Burns LC et al.(2011)· American Journal of Medical Genetics Part B: Neuropsychiatric Genetics
This is a replication study of 12 SNPs previously associated with late-onset Alzheimer's disease (LOAD) in a large case-control sample of 993 Caucasian American cases and 976 controls. The primary analysis found no statistically significant associations between the 12 SNPs and AD risk. However, the study identified two novel associations: rs16934131 in KCNMA1 was significantly associated with age-at-onset (p=0.0066) and disease duration (p=0.0002), while rs3746319 in ZNF224 was associated with age-at-onset (p=0.002).
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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