rs3800324
This is a protein-altering variant in the PGBD1 gene.
▶Research that mentions this SNP (1)
▶Association studies of 22 candidate SNPs with late‐onset Alzheimer's diseaseAssociationN=2,019Figgins JA et al.(2009)· American Journal of Medical Genetics Part B: Neuropsychiatric Genetics
This replication study tested 22 candidate SNPs for association with late-onset Alzheimer's disease in 1,009 cases and 1,010 controls of Caucasian descent. While the primary analysis found no significant associations with AD risk, the study identified notable associations with age-at-onset (rs2074877 in MYH13, p=0.00196) and disease duration (rs41271951 in CTSS and rs41310885 in FAM63A, p=0.006 and p=0.0014, respectively).
About PGBD1
The piggyBac family of proteins, found in diverse animals, are transposases related to the transposase of the canonical piggyBac transposon from the moth, Trichoplusia ni. This family also includes genes in several genomes, including human, that appear to have been derived from the piggyBac transposons. This gene belongs to the subfamily of piggyBac transposable element derived (PGBD) genes. The PGBD proteins appear to be novel, with no obvious relationship to other transposases, or other known protein families. This gene product is specifically expressed in the brain, however, its exact function is not known. Alternative splicing results in multiple transcript variants encoding the same protein.[provided by RefSeq, May 2010]
View all PGBD1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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