P3-249: Investigation for the presence of CNVs in SOD2 in the National Institute of Mental Health Alzheimer's Disease Genetics Initiative (NIMH-ADGI) cohort

Abstract

We recently reported an association of several SNPs in SOD2 to the NIMH-ADGI cohort. Although some of these SNPs are located within or near functional areas of the gene, they are located in the same LD block, therefore it is unknown if they or another genetic variant(s) in LD with these SNPs accounts for the observed association. Recently, extensive numbers of copy number variations (CNVs) have been identified in the human genome of normal individuals while succeptibility to several complex disorders have been found associated with CNVs. There are three known CNVs located within and around SOD2 and we identified a region that overlaps all three of these CNVs. A custom probe to a common sequence overlapping the three know CNVs in and around SOD2 was designed. Using the TaqMan Real-Time PCR assay and a reference gene, we determined the copy number of these CNVs in affected and unaffected family members from the NIMH-ADGI initiative. Family based association testing was performed on the data. Preliminary results indicates one or more of these CNVs are present in the subjects tested. Final results will be presented at the meeting. If a probe can be custom designed, the TaqMan real-time assay can be used to determine copy number in specific regions in the genome. Discussion on final results will be presented at the meeting.