Alzheimer’s Disease Genetics Initiative: Multiplex Family Study Jennifer Williamson Catania, MS Columbia University and NCRAD

Coordinator Update

LOAD Statistics

855 Pedigrees Approved

Pedigrees approved 9/20/ pedigrees approved Last year: 658 pedigrees Not all pedigrees will be qualifying LOAD families NCRAD families

Approved pedigrees # affected individuals per family # pedigrees approved % of pedigrees approved or more % of pedigrees approved have 3 or more affected individuals

NIA Genetics Initiative Families

Samples at NCRAD as of 9/15/05 SITEFAMILIESSAMPLESSAMPLES WITH MDSSAMPLED PEDIGREES BU COLUMBIA DUKE MGH INDIANA MAYO MT. SINAI NORTHWESTERN OREGON RUSH UCLA KENTUCKY PENN PITT UTSW U WASH WASH U UAB USC51290 NCRAD417 0 TOTALS

Qualifying/Non-Qualifying Families

People and families with at least one sample at NCRAD Families = 519, People = 2,607

Samples at NCRAD: Progress October 2003 –107 families –378 samples –No data October 2004 –422 families –1885 samples –1298 samples with MDS Fall 2005 –519 families –2607 samples –2489 samples with MDS

Ethnicity of sampled individuals Race/ethnicity# of indMaleFemale White Black Asian or Pacific Islander1789 Other17710 Not coded Missing/unknown532 90% of sampled individuals are white

Percent Affected Per Family

Alzheimer’s Disease Subtypes

Controls

Minimum Data Set (MDS)

MDS 10 “required for all” variables –IDs, sex, sampled, visit 17 “required for sampled” variables –Demographics –Diagnostic information –Evaluation method Other variables –Cognitive testing, other medical conditions, autopsy

MDS Import of data Initial data imports have improved with all sites providing the “required for all” variables. Qualifying families 3 sampled individuals, diagnosis, age of onset, age diagnosed Non-Qualifying families Missing data, incorrect coding for sampled individuals Missing sample

Future Plans Identify and recruit new families meeting NIA- LOAD criteria. Recruitment of ethnic minorities. Identify newly affected family members and appropriate unaffected members in participating families. Develop standardized follow-up procedures. Complete recruitment of 1000 controls and begin follow-up assessments.