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Alzheimer’s Disease Genetics Initiative: Multiplex Family Study Jennifer Williamson Catania, MS Columbia University and NCRAD
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Coordinator Update
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LOAD Statistics
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855 Pedigrees Approved
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Pedigrees approved 9/20/05 855 pedigrees approved Last year: 658 pedigrees Not all pedigrees will be qualifying LOAD families NCRAD families
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Approved pedigrees # affected individuals per family # pedigrees approved % of pedigrees approved 247455.4 323627.6 48710.2 5283.3 6121.4 7 or more182.1 45% of pedigrees approved have 3 or more affected individuals
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NIA Genetics Initiative Families
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Samples at NCRAD as of 9/15/05 SITEFAMILIESSAMPLESSAMPLES WITH MDSSAMPLED PEDIGREES BU1470639 COLUMBIA6448247453 DUKE2392 24 MGH1337358 INDIANA4228824219 MAYO8840740257 MT. SINAI1440 4 NORTHWESTERN622190 OREGON2710710418 RUSH1232290 UCLA20676513 KENTUCKY18116 10 PENN2174 14 PITT17615913 UTSW2516816724 U WASH4715313816 WASH U4530029543 UAB1462490 USC51290 NCRAD417 0 TOTALS51926072489325
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Qualifying/Non-Qualifying Families
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People and families with at least one sample at NCRAD Families = 519, People = 2,607
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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
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Ethnicity of sampled individuals Race/ethnicity# of indMaleFemale White22868631423 Black772552 Asian or Pacific Islander1789 Other17710 Not coded1235271 Missing/unknown532 90% of sampled individuals are white
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Percent Affected Per Family
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Alzheimer’s Disease Subtypes
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Controls
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Minimum Data Set (MDS)
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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
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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
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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.
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