Alzheimer’s Disease Genetics Initiative: Multiplex Family Study

Jennifer Williamson Catania, MS

Columbia University and NCRAD

Coordinator Update

LOAD Statistics

855 Pedigrees Approved

0

20

40

60

80

100

120

140

160

180

BU CUDuke

IU UK MGH

Mayo

Mt. Sinai

OHSU

PittPenn

Rush

UABUSC

UCLA

UTSW

UW WU

NCRAD

N'western

Pedigrees approved 9/20/05

• 855 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

2 474 55.4

3 236 27.6

4 87 10.2

5 28 3.3

6 12 1.4

7 or more 18 2.1

45% of pedigrees approved have 3 or more affected individuals

NIA Genetics Initiative Families

855

519

297 276

0

100

200

300

400

500

600

700

800

900

ApprovedOne Sample

MDS Qualifying

MDS Non-qualifying

Samples at NCRAD as of 9/15/05SITE FAMILIES SAMPLES SAMPLES WITH MDS SAMPLED PEDIGREES

BU 14 70 63 9

COLUMBIA 64 482 474 53

DUKE 23 92 92 24

MGH 13 37 35 8

INDIANA 42 288 242 19

MAYO 88 407 402 57

MT. SINAI 14 40 40 4

NORTHWESTERN 6 22 19 0

OREGON 27 107 104 18

RUSH 12 32 29 0

UCLA 20 67 65 13

KENTUCKY 18 116 116 10

PENN 21 74 74 14

PITT 17 61 59 13

UTSW 25 168 167 24

U WASH 47 153 138 16

WASH U 45 300 295 43

UAB 14 62 49 0

USC 5 12 9 0

NCRAD 4 17 17 0

TOTALS 519 2607 2489 325

Qualifying/Non-Qualifying Families

0

10

20

30

40

50

60

BU CU DukeIU M

GHM

ayoM

t. Sinai

OHSU

UK PennPitt

UTSWUW W

UNCRAD

N'western

UABUCLA

USCRush

People and families with at least one sample at NCRAD

050

100150200250300350400450500

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 ind Male Female

White 2286 863 1423

Black 77 25 52

Asian or Pacific Islander 17 8 9

Other 17 7 10

Not coded 123 52 71

Missing/unknown 5 3 2

90% of sampled individuals are white

Percent Affected Per Family

73

18

6 30

10

20

30

40

50

60

70

80

2 or more3 or more

4 or more5 or more

Alzheimer’s Disease Subtypes

6

68

14 12

0

10

20

30

40

50

60

70

Definite ADProbable AD

Possible ADMCI

Controls

0

10

20

30

40

50

60

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.