TABLE 1.
Affected and Unaffected Subjects and Ancestry |
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---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Genotyped Affected |
Genotyped Unaffected |
Families |
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European |
Other |
European |
Other |
Other |
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Site | N | Male | N | Male | N | Male | N | Male | Total | European | Mediterranean | Admix1 | Admix2 | Admix3 | Malabar | Total |
Australia/United States | 128 | 0.63 | 2 | 0.50 | 107 | 0.49 | 1 | 0.00 | 238 | 57 | 1 | 0 | 0 | 0 | 0 | 58 |
Cardiff | 43 | 0.70 | 2 | 0.50 | 30 | 0.33 | 2 | 0.50 | 77 | 21 | 0 | 0 | 0 | 0 | 0 | 21 |
Johns Hopkins | 282 | 0.64 | 6 | 0.67 | 261 | 0.44 | 3 | 0.33 | 552 | 122 | 1 | 0 | 0 | 0 | 0 | 123 |
Illinois/NorthShore | 118 | 0.74 | 2 | 1.00 | 92 | 0.48 | 1 | 0.00 | 213 | 53 | 1 | 0 | 0 | 0 | 0 | 54 |
Paris | 53 | 0.57 | 99 | 0.62 | 37 | 0.54 | 83 | 0.36 | 272 | 21 | 0 | 11 | 11 | 5 | 8 | 56 |
VCU/Ireland | 399 | 0.67 | 0 | — | 286 | 0.43 | 0 | — | 685 | 216 | 0 | 0 | 0 | 0 | 0 | 216 |
Western Australia/Germany | 195 | 0.52 | 28 | 0.57 | 177 | 0.47 | 24 | 0.50 | 424 | 91 | 12 | 0 | 0 | 0 | 0 | 103 |
Total | 1,218 | 0.64 | 139 | 0.61 | 990 | 0.45 | 114 | 0.39 | 2,461 | 581 | 15 | 11 | 11 | 5 | 8 | 631 |
Shown are the number of genotyped affected and unaffected subjects and the proportion of males in each group, and the number of families with each genotypic ancestry (Admix1, Admix2, and Admix3 are admixed European/African families with increasing proportions of African admixture, as shown in Figure S2 in the online data supplement; Malabar refers to La Reunion families of South Indian origin). Subjects were drawn from seven samples previously collected for linkage studies. All families were multiplex (had at least two narrow-diagnosis cases ascertained), but some had only one affected case in the nuclear family that was selected as informative, or because DNA was not available or failed quality control for some cases. Based on power analyses of simulated data to optimize power in relation to cost, analyses included nuclear families with one case and at least one parent, or with two or more cases and zero to two genotyped parents; plus unaffected siblings where available (up to two with no genotyped parents and one with one genotyped parent). The number of affected cases available and selected for genotyping was 1 (102 families), 2 (391 families), 3 (104 families), 4 (20 families), 5 (7 families), 6 (3 families), or 7 (4 families). The primary analysis included the European-ancestry families. Most of the non-European families were from La Réunion Island (Paris VI site) and were included because of large size. VCU=Virginia Commonwealth University.