Genomic Distribution of APOE Sequence Diversity in the Core Sample
| Sequence[i] | Jackson (2n = 48) | North Karelia (2n = 48) | Rochester (2n = 48) | Total (2n = 144) | |||||
| S[ii] | π (×10−4)[iii] | S | π (×10−4) | S | π (×10−4) | S | π (×10−4) | ||
| mRNA | 3 | 3.06 ± 3.04 | 2 | 3.83 ± 3.48 | 3 | 4.98 ± 4.10 | 4 | 4.04 ± 3.56 | |
| Non-mRNA | 11 | 4.71 ± 2.69 | 11 | 6.10 ± 3.31 | 10 | 6.74 ± 3.60 | 17 | 6.07 ± 3.26 | |
| 5′ | 6 | 9.72 ± 6.61 | 3 | 7.29 ± 5.43 | 3 | 12.17 ± 7.77 | 7 | 10.28 ± 6.80 | |
| 3′ | 2 | 1.47 ± 2.29 | 3 | 5.28 ± 4.78 | 3 | 5.61 ± 4.96 | 3 | 4.28 ± 4.16 | |
| Intron | 3 | 3.66 ± 2.60 | 5 | 5.87 ± 3.65 | 4 | 4.87 ± 3.13 | 7 | 4.87 ± 3.14 | |
| Repeat | 6 | 3.77 ± 2.84 | 5 | 3.58 ± 2.74 | 5 | 6.34 ± 4.07 | 8 | 4.79 ± 3.30 | |
| Nonrepeat | 5 | 5.50 ± 3.51 | 6 | 8.23 ± 4.76 | 5 | 7.08 ± 4.23 | 9 | 7.16 ± 4.22 | |
| Total | 14 | 4.36 ± 2.41 | 13 | 5.62 ± 2.97 | 13 | 6.37 ± 3.30 | 21 | 5.65 ± 2.95 | |
[i] Sequence scanned for each region was mRNA: 1156 bp, non-MRNA: 4335 bp, 5′: 1059 bp, 3′: 846 bp, intron: 2430 bp, repeat: 1987 bp, and nonrepeat: 2348 bp, and total: 5491 bp.
[ii] S is the number of variable sites detected, excluding the indel at 5229A.
[iii] Average pairwise sequence difference; SE derived from stochastic and sampling variance, assuming no recombination (Tajima 1993).