Table 3. Characteristics of 2 APOE SNPs and the top 5 SNPs selected by performance metrics in stage 2 (N = 619).
Gene | SNP | Nucleotide change | Chromosome/Location | HapMap or dbSNP MAF |
Controls (n = 423) |
Cases (n = 196) |
||||
---|---|---|---|---|---|---|---|---|---|---|
CEU | CHB | JPT | MAF | HWEP-value | MAF | HWE P-value | ||||
APOE | rs429358 (APOE112) | T → C | 19/exon | 0.15* | 0.00 | 0.01 | 0.08 | 0.68 | 0.23 | 0.27 |
APOE | rs7412 (APOE158) | C → T | 19/exon | 0.08* | 0.11 | 0.05 | 0.08 | 0.22 | 0.06 | 0.97 |
APOC1 | rs4420638 | G → A | 19/3′UTR | 0.18 | 0.12 | 0.07 | 0.11 | 0.93 | 0.23 | 0.75 |
CCDC81 | rs10501617 | T → C | 11/intronic | 0.40 | 0.20 | 0.16 | 0.27 | 0.37 | 0.26 | 0.64 |
ZNF521 | rs7230380 | A → C | 18/intronic | 0.47 | 0.49 | 0.50 | 0.50 | 0.90 | 0.48 | 0.36 |
ZNF521 | rs12965520 | T → C | 18/intronic | 0.50 | 0.45 | 0.50 | 0.50 | 0.58 | 0.48 | 0.33 |
CPXM2 | rs2362967 | C → T | 10/intronic | 0.26 | 0.50 | 0.58 | 0.48 | 0.03 | 0.48 | 0.78 |
Abbreviations: SNP, single nucleotide polymorphism; UTR, untranslated region; CEU, Utah residents with Northern and Western European ancestry from the CEPH collection; JPT, Japanese in Tokyo, Japan; CHB, Han Chinese in Beijing; MAF, minor allele frequency; HWE, Hardy-Weinberg equilibrium test.
*MAF data were obtained from dbSNP because the data were not available from the HapMap Project.