Table 1. Increase in number of informative heterozygotes and associated SNPs using two transcribed SNPs per gene.
| Transcribed SNP | Number (%) of informative heterozygotes in Caucasian cohort (n = 177) | Number (%) of informative heterozygotes in SAcohort (n = 310) | Number (%) of mapping SNPs significantly associated with AER at transcribed SNP(s) in Caucasian cohort* (n = 53 SNPs) | Number (%) of mapping SNPs significantly associated with AER at transcribed SNP(s) in SA cohort* (n = 56 SNPs) |
| CDKN2A rs3088440 | 23 (12%) | 103 (33%) | 5 (9%) | 2 (4%) |
| CDKN2A rs11515 | 33 (18%) | 75 (24%) | 0 (0%) | 9 (16%) |
| CDKN2A markers combined | 54 (29%) | 159 (51%) | 3 (6%) | 11 (20%) |
| CDKN2B rs3217992 | 71 (38%) | 112 (36%) | 0 (0%) | 4 (7%) |
| CDKN2B rs1063192 | 70 (37%) | 87 (28%) | 0 (0%) | 2 (4%) |
| CDKN2B markers combined | 90 (48%) | 164 (53%) | 5 (9%) | 5 (9%) |
| ANRIL rs10965215 | 70 (37%) | 155 (50%) | 25 (47%) | 27 (48%) |
| ANRIL rs564398 | 67 (36%) | 85 (28%) | 23 (43%) | 22 (39%) |
| ANRIL markers combined | 80 (43%) | 187 (61%) | 30 (57%) | 31 (55%) |
*Multiple testing was taken into account by calculating the family wise error rate using a Bonferroni correction for the 56 SNPs tested. Associations with family wise error rate using a threshold of 0.05 (that corresponds to a nominal P value of 8.9×10−4 or −log10P of 3.05) were called significant. SNPs with less than 8 informative heterozygotes were excluded.