Family-based association analysis of promoter SNPs in CDKN2A, CDKN2B, CDKN1A, and CDKN1B
Gene and SNP . | Variant . | MAF . | No. of families* . | Statistic† . | E(S)‡ . | Var(S)§ . | Z . | P . |
---|---|---|---|---|---|---|---|---|
CDKN2A | ||||||||
−222T>A | A | .06 | 25 | 19 | 12.5 | 6.3 | 2.60 | .009¶ |
CDKN2B | ||||||||
−1270C>T | T | .05 | 16 | 6 | 8.0 | 4.0 | −1.00 | .32 |
−593A>T,C | T/C | .33/.02 | 81/11 | 53/5 | 66.5/6.0 | 26.3/3.0 | −2.64/−0.58 | .008¶/.56 |
−287G>C | C | .45 | 92 | 94 | 85.5 | 30.3 | 1.55 | .12 |
CDKN1A | ||||||||
−1284T>C | C | .39 | 72 | 66 | 64.5 | 24.3 | 0.31 | .76 |
−899T>G | G | .29 | 62 | 45 | 46.5 | 19.8 | −0.34 | .74 |
−791T>C | C | .43 | 72 | 70 | 69.5 | 24.8 | 0.10 | .92 |
CDKN1B | ||||||||
−1857C>T | T | .11 | 39 | 17 | 21.5 | 10.8 | −1.37 | .17 |
−1608G>A | A | .10 | 41 | 26 | 22.5 | 10.8 | 1.07 | .29 |
−373G>T | T | .41 | 84 | 66 | 73.5 | 29.3 | −1.39 | .17 |
Gene and SNP . | Variant . | MAF . | No. of families* . | Statistic† . | E(S)‡ . | Var(S)§ . | Z . | P . |
---|---|---|---|---|---|---|---|---|
CDKN2A | ||||||||
−222T>A | A | .06 | 25 | 19 | 12.5 | 6.3 | 2.60 | .009¶ |
CDKN2B | ||||||||
−1270C>T | T | .05 | 16 | 6 | 8.0 | 4.0 | −1.00 | .32 |
−593A>T,C | T/C | .33/.02 | 81/11 | 53/5 | 66.5/6.0 | 26.3/3.0 | −2.64/−0.58 | .008¶/.56 |
−287G>C | C | .45 | 92 | 94 | 85.5 | 30.3 | 1.55 | .12 |
CDKN1A | ||||||||
−1284T>C | C | .39 | 72 | 66 | 64.5 | 24.3 | 0.31 | .76 |
−899T>G | G | .29 | 62 | 45 | 46.5 | 19.8 | −0.34 | .74 |
−791T>C | C | .43 | 72 | 70 | 69.5 | 24.8 | 0.10 | .92 |
CDKN1B | ||||||||
−1857C>T | T | .11 | 39 | 17 | 21.5 | 10.8 | −1.37 | .17 |
−1608G>A | A | .10 | 41 | 26 | 22.5 | 10.8 | 1.07 | .29 |
−373G>T | T | .41 | 84 | 66 | 73.5 | 29.3 | −1.39 | .17 |
FBAT analyses were performed under the additive model. Only the results for the minor alleles are shown. MAF indicates minor (ie, variant) allele frequency.
Number of informative families (ie, families with at least one heterozygote parent).
Test statistic from FBAT for the observed number of transmitted alleles.
Expected value of S under the null hypothesis (ie, no linkage or association).
Variance of the test statistic S.
Remained significant following multiple test correction with an FDR of 10%.