Table 2. Allele frequencies of CYP1B1 polymorphisms.
| Controls |
Sporadics |
HPC probands |
|||||
|---|---|---|---|---|---|---|---|
| SNPa | Location | Variant allele | No. of chromosomes with variant (no. of total chromosomes) | No. of chromosomes with variant (no. of total chromosomes) | P-valueb | No. of chromosomes with variant (no. of total chromosomes) | P-valuec |
| −1549A/G | Promoter | G | 70 (350) | 98 (438) | 0.42 | 46 (240) | 0.9 |
| −1001C/T | Promoter | T | 109 (352) | 110 (440) | 0.07 | 71 (240) | 0.63 |
| −263G/A | Intron 1 | A | 112 (366) | 111 (456) | 0.05 | 74 (244) | 0.87 |
| −13C/T | Intron 1 | T | 112 (366) | 113 (454) | 0.07 | 71 (242) | 0.66 |
| +142C/G (R48G) | Exon 2 | G | 114 (368) | 116 (452) | 0.1 | 70 (238) | 0.6 |
| +355G/T (A119S) | Exon 2 | T | 115 (370) | 121 (454) | 0.16 | 74 (244) | 0.77 |
| +3653C/A | Intron 2 | A | 68 (366) | 73 (446) | 0.39 | 33 (232) | 0.16 |
| +4326C/G (L432V) | Exon 3 | G | 160 (364) | 187 (414) | 0.72 | 76 (206) | 0.1 |
| +4379C/T (D449D) | Exon 3 | T | 166 (370) | 193 (424) | 0.84 | 86 (226) | 0.12 |
| +4390A/G (N453S) | Exon 3 | G | 56 (364) | 78 (404) | 0.16 | 43 (224) | 0.23 |
| +5359T/G | 3′UTR | G | 74 (346) | 87 (402) | 0.92 | 48 (258) | 0.34 |
| +5639G/A | 3′UTR | A | 154 (346) | 193 (428) | 0.86 | 88 (236) | 0.09 |
| +7072A/T | 3′UTR | T | 77 (360) | 107 (452) | 0.42 | 48 (238) | 0.88 |
a
Numeric values represent the position (in base pairs) from the transcription start site. The letter represents nucleotide change. The letter and number in each parenthesis represent the amino acid change and the position of the amino-acid change.
b
P-values of χ2 test for allele frequencies with df=1.