Table II.
Case/control | Age | Smoking | New rare variants |
SNPs associated with bladder cancer risk |
||||
c.2251-37 C>A Intron 11 rs2470353 | c.1177 C>T Arg393Trp rs121965090 | c.905 T>C Phe302Ser rs121965091 | c.*156G>A 3′ UTR rs121965092 | c.1496C>T Ala499Val (rs2228000) | c.*611 T>A, Ex15-184 (rs2470352) and c.*618 A>Ga, Ex15-177 (rs2470458) | |||
Cases | ||||||||
1 | 86 | 48years | wt | het | wt | wt | wt | wt |
2 | 82 | 16 years | wt | het | wt | wt | wt | wt |
3 | 79 | non-smoker | bwt | wt | het | wt | het | het |
4 | 75 | 31 years | wt | het | wt | wt | wt | wt |
5 | 76 | 40 years | bwt | wt | wt | het | wt | wt |
6 | 63 | 4 years | wt | wt | het | wt | wt | wt |
7 | 63 | 37 years | wt | het | wt | wt | wt | wt |
8 | 62 | non-smoker | bwt | het | wt | wt | het | het |
9 | 80 | 49 years | wt | het | wt | wt | cwt | wt |
10 | 73 | 27 years | bwt | het | wt | wt | cwt | wt |
11 | 76 | non-smoker | het | wt | wt | wt | wt | het |
12 | 78 | 20 years | het | wt | wt | wt | cwt | het |
Controls | ||||||||
1 | 62 | non-smoker | bwt | het | wt | wt | het | het |
2 | 66 | non-smoker | bwt | het | wt | wt | wt | wt |
3 | 73 | 37 years | bwt | het | wt | wt | wt | wt |
4 | 79 | 23 years | bwt | wt | het | wt | wt | wt |
These are compared with three SNPs associated with increased bladder cancer risk in Sak et al. (17). The 2% minor allele frequency SNP c.621 + 22G>A was wild-type in all 16 individuals.
rs2470352 and rs2470458 are in complete linkage.
Heterozygote for common SNP rs2470353 C>G.
SNP genotypes in cases 9, 10 and 12 were established by direct sequencing, as they were not included in the original 547 cases:579 control study.