Analysis of variants in DNA damage signalling genes in bladder cancer

BMC Medical Genetics

Table 5 Haplotype analysis for association with bladder cancer risk

Gene	Haplotype (%)*	OR (95% CI)	p-value
NBS1
	AAATGCG (59.3)	1.0
	AGAGCTC (25.5)	1.06 (0.90–1.26)	0.49
	AGAGCTG (6.4)	1.13 (0.86–1.49)	0.44
	Rare<5% (8.8)	1.04 (0.88–1.22)	0.55
MRE11
	AACA (34.2)	1.0
	AACG (26.3)	0.88 (0.68–1.13)	0.32
	AGTA (22.2)	0.83 (0.68–1.01)	0.07
	GACG (10.2)	0.92 (0.76–1.11)	0.38
	Rare<5% (7.1)	0.90 (0.73–1.10)	0.34
ATM
	TGG (52.0)	1.0
	AAA (43.3)	0.97 (0.84–1.13)	0.73
	Rare<5% (4.7)	1.01 (0.87–1.17)	0.77
H2AX
	AGG (55.9)	1.0
	GAA (35.5)	1.11 (0.95–1.29)	0.20
	GAG (6.8)	1.13 (0.87–1.46)	0.44
	Rare<5% (1.8)	1.02 (0.86–1.21)	0.61

SNPs with a minor allele frequency less than 1% were excluded
NBS1 SNPs were, in order, rs1448 (A/G) rs9995 (A/G) rs13312986 (A/G) rs1063054 (T/G) rs2735383 (G/C) rs1063053 (C/T) rs1805794 (G/C)
MRE11 SNPs were, in order, rs2155209 (A/G) rs641936 (A/G) rs535801 (C/T) rs497763 (G/A)
ATM SNPs were, in order, rs582157 (T/A) rs1263936 (G/A) rs609261 (A/G)
H2AX SNPs were, in order, rs643788 (A/G) rs8551 (G/A) rs7350 (G/A)
* Percentage frequencies of haplotype(s) are indicated in brackets

ISSN: 1471-2350