Evaluation of functional genetic variants at 6q25.1 and risk of breast cancer in a Chinese population

Breast Cancer Research

Table 1 Summary of associations between seven single-nucleotide polymorphisms at 6q25.1 and breast cancer risk ^a

SNP	Position (hg18)	Associated gene	Location	Allele^b	Cases^c(n= 1064)	Controls^c(n = 1073)	MAF^d	HWE^e	Additive model^f
SNP	Position (hg18)	Associated gene	Location	Allele^b	Cases^c(n= 1064)	Controls^c(n = 1073)	MAF^d	HWE^e	OR (95% CI)	P-value
rs9383935	151981541	CCDC170	3' UTR	G/A	414/500/149	528/439/106	0.38/0.30	0.31	1.38 (1.20 to 1.57)	2.21 × 10^-6
rs2046210	151990059	Intergenic	-	G/A	349/517/196	447/475/150	0.43/0.36	0.19	1.32 (1.16 to 1.50)	2.04 × 10^-5
rs488133	152167137	ESR1	intron	G/A	867/184/11	906/160/7	0.10/0.08	1.00	1.15 (0.93 to 1.43)	0.208
rs2228480	152461788	ESR1	Thr594Thr	G/A	682/340/40	633/387/49	0.20/0.23	0.34	0.84 (0.72 to 0.98)	0.025
rs3798577	152462823	ESR1	3' UTR	A/G	336/527/196	305/541/226	0.43/0.46	0.67	0.90 (0.79 to 1.02)	0.093
rs3798758	152463547	ESR1	3' UTR	C/A	520/441/98	577/425/69	0.30/0.26	0.48	1.19 (1.04 to 1.37)	0.013
rs3798757	152465936	ESR1	3' UTR	A/G	856/185/20	879/182/10	0.11/0.09	0.86	1.16 (0.95 to 1.43)	0.149

^aCI, Confidence interval; OR, Odds ratio; SNP, Single-nucleotide polymorphism. ^bMajor/minor allele. ^cMajor homozygote/heterozygote/rare homozygote between cases and controls. ^dMinor allele frequency (MAF) among cases/controls. ^e Hardy-Weinberg equilibrium (HWE) test among controls. ^fLogistic regression with adjustment for age, age at menarche and menopausal status.

ISSN: 1465-542X