Genetic variants associated with breast size also influence breast cancer risk

BMC Medical Genetics

Table 1 Index SNPs for regions under p = 10 ^-6

SNP	Chr	Position	Gene	Allele	MAF	HWE	$r_{V 2}^{2}$	$r_{V 3}^{2}$	p-value	β
rs7816345	8	36846109	ZNF703	C/T	0.194	0.08	1.00	1.00	1.64·1⁰⁻¹⁴	-0.151 (-0.189 – -0.112)
rs4849887	2	121245122	INHBB	C/T	0.113	0.97	1.00	0.94	3.31·1⁰⁻¹¹	0.166 (0.117 – 0.214)
rs17625845	2	121089731	INHBB	T/C	0.205	0.07	0.72	0.99	4.7·1⁰⁻¹⁰	0.125 (0.086 – 0.164)
rs12173570	6	151957714	ESR1	C/T	0.101	0.82	0.98	0.99	5.58·1⁰⁻¹¹	0.171 (0.120 – 0.222)
rs7089814	10	64187564	ZNF365	T/C	0.375	0.97	0.94	0.98	3.3·1⁰⁻⁹	0.096 (0.064 – 0.128)
rs12371778	12	28156081	PTHLH	C/G	0.091	0.72	0.85	0.87	1.03·1⁰⁻⁸	-0.162 (-0.217 – -0.106)
rs62314947	4	75502487	AREG	C/T	0.281	0.31	0.73	0.91	4.79·1⁰⁻⁸	-0.101 (-0.137 – -0.065)
rs4820792	22	29161007	CHEK2	C/T	0.180	0.01	0.95	0.97	4.17·1⁰⁻⁷	0.105 (0.065 – 0.146)
chr22:40779964	22	40779964	MKL1	G/A	0.056	0.05	0.75	0.78	5.47·1⁰⁻⁷	-0.187 (-0.261 – -0.114)
rs61280460	14	94796184	SERPINA6	A/T	0.199	0.29	1.00	1.00	8.3·1⁰⁻⁷	-0.095 (-0.132 – -0.057)

The index SNP is defined as the SNP with the smallest p-value within a region; or the SNP with the smallest p-value in the conditional analysis. The listed gene is our postulated candidate gene near the SNP. For INHBB, conditional analysis revealed two independent SNPs in the region. Alleles are listed as major/minor (in Europeans). MAF is the frequency of the minor allele in Europeans and $r_{V 2}^{2}$ and $r_{V 3}^{2}$ are the estimated imputation accuracies on the two genotyping platforms. HWE is the p-value for Hardy-Weinberg equilibrium (calculated on rounded dosages). The coefficient βrefers to the average change in breast size (in units of cup size) per copy of the minor allele.

ISSN: 1471-2350