. Author manuscript; available in PMC: 2016 Aug 1.

Published in final edited form as: Endocr Relat Cancer. 2015 Oct;22(5):851–861. doi: 10.1530/ERC-15-0319

Table 1.

Associations of ESR1 SNPs previously reported to be associated with endometrial cancer.

SNP Chr:Position (b37)	Effect/Reference Allele	Frequency of Effect Allele	Imputation information Score	Genotyped/Imputed	All Cases		Endometrioid Only		r2 with rs79575945	Direction of effect relative to effect allele (Reference reporting association with endometrial cancer) ^a
SNP Chr:Position (b37)	Effect/Reference Allele	Frequency of Effect Allele	Imputation information Score	Genotyped/Imputed	OR (95 % CI)	P	OR (95 % CI)	P	r2 with rs79575945
rs2234693 6: 152163335	T/C	0.46	1.00	Genotyped	0.98 (0.94–1.02)	0.35	0.98 (0.94–1.02)	0.32	0.12	(↓) (Ashton et al. 2009) (↓) (Einarsdottir et al. 2009) (↑) (Iwamoto et al. 2003) (↑) (Wedren et al. 2008)
rs9340799 6: 152163381	A/G	0.35	1.00	Genotyped	1.04 (1.0–1.08)	0.08	1.04 (1.00–1.09)	0.06	0.06	(↓) (Ashton et al. 2009) (↓) (Einarsdottir et al. 2009) (↑) (Iwamoto et al. 2003) (↑) (Wedren et al. 2008)
rs3853250 6: 152159900	T/G	0.46	0.99	Imputed	0.98 (0.94–1.02)	0.35	0.98 (0.94–1.02)	0.32	0.12	(↓) (Einarsdottir et al. 2009)
rs1709181 6: 152175180	T/C	0.26	0.98	Imputed	1.02 (0.98–1.07)	0.40	1.03 (0.99–1.08)	0.15	0.07	(↓) (Einarsdottir et al. 2009)
rs4870057 6: 152171898	A/G	0.33	0.91	Imputed	1.04 (0.99–1.08)	0.11	1.04 (0.99–1.09)	0.09	0.05	(↓) (Einarsdottir et al. 2009)
rs2046210 6: 151948366	G/A	0.34	1.00	Genotyped	1.03 (0.99–1.07)	0.18	1.03 (0.99–1.08)	0.17	0.0005	(↓) (Li et al. 2011)
rs2077647 6: 152129077	T/C	0.48	1.00	Genotyped	0.99 (0.96–1.04)	0.78	1.00 (0.96–1.04)	0.85	0.11	(↑) (Sasaki et al. 2002)
rs1801132 6: 152265522	G/C	0.22	0.98	Imputed	1.03 (0.98–1.08)	0.27	1.01 (0.96–1.07)	0.65	0.01	(↑) (Sliwinski et al. 2010)

SNPs previously reported as significantly associated with endometrial cancer risk were selected from a literature search. Significance thresholds were stated as P < 0.05 in all publications. Sample sizes for studies were as follows: Ashton - 191 cases and 291 controls, Einarsdottir - 713 cases and 1567 controls, Iwamoto - 92 cases and 65 controls, Li - 953 cases and 947 controls, Sasaki - 113 cases and 200 controls, Sliwinski - 100 cases and 100 controls, Wedren - 702 cases and 1563 controls.