Table 2.

Association analysis of 14 variants (11 EPAS1 SNPs, 2 EGLN1 SNPs, and TED) with hemoglobin and blood oxygen saturation in Nepalese Sherpas

Sample	Gene	SNP	Effect allele	Hemoglobin level				Degree of blood oxygen saturation
				BETA	SE	P	Corrected P	BETA	SE	P	Corrected P
Male N = 126	EPAS1	rs149594770	A	0.629	0.257	0.016	0.204	−0.0022	0.0032	0.490	/
	EPAS1	rs140067727	C	−0.671	0.275	0.016	0.214	0.0001	0.0030	0.985	/
	EPAS1	rs113305133	G	−0.901	0.244	3.30E‐04	0.004	−0.0020	0.0030	0.518	/
	EPAS1	rs149306391	G	0.617	0.260	0.019	0.252	0.0026	0.0033	0.426	/
	EPAS1	rs4953354	G	0.468	0.283	0.101	/	−0.0001	0.0035	0.983	/
	EPAS1	rs188801636	C	0.610	0.243	0.013	0.172	0.0007	0.0030	0.819	/
	EPAS1	rs6544889	G	0.599	0.239	0.013	0.174	−0.0002	0.0029	0.947	/
	EPAS1	SNP155	C	0.196	0.193	0.311	/	−0.0001	0.0023	0.959	/
	EPAS1	rs116611511	G	0.722	0.233	0.002	0.032	0.0003	0.0029	0.929	/
	EPAS1	rs58160876	C	0.665	0.239	0.006	0.081	0.0003	0.0029	0.920	/
	EPAS1	rs12467821	C	0.806	0.252	0.002	0.023	−0.0006	0.0031	0.854	/
	TED	Deletion	Zero copy	0.930	0.262	0.001	0.007	0.0012	0.0033	0.710	/
	EGLN1	rs186996510	C	−0.173	0.251	0.491	0.982	0.0015	0.0030	0.617	/
	EGLN1	rs12097901	G	−0.154	0.252	0.543	/	0.0002	0.0030	0.959	/
Female N = 171	EPAS1	rs149594770	A	0.023	0.213	0.916	/	−0.0023	0.0022	0.302	/
	EPAS1	rs140067727	C	0.083	0.233	0.723	/	0.0040	0.0022	0.072	0.930
	EPAS1	rs113305133	G	−0.028	0.217	0.896	/	0.0048	0.0022	0.030	0.388
	EPAS1	rs149306391	G	0.652	0.244	0.008	0.106	−0.0015	0.0026	0.565	/
	EPAS1	rs4953354	G	−0.128	0.248	0.607	/	−0.0012	0.0026	0.654	/
	EPAS1	rs188801636	C	0.457	0.237	0.055	0.718	0.0005	0.0025	0.848	/
	EPAS1	rs6544889	G	0.359	0.241	0.138	/	−0.0009	0.0025	0.720	/
	EPAS1	SNP155	C	0.246	0.176	0.165	/	−0.0013	0.0018	0.478	/
	EPAS1	rs116611511	G	0.286	0.235	0.227	/	0.0005	0.0024	0.835	/
	EPAS1	rs58160876	C	0.350	0.234	0.136	/	0.0005	0.0024	0.832	/
	EPAS1	rs12467821	C	0.406	0.247	0.103	/	0.0003	0.0026	0.900	/
	TED	Deletion	Zero copy	1.004	0.276	3.63E‐04	0.005	−0.0010	0.0029	0.727	/
	EGLN1	rs186996510	C	0.323	0.192	0.094	0.189	0.0002	0.0021	0.924	/
	EGLN1	rs12097901	G	0.333	0.208	0.111	0.222	−0.0010	0.0024	0.656	/
All N = 297	EPAS1	rs149594770	A	0.293	0.183	0.110	/	−0.0023	0.0018	0.207	/
	EPAS1	rs140067727	C	−0.271	0.197	0.170	/	0.0024	0.0018	0.198	/
	EPAS1	rs113305133	G	−0.430	0.182	0.019	0.242	0.0020	0.0018	0.275	/
	EPAS1	rs149306391	G	0.722	0.198	3.16E‐04	0.004	0.0002	0.0020	0.932	/
	EPAS1	rs4953354	G	0.211	0.208	0.312	/	−0.0009	0.0021	0.654	/
	EPAS1	rs188801636	C	0.674	0.185	3.25E‐04	0.004	0.0001	0.0019	0.956	/
	EPAS1	rs6544889	G	0.630	0.185	0.001	0.010	−0.0010	0.0019	0.589	/
	EPAS1	SNP155	C	0.338	0.142	0.018	0.235	−0.0011	0.0014	0.443	/
	EPAS1	rs116611511	G	0.643	0.182	4.66E‐04	0.006	−0.0001	0.0019	0.966	/
	EPAS1	rs58160876	C	0.640	0.183	0.001	0.007	0.0000	0.0019	0.982	/
	EPAS1	rs12467821	C	0.750	0.194	1.31E‐04	0.002	−0.0006	0.0020	0.761	/
	TED	Deletion	Zero copy	1.032	0.209	1.32E‐06	1.71E‐05	0.0000	0.0022	0.983	/
	EGLN1	rs186996510	C	0.051	0.166	0.759	/	0.0008	0.0018	0.629	/
	EGLN1	rs12097901	G	0.029	0.174	0.866	/	−0.0003	0.0019	0.872	/

Bold values indicated those p values <0.05.