Table 1.

Results of Genetic Association Analysis of Three Physiological Traits in Bange Tibetans.

Trait	Gene	SNP ID	Male (n=219)		Female (n=289)		All (n=508)
			Beta	EMP′	Beta	EMP′	Beta	EMP″	R2 (%)
Hb	EGLN1	rs12097901	−12.19	2.8E-04	−4.11	0.07	−7.41	8.9E-05	2.11
		rs186996510	−5.95	0.02	−2.05	0.27	−3.79	0.02	0.77
	EPAS1	rs149594770	−4.40	0.06	−3.72	0.03	−4.04	6.7E-03	1.40
		rs370299814	−5.27	0.04	−2.60	0.20	−3.80	0.02	1.33
		rs73926265	−10.82	1.9E-04	−8.00	9.0E-04	−9.47	1.0E-06	4.93
		rs188801636	−8.44	4.3E-03	−7.90	9.7E-03	−8.14	1.2E-04	3.83
	/	TED	−4.88	0.08	−5.19	8.0E-03	−5.04	1.2E-03	1.91
PAP	EGLN1	rs12097901	−1.30	0.48	−0.53	0.70	−0.77	0.44	0.23
		rs186996510	1.11	0.46	−1.59	0.19	−0.59	0.75	0.27
	EPAS1	rs149594770	1.36	0.44	−2.83	6.5E-03	−1.20	0.12	0.68
		rs370299814	1.30	0.42	−1.37	0.24	−0.32	0.86	0.11
		rs73926265	−0.32	0.86	−3.08	0.03	−1.99	0.04	0.99
		rs188801636	−0.41	0.86	−2.21	0.18	−1.33	0.41	0.20
	/	TED	1.74	0.20	−0.36	0.64	0.41	0.86	0.08
SaO2	EGLN1	rs12097901	−0.34	0.75	−0.29	0.86	−0.29	0.46	0.05
		rs186996510	0.48	0.59	0.05	1.00	0.27	0.56	0.17
	EPAS1	rs149594770	−0.92	0.07	0.26	0.86	−0.27	0.56	0.09
		rs370299814	−1.14	0.07	−0.70	0.15	−0.89	0.04	0.87
		rs73926265	−1.27	0.05	0.09	0.86	−0.61	0.26	0.33
		rs188801636	−1.01	0.17	−0.07	0.86	−0.58	0.32	0.50
	/	TED	−0.79	0.27	0.24	0.75	−0.22	0.52	0.05

Note.—All presented P values (EMP′ and EMP″) were subject to multiple test corrections with age (EMP′) or age and sex (EMP″). The significant P values (P < 0.05) are highlighted. R² (%) indicates the percentage of the explained variance of a trait by an EPAS1 variant. The two nonsynonymous SNPs of EGLN1 cause amino acid changes from aspartic acid to glutamic acid (rs186996510) and from cysteine to serine (rs12097901). Hb, hemoglobin concentration; PAP, systolic pulmonary arterial pressure; SaO₂, degree of blood oxygen saturation.