Association of EGLN1 genetic polymorphisms with SpO2 responses to acute hypobaric hypoxia in a Japanese cohort

Table 1 Summary of SNPs examined in the present study

RefSNP ID	Position^a	Region	N	Allele frequency^b		HL allele^d	Allele frequency in highlanders^d	H_obs	H_exp	HWE (P value)^e
RefSNP ID	Position^a	Region	N	Ancestral^c	Derived^c	HL allele^d	Allele frequency in highlanders^d	H_obs	H_exp	HWE (P value)^e
rs480902	1: 231,395,881	EGLN1 intron 1	46	T: 0.413 (38)	C: 0.587 (54)	T	0.71	0.565	0.485	0.37
rs479200	1: 231,408,034	EGLN1 intron 1	46	T: 0.609 (56)	C: 0.391 (36)	C	0.71	0.478	0.476	1.00
rs2808611	1: 231,412,734	EGLN1 intron 1	46	G: 0.424 (39)	A: 0.576 (53)	G	NA	0.500	0.488	1.00
rs12097901	1: 231,421,509	EGLN1 exon 1 (C127S)^f	46	G: 0.533 (49)	C: 0.467 (43)	C	0.90	0.457	0.498	0.56
rs186996510	1: 231,421,877	EGLN1 exon 1 (D4E)^f	46	C: 0.967 (89)	G: 0.033 (3)	G	0.81	0.022	0.063	0.03
rs2790859	1: 231,465,611	Intergenic region	46	T: 0.620 (57)	C: 0.380 (35)	T	0.76	0.543	0.471	0.37
rs2275279	1: 231,591,348	TSNAX-DISC1	46	A: 0.663 (61)	T: 0.337 (31)	A	0.69	0.283	0.447	0.02

Abbreviations: SNP single nucleotide polymorphism, H_obs observed heterozygosity, H_exp expected heterozygosity, HWE Hardy-Weinberg equilibrium, NA not available
^aPosition in NCBI build GRCh38
^bValues indicate allele frequencies, and the observed numbers are indicated in parentheses
^cThe allele whose frequency was high in African populations was defined as the ancestral allele, according to allele frequency data obtained through the Ensembl genome browser (http://www.ensembl.org, [23])
^dAllele frequencies are high in highlander populations [3, 13, 14]
^eStatistically significant P values (P < 0.05, by Fisher’s exact test) are shown in italics
^fAmino acid substitution

ISSN: 1880-6805