Whole-genome association analyses of sleep-disordered breathing phenotypes in the NHLBI TOPMed program

Table 3 Lead gene-based multiple-population results

Phenotype	Sex	Gene	B38 positions	P	N	Variants	Population P	Population N	Population variants
Avg desaturation	All	ARMCX3	X:101,623,082–101,625,765	3.48 × 10⁻⁸	5222	41	0.220, 0.179, 2.17 × 10⁻⁶, 8.93 × 10⁻⁴	1545; 227; 2994; 456	8, 5, 24, 9
Avg desaturation	All	ARMCX3-AS1	X:101,623,082–101,625,153	3.49 × 10⁻⁸	5222	38	0.225, 0.179, 2.19 × 10⁻⁶, 8.20 × 10⁻⁴	1545; 227; 2994; 456	7, 5, 23, 8
Per90	All	OR5K2	3:98,497,633–98,498,634	2.55 × 10⁻⁷	7986	7	0.143, 0.440, 4.14 × 10⁻², 2.74 × 10⁻⁷	1712; 229; 3,242; 2803	4, 2, 1, 1
Per90	Females	ZZEF1	17:4,004,409–4,144,018	4.22 × 10⁻⁷	4485	236	0.634, 0.337, 5.03 × 10⁻⁴, 3.05 × 10⁻⁵	1009; 114; 1702; 1660	85, 16, 87, 131

Lead MMSKAT gene-based results meta-analyzed across populations within one order of magnitude of significance (p < 4.51 × 10⁻⁸) are shown. Population-specific information for each gene is displayed in the latter columns for AA, AsA, EA, and HA, respectively. Individual populations varied in the number of polymorphic variants available for testing (e.g., due to singletons or excessively common variants). ARMCX3-AS1 is a RNA gene that is anti-sense to the protein-coding ARMCX3 gene. Full results for genes with p < 0.01, including Ensembl-derived gene biotypes and descriptions, are provided in Additional file 1: Table S4. A list of individual variants comprising each gene is provided in Additional file 1: Table S6

ISSN: 1756-994X