Rare coding variants in RCN3 are associated with blood pressure

BMC Genomics

Table 4 Meta-Analysis p-values of RCN3 in TOPMed Freeze 8 and UK Biobank

		PP		SBP		DBP
	DF	Burden	SKAT	Burden	SKAT	Burden	SKAT
Variant set 1 (coding variants with MAF < 5%)
TOPMed EA + UKB European	4	0.012	0.032	0.001	0.001	3.88 × 10⁻⁶	1.29 × 10⁻⁵
TOPMed AA + UKB African	4	0.010	0.024	4.89 × 10⁻⁴	0.003	3.16 × 10⁻⁵	0.004
TOPMed + UKB	8	1.15 × 10⁻³	0.003	4.49 × 10⁻⁶	3.15 × 10^− 5	2.01 × 10^− 7	5.43 × 10^− 6
Variant set 2 (noncoding variants with MAF < 1%)
TOPMed EA + UKB European	4	0.285	0.002	0.682	5.04 × 10^− 4	0.691	0.022
TOPMed AA + UKB African	4	0.630	0.284	0.469	0.943	0.581	0.154
TOPMed + UKB	8	0.077	9.49 × 10⁻⁴	0.425	0.002	0.930	0.106
Variant set 3 (coding variants with MAF < 5% + noncoding variants with MAF < 1%)
TOPMed EA + UKB European	4	0.267	0.002	0.692	5.08 × 10^− 4	0.614	0.019
TOPMed AA + UKB African	4	0.771	0.136	0.621	0.510	0.357	0.063
TOPMed + UKB	8	0.136	1.12 × 10⁻³	0.644	3.91 × 10⁻⁴	0.845	0.017

Abbreviations: DF degrees of freedom, SBP systolic blood pressure, DBP diastolic blood pressure, PP pulse pressure, AA African Americans, EA European Americans, SKAT Sequence Kernel Association Test
Meta-analysis of TOPMed and UKB were calculated using Fisher’s method with 2 k degrees of freedom, where k = 4 (one TOPMed trans-ancestry analysis and three UKB ancestry-specific analyses for individuals of European, African, and Asian ancestries)
Bolded p-values represent significance after Bonferroni correction for multiple comparisons (547 genes × 2 independent traits × 3 variant sets × 2 statistical tests)

ISSN: 1471-2164