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. Author manuscript; available in PMC: 2023 Nov 1.
Published in final edited form as: Hypertension. 2022 Oct 4;79(11):2573–2582. doi: 10.1161/HYPERTENSIONAHA.121.18513

Table 3. Sequence kernel association tests of low frequency and rare ENaC variants with blood pressure measures.

SKAT was performed on variants with a MAF < 0.05 in the genomic regions of SCNN1A, SCNN1B, SCNN1D, and SCNN1G with SBP, DBP, PP, and MAP, separately, and then combined (SCNN1A, SCNN1B and SCNN1G). SKAT was separately performed on rare (MAF < 0.01) and low frequency (0.01 ≤ MAF < 0.05) variants. Significant p values are in bold.

Gene. Chromosome:Start–End Variants with MAF < 0.05 Variants with MAF < 0.01 Variants with 0.01 ≤ MAF < 0.05
Measure n p value n p value n p value
SCNN1A.
12:6346824–6379751
SBP 3,972 0.02 3,859 0.03 113 0.07
DBP 3,972 0.00004 3,859 0.0004 113 0.0007
PP 3,972 0.7 3,859 0.3 113 0.9
MAP 3,972 0.0002 3,859 0.002 113 0.002
SCNN1B.
16:2329812–23381320
SBP 12,334   0.02 11,925 0.04 409 0.04
DBP 12,334   0.002 11,925 0.003 409 0.01
PP 12,334   0.3 11,925 0.3 409 0.04
MAP 12,334   0.003 11,925 0.006 409 0.01
SCNN1D.
1:1280417–1292050
SBP 2,405 0.0008 2,293 0.2 112 0.0005
DBP 2,405 0.002 2,293 0.03 112 0.003
PP 2,405 0.003 2,293 0.04 112 0.005
MAP 2,405 0.0008 2,293 0.1 112 0.0007
SCNN1G.
16:23184696–23216904
SBP 4,093   0.5 4,022 0.3 71 0.6
DBP 4,093   0.2 4,022 0.1 71 0.4
PP 4,093   0.06 4,022 0.1 71 0.09
MAP 4,093   0.5 4,022 0.2 71 0.8
Combined
(SCNN1A, SCNN1B, SCNN1G)
SBP 20,399 0.01 19,806 0.02 593 0.03
DBP 20,399 0.0002 19,806 0.0004 593 0.004
PP 20,399 0.3 19,806 0.1 593 0.4
MAP 20,399 0.0006 19,806 0.001 593 0.005
Combined
(SCNN1A, SCNN1B, SCNN1D, SCNN1G)
SBP 22,099   0.01 705   0.006
DBP 22,099 0.0002 705   0.001
PP 22,099   0.08 705    0.14
MAP 22,099 0.0009 705   0.001
*

p values < 0.00625 are significant