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Table 5 Lead single-variant analysis results

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

Region

Phenotype

Model

SNP

WGS/Chip N

CAF

WGS beta (SE)

WGS P

Chip beta (SE)

Chip P

Combined beta (SE)

Combined P

2q12.1: IL18RAP

Avg desaturation

All

rs77375846 C

4995, 4838

0.028–0.129

−0.152 (0.049)

1.87 × 10−3

−0.264 (0.049)

5.97 × 10−8

−0.208 (0.035)

1.57 × 10−9

2q33.3: PPIAP68

Avg desaturation

All

rs60132122 T

5222, 4838

0.308–0.637

0.062 (0.031)

0.043

0.195 (0.034)

6.26 × 10−9

0.122 (0.023)

6.49 × 10−8

11q12.2: MS4A15

Avg SpO2

All

rs4939452 C

7929, 13197

0.347–0.524

0.066 (0.023)

4.34 × 10−3

0.063 (0.014)

3.29 × 10−6

0.064 (0.012)

4.87 × 10−8

18q12.3: LINC00907

Avg SpO2

All

rs187860354 G

4500, 7391

0.006–0.022

0.442 (0.146)

2.36 × 10−3

0.432 (0.097)

8.53 × 10−6

0.436 (0.081)

7.04 × 10−8

2q12.1: IL18RAP

Min SpO2

All

rs138895820 G

7705, 13194

0.025–0.131

0.510 (0.184)

5.58 × 10−3

0.654 (0.128)

3.36 × 10−7

0.607 (0.105)

7.93 × 10−9

10p12.31: NEBL

Min SpO2

Females

rs11453507 CA

4450, 6202

0.138–0.514

0.651 (0.140)

3.34 × 10−6

0.338 (0.102)

8.63 × 10−4

0.446 (0.082)

5.73 × 10−8

12q21.2: LINC024064

Min SpO2

Females

rs2176909 T

4450, 6202

0.724–0.930

0.828 (0.157)

1.38 × 10−7

0.319 (0.116)

5.77 × 10−3

0.498 (0.093)

9.06 × 10−8

5p13.3: C5orf22

AHI

Males

rs10940956 A

3502, 7043

0.470–0.759

0.930 (0.422)

2.74 × 10−2

1.430 (0.269)

1.09 × 10−7

1.285 (0.227)

1.48 × 10−8

9p22.1: DENND4C

AHI

AA

rs111654000 A

1717, 225

0.016–0.018

−11.240 (2.268)

7.18 × 10−7

−18.110 (6.724)

7.07 × 10−3

−11.942 (2.149)

2.74 × 10−8

1q31.2: AL954650.1

AHI

AA

chr1:191965014_G/A A

1717, 225

0.286–0.301

3.078 (0.641)

1.56 × 10−6

5.080 (1.759)

3.88 × 10−3

3.313 (0.602)

3.75 × 10−8

8p12: AC068672.1, NRG1

AHI

EA

rs35447033 T

3246, 5095

0.060–0.094

2.247 (0.621)

2.95 × 10−4

2.453 (0.521)

2.54 × 10−6

2.368 (0.399)

3.02 × 10−9

5p13.2: SLC45A2

Avg SpO2

EA

rs28777 A

3201, 5024

0.885–0.969

−0.526 (0.133)

8.00 × 10−5

−0.454 (0.096)

2.23 × 10−6

−0.478 (0.078)

8.08 × 10−10

1q32.1: ATP2B4

Avg SpO2

HA

rs116133558 T

2803, 7956

0.006–0.014

0.371 (0.120)

2.08 × 10−3

0.294 (0.062)

2.15 × 10−6

0.310 (0.055)

1.88 × 10−8

1q23.3: intergenic (RNU6-755P)

Min SpO2

HA

rs140743827 A

2803, 7174

0.017–0.020

−1.502 (0.593)

1.13 × 10−2

−1.770 (0.367)

1.42 × 10−6

−1.696 (0.312)

5.51 × 10−8

1q32.1: ATP2B4

Per90

HA

rs116133558 T

2803, 7956

0.006–0.014

−1.005 (0.450)

2.54 × 10−2

−1.218 (0.207)

4.15 × 10−9

−1.181 (0.188)

3.51 × 10−10

11p11.2: intergenic (AC104010.1)

Avg SpO2

HA males

chr11:44652095_TC/T T

1143, 3024

0.007–0.008

0.686 (0.248)

5.65 × 10−3

0.710 (0.154)

3.83 × 10−6

0.703 (0.131)

7.25 × 10−8

10q22.1:HK1

Min SpO2

EA males

rs17476364 C

1523, 3650

0.072–0.115

1.215 (0.392)

1.94 × 10−3

1.099 (0.235)

2.81 × 10−6

1.129 (0.201)

2.01 × 10−8

8q23.2: KCNV1

Min SpO2

EA males

rs58365105 A

1523, 3650

0.007–0.026

−2.878 (0.864)

8.65 × 10−4

−2.406 (0.540)

8.36 × 10−6

−2.539 (0.458)

2.96 × 10−8

2q35: AC019211.1

Per90

EA males

chr2:220369683_G/A A

1540, 187

0.005–0.006

12.280 (2.431)

4.38 × 10−7

17.505 (7.989)

2.85 × 10−2

12.723 (2.326)

4.48 × 10−8

  1. Lead EMMAX single-variant associations within one order of magnitude of significance (combined p < 1.00 × 10−8) and with replication evidence (p < 0.05) are shown. Full results for all variants in each locus with p < 1.00 × 10−7, including additional associations with secondary models, and metadata and annotations, are provided in Additional file 1: Table S7