Table 1.
Rare and low‐frequency RSPO1 nonsynonymous variants identified in young Chinese with obesity and controls
| Position a) | Nucleotide change b) | AA change b) | Cases (n = 1944) | Lean controls (n = 2161) | ChinaMAP controls (n = 10 588) | Case _freq | Lean Control _freq | ChinaMAP controls _freq | p value c) | OR (95% CI) c) | p value d) | OR (95% CI) d) |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1:38095329 | C > T | R2Q | 2 | 1 | 2 | 0.0005 | 0.0002 | 0.0001 | 0.61 | 2.22 (0.12, 131.20) | 0.12 | 5.45 (0.40, 75.09) |
| 1:38095278 | A > T | I19N | 0 | 2 | 1 | 0 | 0.0005 | 0.0000 | 0.50 | 0.00 (0.00, 5.92) | 1.00 | 0.00 (0.00, 211.71) |
| 1:38095269 | C > T | R22Q | 0 | 1 | 1 | 0 | 0.0002 | 0.0000 | 1.00 | 0.00 (0.00, 43.33) | 1.00 | 0.00 (0.00, 211.71) |
| 1:38095243 | G > A | R31W | 0 | 2 | 4 | 0 | 0.0005 | 0.0002 | 0.50 | 0.00 (0.00, 5.92) | 1.00 | 0.00 (0.00, 8.25) |
| 1:38082222 | C > T | V74I | 1 | 0 | 1 | 0.0003 | 0 | 0.0000 | 0.47 | Inf. (0.03, Inf.) | 0.29 | 5.45 (0.07, 426.22) |
| 1:38082212 | G > A | P77L | 1 | 1 | 7 | 0.0003 | 0.0002 | 0.0003 | 1.00 | 1.11 (0.01, 87.25) | 1.00 | 0.78 (0.02, 6.06) |
| 1:38082174 | C > T | D90N | 1 | 0 | 0 | 0.0003 | 0 | 0 | 0.47 | Inf. (0.03, Inf.) | 0.16 | Inf. (0.14, Inf.) |
| 1:38082163 | C > A | K93N | 1 | 0 | 0 | 0.0003 | 0 | 0 | 0.47 | Inf. (0.03, Inf.) | 0.16 | Inf. (0.14, Inf.) |
| 1:38079564 | G > A | A146V | 0 | 2 | 1 | 0 | 0.0005 | 0.0000 | 0.50 | 0.00 (0.00, 5.92) | 1.00 | 0.00 (0.00, 211.71) |
| 1:38079517 | T > G | K162Q | 115 | 111 | 649 | 0.0298 | 0.0261 | 0.0306 | 0.30 | 1.16 (0.88, 1.53) | 0.76 | 0.96 (0.78, 1.18) |
| 1:38079496 | G > A | R169W | 0 | 1 | 1 | 0 | 0.0002 | 0.0000 | 1.00 | 0.00 (0.00, 43.33) | 1.00 | 0.00 (0.00, 211.71) |
| 1:38078593 | C > T | G209E | 2 | 3 | 10 | 0.0005 | 0.0007 | 0.0005 | 1.00 | 0.74 (0.06, 6.48) | 1.00 | 1.09 (0.12, 5.12) |
| 1:38078590 | T > G | Q210P | 1 | 0 | 0 | 0.0003 | 0 | 0 | 0.47 | Inf. (0.03, Inf.) | 0.16 | Inf. (0.14, Inf.) |
| 1:38078582 | T > A | R213W | 0 | 1 | 0 | 0 | 0.0002 | 0 | 1.00 | Inf. (0.00, 43.33) | ‐ | ‐ |
| 1:38078564 | G > A | R219W | 11 | 3 | 13 | 0.0028 | 0.0007 | 0.0006 | 0.03 | 4.09 (1.08, 22.88) | 4.26 × 10−4 | 4.63 (1.87, 11.22) |
| 1:38078563 | C > T | R219Q | 1 | 0 | 1 | 0.0003 | 0 | 0.0000 | 0.47 | Inf. (0.03, Inf.) | 0.29 | 0.29 (0.07, 426.22) |
| 1:38078510 | C > T | A237T | 0 | 2 | 3 | 0 | 0.0005 | 0.0001 | 0.50 | 0.00 (0.00, 5.92) | 1.00 | 0.00 (0.00, 13.18) |
| 1:38078500 | C > T | R240Q | 1 | 0 | 0 | 0.0003 | 0 | 0 | 0.47 | Inf. (0.03, Inf.) | 0.16 | Inf. (0.14, Inf.) |
a)
NCBI Build 37.
b)
Variations are based on RefSeq records NM_001038633.4 and NP_001033722.1, respectively. Freq, allele frequency.
c)
Cases versus lean controls.
d)
Cases versus ChinaMAP controls. The data of East Asian and all gnomAD samples are from gnomAD v2.1.1 (https://gnomad.broadinstitute.org/gene/). Inf., infinity.