Table 2. Genome-wide significant sliding windows identified by various tests in the UK10K TWINSUK cohort and replication in the ALSPAC cohort of UK10K.
Trait | Chr | Start position- Stop position (bp) | Gene(s) | cMAF | # SNVs | p-Values | |||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Globally weighted | Not globally weighted | aSPU _minP |
aSPUw _minP |
aSPU | FST (combined) |
SKAT | T5 | ||||||||
wtFun-SPU | wtFun -SPUw | Fun-SPU | Fun-SPUw | ||||||||||||
HDL | 1 | 39,070,016–39,080,016 | Intergenic | 0.14/0.33 | 39/38 | 4.3e-2 | 2.3e-3 | 3.3e-2 | <1e-8 | 2.0e-2 | 3.2e-6 | 3.6e-2 | 1.2e-3 | 5.2e-2 | 2.0e-4 |
HDL | 2 | 173,903,159–173,913,159 | RAPGEF4 | 0.084/0.21 | 33/31 | <1e-8 | <1e-8 | 2.4e-6 | <1e-8 | 4.9e-6 | 8.9e-6 | 2.4e-5 | 2.5e-6 | 1.1e-6 | 1.2e-4 |
HDL | 3 | 63,804,000–63,814,000 | C3orf49 | 0.02/0.17 | 37/36 | 2.9e-3 | <1e-8 | 4.0e-2 | 1.8e-5 | 3.1e-2 | 4.5e-5 | 0.12 | 3.2e-3 | 1.6e-2 | 5.2e-2 |
HDL | 5 | 6,548,648–6,558,648 | Intergenic | 0.001/0.32 | 59/59 | 0.13 | <1e-8 | 0.18 | <1e-8 | 6.2e-2/ <1e-4 | 0.15 | 2.0e-5 | 2.1e-3 | 0.19 | |
HDL | 5 | 6,557,398–6,567,398 | Intergenic | 0.34/0.26 | 48/43 | 4.3e-2 | 1.5e-2 | 0.13 | <1e-8 | 9.5e-3 | <1e-8/ | 0.24 | 1.2e-8 | 1.8e-2 | 0.81 |
LDL | 3 | 102,287,400–102,297,400 | Intergenic | 0.25/0.19 | 56/39 | 4.4e-5 | 9.9e-3 | <1e-8 | 3.6e-2 | 9.0e-6 | 1.3e-2 | 8.1e-6 | 1.3e-4 | 2.5e-5 | 4.5e-3 |
LDL | 3 | 102,427,400–102,437,400 | Intergenic | 0.16/0.27 | 32/40 | <1e-8 | 5e-8 | <1e-8 | 1.3e-3 | 1.2e-6/ <1e-4 | 5.1e-5 | 2.5e-4 | 3.3e-7 | 1.3e-4 | 0.68 |
LDL | 5 | 43,259,958–43,269,958 | NIM1K | 0.43/0.29 | 41/46 | 9e-8 | <1e-8 | 6.5e-7 | 3.0e-7 | 1.7e-5/ <1e-4 | 8.2e-6 | 2.5e-5 | 1.5e-5 | 2.4e-3 | 4.4e-6 |
LDL | 12 | 13,771,517–13,781,517 | GRIN2B | 0.18/0.23 | 43/48 | 3.5e-3 | 5.8e-4 | 0.80 | 3.5e-5 | 5.9e-6 | 1.7e-6 | 0.60 | 2.4e-11 | 0.23 | 0.96 |
LDL | 12 | 13,780,267–13,790,267 | GRIN2B | 0.26/0.27 | 45/43 | 6.0e-2 | 8.0e-4 | 0.47 | 1.3e-4 | 1.0e-6 | 1.7e-6 | 0.33 | 2.0e-11 | 4.9e-2 | 0.53 |
LDL | 19 | 45,387,096–45,397,096 | PVRL2/ TOMM40 | 0.21/ 0.22 | 33/ 37 | 5.4e-2/ 1.8e-3 | 0.10 | 3.5e-7/ <1e-4 | 5.0e-3/ 1.6e-3 | 2.1e-7/ <1e-4 | 4.5e-3 | 2.4e-4 | 2.4e-4/ 7.9e-6 | 0.25 | |
LDL | 19 | 45,395,846–45,405,846 | TOMM40 | 0.42/0.59 | 65/62 | 8.6e-3/ <1e-4 | 8.6e-2 | 1.4e-4/ 1.9e-3 | 5.8e-5/ <1e-4 | 5.0e-7 | 1.2e-4/ 1.0e-10 | 4.7e-4/ 1.1e-6 | 0.28 | ||
LDL | 19 | 45,439,596–45,449,596 | APOC4-APOC2 | 0.37/0.18 | 25/25 | 1.1e-4 | 1.2e-6/ <1e-4 | 6.9e-4 | 2.1e-5/ <1e-4 | 1.4e-4 | 2.3e-4 | 4.7e-5/ 2.4e-7 | 1.1e-3/ 9.0e-4 | 0.15 | |
BMI | 3 | 35,619,294–35,629,294 | Intergenic | 0.24/0.24 | 39/40 | <1e-8 | 4.2e-5 | 5.0e-5 | 1.1e-4 | 3.9e-5 | 3.6e-5 | 8.0e-5 | 2.9e-6 | 4.4e-5 | 1.5e-5 |
BMI | 4 | 22,825,237–22,835,237 | Intergenic | 0.18/0.24 | 47/48 | 1.3e-3 | 5.2e-5 | 1.8e-3 | 6.0e-5 | 1.6e-4 | 3.4e-4/ <1e-4 | 2.8e-3 | 2.6e-8 | 1.4e-6 | 3.0e-5 |
BMI | 10 | 13,937,041–13,947,041 | FRMD4A | 0.28/0.30 | 49/53 | 8.5e-2 | 2.4e-3 | 0.16 | 1.4e-4 | 5.9e-4 | 2.4e-4 | 0.18 | 1.9e-8 | 0.12 | 7.2e-2 |
BMI | 12 | 26,179,017–26,189,017 | RASSF8 | 0.38/0.40 | 37/37 | 7.5e-2 | 1.2e-4 | 0.12 | 4.4e-4 | 2.1e-4 | 3.5e-4/ <1e-4 | 0.12 | 7.5e-8 | 6.6e-2 | 2.1e-4 |
BMI | 15 | 42,935,528–42,945,528 | STARD9 | 0.28/0.23 | 43/56 | <1e-8 | 2.7e-6 | <1e-8 | 1.2e-5 | 2.1e-6 | 4.5e-5 | 1.2e-6 | 4.8e-7 | 8.4e-8 | 1.1e-7 |
BMI | 16 | 60,159,304–60,169,304 | Intergenic | 0.27/0.12 | 29/28 | 4.3e-4 | <1e-8 | 2.5e-2 | 2.1e-4 | 6.1e-4/ <1e-4 | 6.4e-6/ <1e-4 | 5.1e-3 | 1.4e-5 | 0.15 | 3.0e-4 |
BMI | 21 | 40,851,354–40,861,354 | SH3BGR | 0.26/0.17 | 32/26 | 4.4e-4 | <1e-8 | 2.5e-3 | 1.1e-4 | 1.3e-3 | 6.7e-5 /2.6e-3 | 1.2e-3 | 3.9e-4 | 1.5e-2 | 3.4e-4 |
SBP | 4 | 118,855,917–118,865,917 | Intergenic | 0.36/0.16 | 32/27 | 5.5e-2 | <1e-8 | 0.68 | 8.1e-5 | 5.2e-2 | 4.2e-5/ <1e-4 | 0.75 | 2.5e-2 | 0.39 | 0.34 |
SBP | 6 | 42,558,580–42,568,580 | UBR2 | 0.96/0.095 | 28/22 | <1e-8 | 1.3e-4 | 3.4e-4 | 5.6e-4 | 1.1e-6 | 1.6e-4 | 3.9e-4 | 1.7e-6 | 2.7e-3 | 7.8e-5 |
SBP | 6 | 121,241,282–121,251,282 | Intergenic | 0.50/0.23 | 53/46 | <1e-8 | 1.8e-4 | 1.2e-4 | 1.4e-3 | 1.6e-4 | 2.1e-3/ <1e-4 | 5.5e-4 | 3.0e-4 | 1.1e-4 | 7.0e-4 |
SBP | 11 | 38,236,659–38,246,659 | Intergenic | 0.60/0.48 | 61/61 | <1e-8 | 1.4e-4 | 8.6e-5 | 6.4e-6 | 2.1e-5 | 1.9e-4 | 3.8e-3 | 4.4e-6 | 8.5e-3 | 0.36 |
Significance threshold: p<1.56×10−7 for TWINSUK and p<2×10−3 for ALSPAC