Table 1 Results of discovery, replication and validation for the HIGH and LOW/MID phenotypes.
From: Genome-wide association meta-analysis identifies five novel loci for age-related hearing impairment
Gene | SNP | chr | pos | EA | EAF | Discovery (n = 9,675) | Replication | Validation | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
HIGH | LOW/MID | European ancestry only | All ancestries | UK Biobank (n = 356,141) | |||||||||||||||||
beta | dir | P | beta | dir | P | beta | P | dir | N | beta | P | dir | N | beta | P | ||||||
IPP | rs61784824 | 1 | 46211347 | A | 0.71 | −0.083 | −−−−−− | 5.59E-07 | −0.049 | −−−−−− | 1.94E-03 | −0.089 | 0.011 | ?− | 2,122 | −0.018 | 0.244 | ?−+− | 9,749 | −0.032 | 4.05E-08 * |
CTH | rs61776709 | 1 | 70994590 | A | 0.87 | −0.083 | −−−−−− | 1.70E-04 | −0.110 | −−−−−− | 1.51E-07 | 0.087 | 0.052 | ?++ | 2,158 | 0.012 | 0.520 | ?+++− | 9,794 | −0.007 | 4.00E-01 |
SPTBN1 | rs6740893 | 2 | 54834380 | A | 0.23 | 0.062 | ++++++ | 3.39E-04 | 0.091 | ++++++ | 3.22E-08 * | 0.002 | 0.954 | −+ | 3,319 | −0.019 | 0.221 | −+− | 10,955 | 0.029 | 3.09E-06 * |
ILDR1 | rs2332035 | 3 | 121715432 | T | 0.29 | 0.100 | ++++++ | 7.83E-10 * | 0.070 | ++++++ | 4.77E-06 | 0.015 | 0.600 | +++ | 3,283 | −0.008 | 0.594 | ++++− | 10,91 | 0.032 | 1.47E-07 * |
TRIL | rs12112406 | 7 | 28937083 | A | 0.26 | 0.091 | ++++++ | 3.88E-07 | 0.059 | ++++++ | 4.99E-04 | 0.061 | 0.032 | +++ | 3,283 | −0.011 | 0.512 | +++− | 10,91 | 0.024 | 7.21E-05 * |
RP11-32K4.1 | rs9298078 | 8 | 64906619 | T | 0.05 | 0.144 | ++++++ | 2.99E-05 | 0.181 | +−++++ | 3.36E-08 * | −0.011 | 0.867 | +−+ | 3,319 | −0.044 | 0.092 | +−++− | 10,955 | −0.002 | 8.61E-01 |
DOCK9 | rs1289319 | 13 | 99457063 | T | 0.60 | −0.075 | −−−−−− | 4.84E-07 | −0.048 | −+−+− | 7.68E-04 | −0.001 | 0.974 | +−+ | 3,283 | −0.008 | 0.567 | +−++− | 10,91 | 0.001 | 8.59E-01 |
ISG20 | rs56203268 | 15 | 89265679 | T | 0.83 | 0.086 | ++++++ | 2.51E-04 | 0.114 | ++++++ | 2.57E-07 | −0.090 | 0.034 | ?− | 2,158 | 0.005 | 0.808 | ?−+ | 9,794 | 0.037 | 1.91E-07 * |
SPIRE2 | rs6500458 | 16 | 89907205 | A | 0.42 | −0.085 | −+−-−− | 3.12E-07 | −0.036 | −+−+− | 2.21E-02 | −0.067 | 0.011 | − | 3,283 | −0.046 | 0.002 * | −−−−− | 10,91 | NA | NA |
FXYD5 | rs10403118 | 19 | 35677210 | A | 0.79 | −0.046 | −−−−+− | 1.83E-02 | −0.092 | −−−−−− | 4.82E-07 | −0.066 | 0.040 | − | 3,319 | −0.052 | 0.007 | −+− | 10,955 | 0.000 | 9.54E-01 |