Table 2. Linear regression analysis for the THR.
Variant | Gene (Allele, Chr) | Subjects | MAF | Stage 1 | Stage 2 | Combined | |||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|
n | Effect size (SE) | P | Psex | n | Effect size (SE) | P | Psex | Effect size (SE) | P | ||||
rs11066280 | HECTD4 (T>A, 12) | All | 0.17 | 4988 | −0.006521 (0.001328) | 9.36×10−7 | 0.0870 | 2229 | −0.003232 (0.002354) | 0.170 | 0.122 | −0.005447 (0.001543) | 4.17×10−4 |
Male | 0.18 | 2388 | −0.008465 (0.001627) | 1.80×10−7 | - | 758 | −0.009476 (0.003737) | 1.14×10−2 | - | −0.008624 (0.001484) | 6.19×10−9 | ||
Female | 0.17 | 2600 | −0.004384 (0.002031) | 3.10×10−2 | - | 1471 | 0.0004263 (0.002982) | 0.886 | - | −0.002474 (0.002354) | 0.293 | ||
rs2074356 | HECTD4 (C>T, 12) | All | 0.16 | 4987 | −0.006700 (0.001403) | 1.84×10−6 | 0.139 | 2236 | −0.002208 (0.002326) | 0.343 | 0.045 | −0.004840 (0.002212) | 2.86×10−2 |
Male | 0.16 | 2387 | −0.008663 (0.001728) | 5.76×10−7 | - | 763 | −0.009193 (0.003607) | 1.10×10−2 | - | −0.008762 (0.001558) | 1.89×10−8 | ||
Female | 0.16 | 2600 | −0.004808 (0.002123) | 2.37×10−2 | - | 1473 | 0.002668 (0.002989) | 0.372 | - | −0.001366 (0.003726) | 0.714 | ||
rs12229654 | CCDC63 (T>G, 12) | All | 0.14 | 4987 | −0.006750 (0.001440) | 2.85×10−6 | 0.992 | 2229 | −0.003153 (0.002538) | 0.214 | 0.376 | −0.005558 (0.001694) | 1.04×10−3 |
Male | 0.14 | 2387 | −0.006703 (0.001775) | 1.63×10−4 | - | 759 | −0.003610 (0.004231) | 0.394 | - | −0.006240 (0.001637) | 1.38×10−4 | ||
Female | 0.14 | 2600 | −0.006724 (0.002182) | 2.08×10−3 | - | 1470 | −0.002701 (0.003139) | 0.390 | - | −0.005345 (0.001909) | 5.12×10−3 | ||
rs11201882 | GRID1 (C>T, 10) | All | 0.48 | 4987 | −0.004619 (0.001010) | 4.89×10−6 | 0.301 | 2221 | 0.002075 (0.001796) | 0.248 | 0.660 | −0.001435 (0.003345) | 0.668 |
Male | 0.48 | 2387 | −0.003495 (0.001249) | 5.19×10−3 | - | 759 | 0.001952 (0.002927) | 0.505 | - | −0.001415 (0.002646) | 0.593 | ||
Female | 0.47 | 2600 | −0.005181 (0.001524) | 6.88×10−4 | - | 1462 | 0.001137 (0.002257) | 0.615 | - | −0.002242 (0.003151) | 0.477 | ||
rs6531296 | RPL31P31 (A>G, 4) | All | 0.28 | 4942 | 0.002250 (0.001114) | 4.34×10−2 | 2.39×10−4 | 2227 | 0.001307 (0.001981) | 0.510 | 0.169 | 0.002024 (0.009709) | 3.71×10−2 |
Male | 0.28 | 2363 | 0.006508 (0.001390) | 3.01×10−6 | - | 758 | 0.004278 (0.003360) | 0.203 | - | 0.006182 (0.001284) | 1.49×10−6 | ||
Female | 0.29 | 2579 | −0.001726 (0.001660) | 0.299 | - | 1469 | 0.0002164 (0.002430) | 0.929 | - | −0.001108 (0.001371) | 0.419 | ||
rs12114850 | KHDRBS3 (C>G, 8) | All | 0.12 | 4988 | −0.005276 (0.001525) | 5.45×10−4 | 6.28×10−6 | 2236 | 0.002934 (0.002727) | 0.282 | 0.171 | −0.001485 (0.004091) | 0.717 |
Male | 0.13 | 2388 | 0.001967 (0.001864) | 0.292 | - | 763 | −0.003070 (0.004412) | 0.487 | - | 0.001036 (0.001956) | 0.596 | ||
Female | 0.13 | 2600 | −0.01206 (0.002321) | 2.17×10−7 | - | 1473 | 0.005619 (0.003423) | 0.101 | - | −0.003399 (0.008838) | 0.701 | ||
rs6852847 | TMEM248P1 (A>T, 4) | All | 0.26 | 4826 | −0.004406 (0.001171) | 1.69×10−4 | 9.82×10−4 | 2212 | 0.001832 (0.002014) | 0.363 | 0.443 | −0.001502 (0.003111) | 0.629 |
Male | 0.26 | 2304 | −0.0007494 (0.001456) | 0.607 | - | 753 | 0.002914 (0.003254) | 0.371 | - | 0.00007338 (0.001421) | 0.959 | ||
Female | 0.26 | 2522 | −0.008553 (0.001755) | 1.17×10−6 | - | 1459 | 0.001295 (0.002530) | 0.609 | - | −0.003798 (0.004921) | 0.440 |
Abbreviations: THR, thoracic-to-hip circumference ratio; Chr, chromosome; MAF, minor allele frequency; SE, standard error; HECTD4, HECT domain containing E3 ubiquitin protein ligase 4; CCDC63, coiled-coil domain containing 63; GRID1, glutamate receptor, ionotropic, delta 1; RPL31P31, ribosomal protein L31 pseudogene 31; KHDRBS3, KH domain containing, RNA binding, signal transduction associated 3; TMEM248P1, transmembrane protein 248 pseudogene 1. Effect size (β) presenting THR changes per minor allele, SE, and p-value (P) were calculated by linear regression analysis with adjustment for age, current diabetes medication status, and/or sex in an additive genetic model: (stage 1) genome-wide association analysis of the KoGES population; (stage 2) confirmatory analysis using the KCMS population. Psex was assessed by introducing an interaction term between sex and variant genotype in the regression analysis.