Table 1.
Sex-specific and pleiotropic effects of the genetic variants at the KLF14 locus with cardiometabolic phenotypes.
| Type 2 Diabetes (5) | BMI (6) | WHR (6) | WHRadjBMI (6) | Waist (7) | Hip (7) | HDL (2) | TG (2) | LDL (2) | ||
|---|---|---|---|---|---|---|---|---|---|---|
| Combined analysis | Effect size | 1.06 (1.05–1.08) | 0.0083 | 0.0062 | 0.0125 | −0.009 | −0.017 | −0.015 | 0.016 | 0.009 |
| P value | 9.9 × 10−18 | 2.7 × 10−7 | 2.1 × 10−4 | 1.8 × 10−13 | 9.0 × 10−3 | 1.6 × 10−6 | 1.2 × 10−15 | 1.1 × 10−6 | 2.0 × 10−2 | |
| N (case/control) | 74,116/823,997 | 806,702 | 697,613 | 694,553 | 230,394 | 211,022 | 99,900 | 96,598 | 95,454 | |
| Female only | Effect size | 1.09 (1.07–1.11) | 0.0093 | 0.02 | 0.0282 | 0.008 | −0.033 | −0.042 | 0.036 | 0.018 |
| P value | 8.9 × 10−16 | 1.8 × 10−5 | 9.7 × 10−19 | 3.6 × 10−35 | 8.0 × 10−2 | 9.9 × 10−14 | 3.5 × 10−11 | 1.0 × 10−8 | 2.0 × 10−3 | |
| N (case/control) | 30,049/434,331 | 434,716 | 381,115 | 379,449 | 126,971 | 117,288 | 62,816 | 59,473 | 61,803 | |
| Male Only | Effect size | 1.04 (1.02–1.06) | 0.0074 | −0.0106 | −0.0081 | 0.009 | 0.003 | −0.034 | 0.013 | 0.01 |
| P value | 1.0 × 10−4 | 1.6 × 10−3 | 2.2 × 10−5 | 1.3 × 10−3 | 4.0 × 10−2 | 0.5 | 9.9 × 10−7 | 4.0 × 10−2 | 0.19 | |
| N (case/control) | 41,842/383,763 | 74,693 | 16,682 | 315,238 | 03,616 | 93,919 | 7,745 | 35,288 | 36,840 |
Effect sizes are with respect to the risk allele (C) of the index SNP, rs4731702. BMI, body mass index; WHR, waist-hip ratio; WHRadjBMI, BMI-adjusted WHR; HDL, high-density lipoprotein; TG, Triglycerides; LDL: low-density lipoprotein. The direction of effect size is presented with respect to the C (risk) allele of the index SNP in the locus (rs4731702). Association statistics for T2D, anthropometric traits, and lipids are from meta-analysis of GWAS from various populations. Summary statistics for rs4731702 across all studies were aggregated using fixed-effects meta-analysis with inverse-variance weighting of log-odds ratios or effect sizes. Effect sizes for T2D are odds ratios. Effect sizes for anthropometric traits and WHRadjBMI represent rank inverse normalization of the residuals after BMI was regressed out from WHR. Effect sizes for HDL, LDL, and fasting glucose are reported in mmol/l and for fasting glucose they are reported in pmol/L. Triglyceride (TG) results are log-transformed values.