Table 3.
REGENIE linear regression for UKBB only.
| Gene | GeneDescription | MASK | A1FREQ | BETA | SE | CHISQ | p-value |
|---|---|---|---|---|---|---|---|
| BSN | bassoon presynaptic cytomatrix protein | LoF+Drevel > =0.75 | 9.34E-05 | 6.21 | 0.89 | 48.29 | 3.60E-12 |
| MC4R | melanocortin 4 receptor | LoF+Drevel > =0.25 | 1.47E-03 | 1.40 | 0.23 | 38.66 | 5.00E-10 |
| PCSK1 | proprotein convertase subtilisin/kexin type 1 | LoF+Drevel > =0.75 | 9.34E-04 | 1.42 | 0.28 | 25.17 | 5.20E-07 |
| PHF3 | PHD finger protein 3 | LoF+Drevel > =0.75 | 1.56E-04 | 3.26 | 0.69 | 22.18 | 2.48E-06 |
| ALOX5 | arachidonate 5-lipoxygenase | Drevel > =0.5 | 1.56E-03 | 1.00 | 0.22 | 20.95 | 4.71E-06 |
| NCR2 | natural cytotoxicity triggering receptor 2 | Drevel > =0.25 | 7.96E-05 | 4.29 | 0.97 | 19.63 | 9.41E-06 |
UKBB REGENIE linear regression result.
The BMI association results for UKBB cohort using REGENIE. Drevel refers to likely damaging missense variants with REVEL-predicted score about a certain threshold. Genes with p value < e-5 are listed with the smallest p value for each gene listed. The p value significance threshold after Bonferroni correction was 3.57e-7. BSN was a novel gene that reached genome wide significance. MC4R and PCSK1 are known obesity risk genes.