Genotyped SNPs | PPARγ rs1801282C > G | PPARγ rs3856806C > T | PPARGC1A rs8192678 C > T | PPARGC1A rs2970847 C > T | PPARGC1B rs7732671 G > C | PPARGC1B rs17572019 G > A |
---|---|---|---|---|---|---|
Chromosome: position | chr3: 12,393,125 | chr3: 12,475,557 | chr4: 23,815,662 | chr4: 23,815,924 | chr5: 149,212,243 | chr5: 149,212,471 |
Function | Missense | Coding-synonymous | Missense | Coding-synonymous | Missense | Missense |
Regulome DB scorea | – | 2b | 6 | – | 5 | 5 |
Clinical significancee | Likely-benign | Benign/likely-benign | – | – | Benign | – |
MAFb for Chinese in database | 0.07 | 0.25 | 0.35 | 0.28 | 0.09 | 0.07 |
MAF in our controls (n = 1476) | 0.05 | 0.22 | 0.44 | 0.22 | 0.06 | 0.06 |
P value for HWEc test in our controls | 0.881 | 0.026 d | 0.954 | 0.492 | 0.497 | 0.139 |
Genotyping method | SNPscan | SNPscan | SNPscan | SNPscan | SNPscan | SNPscan |
% Genotyping value | 99.64% | 99.64% | 99.64% | 99.64% | 99.64% | 99.53% |