Table 1.
Rare, nonsynonymous variants in PPARG identified from 19,752 T2D case/controls
| Location on chromosome 3 | Base change | Amino acid change | Ancestral geography | Counts in controls | Counts in T2D cases | Bioinformatic prediction† | OR (95% CI) | P |
| 12458632 | G > T | A417S | European | 0 | 1 | Deleterious | ||
| 12447449 | G > T | D230Y | South Asian | 0 | 1 | Deleterious | ||
| 12447410 | G > A | E217K | Hispanic | 0 | 1 | Deleterious | ||
| 12458359 | G > A | E326K | Hispanic | 0 | 1 | Deleterious | ||
| 12434116 | T > G | F162V | European | 0 | 1 | Deleterious | ||
| 12434114 | G > A | G161D | European | 0 | 2 | Deleterious | ||
| 12434179 | C > T | H183Y | Hispanic | 1 | 0 | Deleterious | ||
| 12434133 | C > G | I167M | European, European American | 1 | 1 | Deleterious | ||
| 12458374 | A > G | I331V | South Asian | 1 | 0 | Deleterious | ||
| 12475511 | A > G | K462R | Hispanic | 0 | 1 | Deleterious | ||
| 12475583 | A > C | K486T | South Asian | 1 | 1 | Deleterious | ||
| 12434164 | C > A | L178I | European | 1 | 5 | Deleterious | ||
| 12458466 | G > C | L361F | European American | 1 | 1 | Deleterious | 2.11 | 0.12 |
| 12475403 | C > T | P426L | European | 0 | 1 | Deleterious | (0.82–5.45) | |
| 12475486 | C > G | P454A | Hispanic | 4 | 2 | Deleterious | ||
| 12422871 | C > T | Q121* | European American | 1 | 0 | Deleterious | ||
| 12422929 | G > A | R140H | Hispanic, African American | 1 | 1 | Deleterious | ||
| 12434126 | G > C | R165T | European | 0 | 2 | Deleterious | ||
| 12447479 | C > T | R240W | South Asian | 1 | 0 | Deleterious | ||
| 12458306 | G > T | R308L | European | 0 | 1 | Deleterious | ||
| 12458516 | G > A | R378K | European | 0 | 1 | Deleterious | ||
| 12475399 | C > T | R425C | European | 0 | 1 | Deleterious | ||
| 12422908 | C > A | S133Y | European | 0 | 1 | Deleterious | ||
| 12447507 | C > G | S249* | European | 0 | 1 | Deleterious | ||
| 12458613 | C > A | S410R | Hispanic | 1 | 0 | Deleterious | ||
| 12421260 | C > G | S47C | East Asian | 0 | 1 | Deleterious | ||
| 12458335 | G > A | V318M | European | 0 | 1 | Deleterious | ||
| 12447537 | C > T | A259V | European American | 1 | 0 | Benign | ||
| 12458594 | C > T | A404V | Hispanic | 0 | 1 | Benign | ||
| 12475457 | C > T | A444V | European American | 1 | 0 | Benign | ||
| 12421391 | G > A | A91T | African American | 3 | 0 | Benign | ||
| 12447572 | G > A | D271N | European | 0 | 1 | Benign | ||
| 12421266 | A > C | D49A | Hispanic | 1 | 0 | Benign | ||
| 12421267 | T > G | D49E | African American | 2 | 2 | Benign | ||
| 12475490 | A > G | E455G | European American | 1 | 0 | Benign | ||
| 12421355 | G > A | E79K | European, East Asian | 1 | 4 | Benign | ||
| 12393119 | A > G | I10V | South Asian | 1 | 1 | Benign | ||
| 12434131 | A > G | I167V | European | 0 | 1 | Benign | ||
| 12447512 | A > G | I251V | Hispanic | 0 | 1 | Benign | ||
| 12421253 | A > T | I45F | African American | 3 | 0 | Benign | ||
| 12458511 | G > A | M376I | European | 0 | 2 | Benign | ||
| 12421279 | G > A | M53I | South Asian | 1 | 0 | Benign | ||
| 12422880 | A > G | N124D | South Asian | 1 | 0 | Benign | ||
| 12475424 | C > T | P433L | Hispanic, European | 0 | 2 | Benign | ||
| 12458611 | A > T | S410C | European | 0 | 1 | Benign | ||
| 12421343 | A > C | T75P | Hispanic | 1 | 3 | Benign | ||
| 12458209 | G > A | V276I | European, Hispanic, African American, East Asian | 5 | 6 | Benign | ||
| 12458386 | G > C | V335L | African American, Hispanic | 11 | 9 | Benign | ||
| 12421262 | G > A | V48M | European American | 1 | 0 | Benign | ||
| 12421274 | G > A | V52I | African American, East Asian, European | 3 | 2 | Benign | ||
| 12422856 | T > G | Y116D | South Asian | 1 | 0 | Benign | ||
| 12458216 | A > G | Y278C | European | 0 | 1 | Benign |
The variant position is based on human genome build NCBI36/hg18, and the amino acid position is based on the NCBI protein reference sequence NP_005028.4. Release notes for this genome build are available at www.ncbi.nlm.nih.gov/genome/guide/human/release_notes.html#b36. CI, confidence interval.
*
Stop codon.