Table 2.
TGFBI SNPs significantly associated with T1D and T2D phenotypes
| rs Number | Phenotype/study | Position (Build 36) | Position (Build 37) | P-value | MAF | Description |
|---|---|---|---|---|---|---|
| rs76629798 | T1D/WTCCC | 135 423 309 | 135 395 410 | 0.00010619 | 0.0666 | Intronic |
| rs139897010 | T1D/WTCCC | 135 451 470 | 135 423 571 | 0.0000195 | 0.0014 | 24.064 kb 3′ of TGFBI |
| rs181018777 | T1D/WTCCC | 135 460 208 | 135 432 309 | 0.0000209 | 0.0014 | 32.802 kb 3′ of TGFBI in very high LD with rs139897010 |
| rs916950 | Fasting Glucose/MAGIC | 135 366 498 | 135 338 599 | 0.0003104 | 0.2621 | 25.985 kb 5′ of TGFBI |
| rs916950 | Fasting Glucose Adjusted by BMI/MAGIC | 135 366 498 | 135 338 599 | 0.0007926 | 0.2621 | 25.985 kb 5′ of TGFBI |
Five SNPs located within a region from 50 kb upstream to 50 kb downstream of the TGFBI gene showed significant association with T1D or fasting blood glucose (a T2D-related phenotype). There are 42 independent LD blocks within this region, and the calculated Bonferroni-corrected P-value is 0.00119 (0.05/42 = 0.00119). MAF of these SNPs is indicated.