Rare and low-frequency variants associated with T1DM, T2DM and other autoimmune diseases
Disease | Gene/Locus | Method | Reference |
T1DM | IFIH1 | Candidate gene sequencing | 23 |
PTPN22 | Targeted deep sequencing | 22 | |
STK39 LRP1B | Deep imputation of genotyped data | 13 | |
TYK2 RBM17 | Fine mapping of T1DM risk loci | 20 | |
T2DM | CCND2 PAM PDX1 | WGS and imputation | 80 |
Xq23 EHMT2 | Reanalysis of data from GWAS | 81 | |
GLP1R G6PC2 | HumanExome BeadChip | 82 | |
SGSM2 MADD TBC1D30 KANK1 | Analysis of exome array data | 83 | |
PPARG | Targeted gene sequencing | 84 | |
RA | IL2RA IL2RB | Candidate gene sequencing | 85 |
TYK2 | Immunochip | 86 | |
SLE | BLK | Genotyping | 87 |
TREXI | Genotyping | 88 | |
IBD | IL23R | Candidate gene sequencing | 89 |
NOD2 | Candidate gene sequencing | 90 91 | |
PRDM1 | WES | 92 | |
CARD9 RNF186 | Targeted gene sequencing | 93 |
GWAS, genome-wide association study; IBD, inflammatory bowel disease; RA, rheumatoid arthritis; SLE, systemic lupus erythematosus; T1DM, type 1 diabetes mellitus; T2DM, type 2 diabetes mellitus; WES, whole-exome sequencing; WGS, whole-genome sequencing.