Table 2

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
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.