From: Use of next-generation DNA sequencing to analyze genetic variants in rheumatic disease
Disease | Sequencing application | Platform | Study design | Sample size sequenced | Population | Associated genes | Reference |
---|---|---|---|---|---|---|---|
AS | Targeted | Illumina | Case–control | 50 cases and 50 controls; 846 cases and 1,308 controls | Han Chinese/ European | IL23R | [8] |
BD | Exome | Illumina | Case–control | 766 cases, 768 controls | Japanese; Turkish | IL23R, TLR4, MEFV | [9] |
 | Exome | Illumina | Case–control | 32 cases, 59 controls | Korean | KIR3DL3, MTHFR, MICA, KIR2KL4, FCGR3A, ICAM1, IFNAR1, KIR2DL4 | [10] |
IBD | Exome | Illumina | Case–control | 350 cases, 350 controls | Caucasian | NOD2, IL23R, CARD9, IL18RAP, CUL2, C1orf106, PTPN22, MUC19 | [11] |
 | Sanger | Applied Biosystems | Case–control | 528 cases, 549 controls | Caucasian | TNFRSF6B | [12] |
CU | Whole genome/Sanger | Illumina/Applied Biosystems | Family | 1 case; 27 cases | Caucasian | PLCG2 | [13] |
DDH | Whole exome | Illumina | Family | 4 cases | Caucasian | CX3CR1 | [14] |
FMS | Whole exome | Illumina | Family | 19 cases, 150 trios | Caucasian | ZNF77, KNG1, MMP8, STARD6, C14orf105, FAM81B, C11orf40 | [15] |
Gout | Whole genome | Illumina | Case–control | 457 cases | Caucasian | ALDH16A1 | [16] |
HUVS | Whole exome/targeted exome | Illumina | Family | 1 case; 3 cases, 9 unaffecteds | Caucasian | DNASE1L3 | [17] |
OA | Sanger | Applied Biosystems | Case–control | 992 cases, 944 controls | Caucasian | GDF5 | |
 | Whole genome | Illumina | Case–control | 623 cases, 69,153 controls | Icelandic | ALDH1A2 | [20] |
RA | Targeted | Beckman Coulter | Case–control | 34 cases, 74 controls | Alaska Native | MHC | [21] |
 | Exome | Illumina | Case–control | 500 cases, 650 controls | Caucasian | CD2, IL2RA, IL2RB | [22] |
 | Whole exome | Illumina | Case–control | 19 cases | Japanese | BTNL2 | [23] |
 | Whole exome/ targeted exome | Illumina | Consanguineous family/case–control | 4 cases; 1,088 cases, 1,088 controls | Caucasian | PLB1 | [24] |
SLE | Targeted | Illumina | Case–control | 74 cases, 100 controls | Caucasian | UBE2L3 | [25] |
 | Targeted | Illumina | Case–control | 100 cases, 100 controls | Caucasian | IKBKE, IFIH1 | [26] |
 | Targeted | Illumina | Case–control | 218 cases, 157 controls | Caucasian; African-American; Hispanic | TNIP1 | [27] |
 | Targeted | Illumina | Case–control | 7 cases | Caucasian | TNFAIP3 | [28] |
 | Exome | Sanger | Case–control | 191 cases, 96 controls | Caucasian | FAM167A; BLK | [29] |
 | Whole exome/Sanger | Life Technologies | Family | 1 case; 3 cases, 3 unaffecteds | Caucasian | PRKCD | [30] |
pSS | Targeted | Sanger | Case–control | 19 cases | Caucasian | TNFAIP3 | [31] |