Table 2.
Studies investigating rare variants in SpA.
| Study | Year | Design | Ethnicity | Sample size | Gene |
|---|---|---|---|---|---|
| CASE-CONTROL | |||||
| Robinson et al.(42) | 2016 | Whole-genome genotyping | Caucasian | 5,040 AS/21,133 controls | CDKAL1 |
| FAMILY-BASED | |||||
| Uddin et al. (43) | 2013 | Whole-genome CNV | Caucasian | 1 family | UGT2B17 |
| O'Rielly et al. (44) | 2015 | Whole-exome sequencing | Caucasian | 1 family | SEC16A/MAMDC4 |
| Rong et al. (45) | 2015 | Targeted sequencing | Chinese Han | 1 family | IRS1 |
| Tan et al. (46) | 2018 | Whole-genome linkage + exome sequencing | Chinese Han | 1 family | ANKDD1B |
| Feng et al. (47) | 2018 | Whole-genome linkage + exome sequencing | Chinese Han | 1 family | TREML2 |