Table 3. Results of combined study for Japanese patients with SLE.
rsID | Chr | Position (bp) | Cytoband | Gene | Allele | Stage | No. subjects | Allele 1 freq. | OR (95%CI) | P | eQTLa | ||
1/2 | Case | Control | Case | Control | |||||||||
rs340630 | 4 | 88,177,419 | 4q21 | AFF1 | A/G | GWAS | 891 | 3,383 | 0.56 | 0.51 | 1.22 (1.10–1.36) | 1.5×10−4 | + |
Replication study 1 | 550 | 646 | 0.57 | 0.49 | 1.40 (1.19–1.64) | 4.6×10−5 | |||||||
Replication study 2 | 820 | 27,911 | 0.56 | 0.53 | 1.14 (1.03–1.26) | 0.0094 | |||||||
Combined study | 2,261 | 31,940 | 0.56 | 0.52 | 1.21 (1.14–1.30) | 8.3×10−9 |
Defined using gene expression data measured in lymphoblastoid B cell lines [28].