Table 2.
Rare-variant Association Analysis.
| GENE | NMK | Enrichment test | SKAT | ||
|---|---|---|---|---|---|
| Variants with r² <0.1, MAF <1% - Adjusted by 10 PCs and λGC | |||||
| P | Pmult | P | Pmult | ||
| DCLRE1C | 58 | 3.31E-02 | 6.51E-02 | 5.50E-01 | 6.54E-01 |
| EMC10 | 41 | 1.06E-02 | 2.47E-02 | 2.14E-02 | 3.67E-02 |
| FAM71E1 | 19 | 5.23E-03 | 2.97E-02 | 3.13E-02 | 4.63E-02 |
Gene-based case-control association analysis of unlinked rare variants (MAF < 1% and r² < 0.1) of the genes identified by exome sequencing in an independent imputed genome-wide association scan from a set of 4,254 SLE patients and 4,349 controls with European ancestry25. Two procedures were used, an enrichment case-control association test and the sequence kernel association test (SKAT). Correction for multiple testing was run through a bootstrapping permutation process (Pmult). All tests were corrected for stratification by adjusting for the first 10 principal components (PC) and Genomic Inflation Control (λGC).