Table 4.
Proposed genetic factors involved in the etiology of PBC and SS. Data are gathered from HLA studies and genome-wide association studies (GWAS) along with the more recent epigenetic data.
PBC | SS | |
---|---|---|
HLA | DR3, DR8, and DR4 in white, DR2 and DR3 in Japanese, DQA1*0102, and DQ/β1*0402 | DR2, DR3 |
GWAS | DQB1, IL12A, IL12RB2, STAT4, IRF5, IKZF3/ORMDL3, SPIB | STAT4, IRF5 |
Epigenetics | different methylation in hemidesmosome gene; disease-specific miRNAs in minor salivary glands | different methylation at X-linked promoters |