Integrative functional genomics identifies SLE causal genetic variant in the IRF5 risk locus.
Guojun HouTian ZhouNing XuZhihua YinXinyi ZhuYutong ZhangYange CuiJianyang MaYuanjia TangZhaorui ChengYiwei ShenYashuo ChenLing-Hua ZouYong-Fei WangZihang YinYa GuoHuihua DingZhizhong YeNan ShenPublished in: Arthritis & rheumatology (Hoboken, N.J.) (2022)
These results demonstrate that rs4728142-A allele increases the SLE risk by affecting ZBTB3 binding, chromatin status, and regulating IRF5 expression, establishing a biological link between genetic variation and lupus pathogenesis.