. Author manuscript; available in PMC: 2023 Mar 1.

Published in final edited form as: Clin Immunol. 2022 Feb 9;236:108953. doi: 10.1016/j.clim.2022.108953

Table 3.

Genetic contributions in polygenic SLE with considerably high relative risk for the disease compared to most GWAS identified susceptibility loci.

Genetic Factor	Risk	Pathway
X-chromosome copy #	9×	TLR7? CXorf21/TASL? Foxp3? IRAK1/MECP2?, etc.?
C4A/C4B copy number	7×^*	clearance of cellular debris, immune complex formation
NCF1.Arg90His	2–3.5X^**	Netosis? Efferocytosis? TLR signaling? Affinity maturation?
IRF5 putative regulatory variant	2×	Innate/Adaptive Immune TF - Interferon
TREX1 mutation	25×	cytosolic DNA sensor - Interferon

Depending on sex.

^**

Depending on ancestral population.