Ann Rheum Dis: A meta-analysis of 208,370 East Asians identified 113 susceptible gene constellations for systemic lupus erythematosus

Systemic lupus erythematosus (SLE) is an autoimmune disease associated with nearly 100 susceptible gene constellations.
, however, these gene constellations only partially explain the genetic power of SLE, and its hypothetical causal variants are rarely given priority, which poses a challenge in clarifying the causes of SLE.
to discover new SLE gene constellations and causal variants, the study conducted the largest genome-wide meta-analysis to date in the East Asian population.
study genetically typed 10,029 SLE patients and 180,167 controls, followed by a meta-analysis of 3,348 published SLE patients and 14,826 controls in East Asia.
the Bayesian statistical method to locate the hypothetical causal variants associated with SLE.
results are as follows: 113 genetic regions, including 46 new gene constellations, have been identified throughout the genome (p×5×10-8).
condition analysis detected 233 associated signals in these gene constellations, indicating the presence of a wide range of allegen heterogeneity.
detected genome-wide associations on six new misalmed mutations.
beyes fine mapping analysis prioritizes hypothetical causal variants to a small fraction of the 28 associated signals.
study identified 110 causal variants of post-test probability ≥0.1 for 57 SLE bits, of which 10 most likely causal variants (post-test probability ≥0.8) were identified.
chain imbalance score regression found a genetic correlation between SLE and albumin/globulin ratio (rg=-0.242) and non-albumin (rg=0.238).
study identified 113 susceptible gene constellations for systemic lupus erythematosus and showed that large-scale genome-wide meta-analysis plays an important role in new genetic discoveries.
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