Fig 1.
Three independent analyses were conducted. SNV, single-nucleotide variant; GVB, gene-wise variant burden; CNV, copy number variation; CNVR, copy number variation region; FDR, false discovery rate.
Fig 2.
Significant genes in gene-wise variant burden (GVB) analysis.
(A) FASTKD1 and (B) HACL1 showed statistically significantly lower GVB in the control group than in the case group (Wilcoxon rank sum test).
Table 1.
Baseline characteristics.
Table 2.
Significant variant in SNV analysis.
Fig 3.
Profiles of genetic variations and ICM-induced HSRs.
Heterozygotes or homozygotes of FASTKD1 and HACL1 variants were mostly distributed in the control group. The deletion of SIRPB1 occurred only in the case group, whereas MUC12 deletion was observed in both groups. 0, 1, 2 in FASTKD1 and HALC1 refer to wild-type, heterozygotes, and homozygotes, respectively.
Fig 4.
RNA expression levels of candidate genes in immune cells in HPA.
(A) FASTKD1 and (B) HACL1 were most expressed in the basophils. (C) SIRPB1 exhibited the highest expression level in the neutrophil. (D) MUC12 was not expressed in all immune cells (nTPM = 0).