Figure 4. Enrichment of monoallelic P/LP variants in genes with roles in DNA metabolism.

(A) Percentage of live births and pregnancy losses in patients negative for causative biallelic variants. (B) Detailed reproductive history of the 70 patients with RHM shown in A. Each patient is represented by a vertical bar on the x axis, and the number of each type of her pregnancy outcomes on the y axis. Asterisks denote the number of identified P/LP variants in the patient. (C) Proportional contribution of genes to the genetic susceptibility of the 310 analyzed patients. Numbers inside the pie indicate the number of patients with P/LP variants in each gene, and percentages outside the pie indicate the proportion of patients with P/LP variants in a given gene among the 310 patients. (D) Roles and functions of genes with P/LP variants based on GeneCards and PubMed. The numbers of variants in genes with the indicated functions are shown on the right of the bars. (E) The frequencies of P/LP variants in the 3 categories of patients. (F) Panther analysis showing a significant enrichment of monoallelic P/LP variants in the category of DNA metabolism in our patients while proteins from this category accounted for a smaller percentage in our input list. Statistical analysis was performed using 2-tailed Fisher’s exact test in A and χ² test in F. P < 0.05 was considered significant.