Figure 3.

Tripolar mitosis in diploid embryos drives association with common maternal genetic variants spanning PLK4. (A) For cases with ≥1 diploid tripolar sample, boxplots of proportion of diploid tripolar samples stratified by maternal genotype at rs2305957. The colored boxes extend from the median to the first (Q1) and third (Q3) quartiles. Whiskers extend to 1.5 * interquartile range. Outlier data points beyond this range are plotted individually. Only cases with >2 samples are plotted for clarity. The risk allele (A allele of rs2305957) is associated with increased frequencies of biopsies exhibiting signatures of tripolar mitosis [quasi-binomial GLM: OR = 1.42 (95% CI: 1.29 – 1.57), P = 1.9 × 10⁻¹²]. (B) Proportions of cases per genotype with zero diploid tripolar samples. Error bars indicate ± standard errors of the mean proportions. (C) Mean proportions of putative diploid tripolar samples stratified by age (rounded to nearest two years) and genotype. Ribbons indicate ± standard errors of the mean proportions.