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. 2024 Aug;14(8):e1809.
doi: 10.1002/ctm2.1809.

Whole genome doubling in adenomyosis

Xiaopei Chao  1   2   3 , Xiaojing Chen  1   2   3 , Haiqi Su  1   2   3 , Xiao Shang  1   2   3 , Huanwen Wu  4 , Yan You  4 , Siqi Wang  5 , Hui Li  5 , Zhenzhen Li  5 , Lan Zhu  1   2   3 , Jiayan Wu  5   6 , Jinghe Lang  1   2   3 , Lei Li  1   2   3
Affiliations

Whole genome doubling in adenomyosis

Xiaopei Chao et al. Clin Transl Med. 2024 Aug.
No abstract available

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Conflict of interest statement

The authors declare no conflict of interest.

Figures

FIGURE 1
FIGURE 1
Prevalence of whole genome doubling (WGD) and non‐whole genome doubling (nWGD) genomes in adenomyosis, endometriosis and control patients. (A) Numbers and proportions of WGD and nWGD patients. (B) Numbers and proportions of WGD and nWGD samples. (C) Difference between the chromosome ploidy of WGD and nWGD samples. The coefficient of determination using the Wilcoxon rank‐sum test is indicated. (D) Overview of ploidy of WGD and nWGD samples in each autosome. (E) Proportions of the genome subject to loss of heterozygosity (LOH) and haploid LOH in WGD and nWGD samples. The coefficient of determination using the Wilcoxon rank‐sum test is indicated.
FIGURE 2
FIGURE 2
The correlation analysis between whole genome doubling (WGD) and adenomyosis onset. (A) Trend test analysis of the age at disease onset which affected WGD events. (B) The comparison of menarche to adenomyosis onset interval between WGD and non‐whole genome doubling (nWGD) groups with the Kaplan‐Meier method. (C) Receiver operating characteristic curves and associated area under the curve values in adenomyosis patients group. WGD patients (n =  20) were used as the positive label, and nWGD patients (n = 59) were used as the negative label. Three operational points (disease age thresholds) are shown that correspond with three different specificity regimes.
FIGURE 3
FIGURE 3
Number and allele frequency of single‐nucleotide variations (SNVs) and copy number variations (CNVs) detected in normal endometrium, endometrium of adenomyosis patients, endometrium of endometriosis patients, adenomyosis and endometriosis samples. (A) The SNVs landscape was identified by WES and RNA‐seq methods, and the copy number heterogeneity was identified by WES. SNV driver genes are in red font, and CNV differential genes between whole genome doubling (WGD) and non‐whole genome doubling (nWGD) samples are in purple font. (B) CNV amplifications (red) and deletion (blue) and the variant allele frequency (VAF) of SNVs (red dot) were exhibited from three adenomyosis patients. (a) CNV mutations detected in endometrium samples; (b) CNV mutations detected in adenomyosis samples; (c) The VAF of SNVs detected in endometrium samples. (d) The VAF of SNVs detected in adenomyosis samples.
FIGURE 4
FIGURE 4
The correlation analysis of KRAS and PIK3CA mutations with age at disease onset. (A) Trend test analysis of the age at disease onset with KRAS (left) and PIK3CA (right) mutations. (B) The comparison of menarche to adenomyosis onset interval between mutation and wild type groups (KRAS in left and PIK3CA in right) with the Kaplan‐Meier method.
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References

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