Table I.
Comparison of the CNV characteristics in 101 miscarriages from 4 studies.
| Rare | Common | |
|---|---|---|
| Number of CNVs/CNVRs | 24/24 | 372/119 |
| Median CNV size (Mb) | 0.16 (IQR 0.08–0.51) | 0.14 (IQR 0.08–0.55) |
| Number of genes | 93 | 354 |
| Gene density (No. of genes/Mb) | 56* | 24 |
| GO term enrichment | NS | Immune-response and reproductive-processes* |
| Pathway enrichment# | NS | Immune-response* |
| Genes with phenotypes in MGI§ | 39/93 (42%) | 67/354 (19%) |
| Genes with embryonic lethality phenotype§ | 11/39 (28%) | 15/67 (22%) |
| Genes with reproduction/pregnancy-related abnormalities§ | 8/39 (21%) | 15/67 (22%) |
| Genes expressed in placenta§§ | 3/93 (3%) | 3/354 (1%) |
NS, not significant; IQR, interquartile range.
*P<0.05.
#KEGG pathway-analysis using DAVID web-tool (http://david.abcc.ncifcrf.gov/).
§MGI web-tool (http://www.informatics.jax.org) was used to identify the number of genes with mouse-knock out phenotypes.
§§TiGER (http://bioinfo.wilmer.jhu.edu/tiger/) and TiSGeD (http://bioinf.xmu.edu.cn:8080/databases/TiSGeD/search.php) web-tools were used to identify the number of genes which have an exclusive or high expression in placenta.