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Table 2 Recurrent copy-number deletions identified in PE cases and controls

From: Genome-wide association study identifies a maternal copy-number deletion in PSG11 enriched among preeclampsia patients

CNV regiona

Gene contents

Copy-number frequencyb

Casesc

Controlsc

Population-based controlsd

Chr13:83.004-83.045 Mb

Intergenic

5/169

0/114

6/770

Chr16:14.972-14.987 Mb

PDXDC1

8/169

1/114

14/770

Chr19:48.461-48.476 Mb

PSG11

5/169

1/114

2/770

  1. aMinimum region of overlap across all subjects harboring the deletion.
  2. bCNV frequencies are derived from SNP microarray data.
  3. cAlgorithm detected CNVs were all validated by RT-qPCR with the exception of one case in each of the chromosome 13 and 16 regions due to unavailable DNA. Furthermore, RT-qPCR identified a heterozygous deletion in one case and two control subjects in the chromosome 16 CNV region as well as a case subject in the chromosome 19 region that were called as copy normal by the algorithms.
  4. dWhite female subjects from a GWAS of schizophrenia genotyped using Affymetrix SNP 6.0 microarrays. CNVs were detected using the same algorithms as the PE GWAS. Four population-based controls did not pass sample QC.
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BMC Pregnancy and Childbirth

ISSN: 1471-2393

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