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

Publication ,  Journal Article
Zhao, L; Triche, EW; Walsh, KM; Bracken, MB; Saftlas, AF; Hoh, J; Dewan, AT
Published in: BMC Pregnancy Childbirth
June 29, 2012

BACKGROUND: Specific genetic contributions for preeclampsia (PE) are currently unknown. This genome-wide association study (GWAS) aims to identify maternal single nucleotide polymorphisms (SNPs) and copy-number variants (CNVs) involved in the etiology of PE. METHODS: A genome-wide scan was performed on 177 PE cases (diagnosed according to National Heart, Lung and Blood Institute guidelines) and 116 normotensive controls. White female study subjects from Iowa were genotyped on Affymetrix SNP 6.0 microarrays. CNV calls made using a combination of four detection algorithms (Birdseye, Canary, PennCNV, and QuantiSNP) were merged using CNVision and screened with stringent prioritization criteria. Due to limited DNA quantities and the deleterious nature of copy-number deletions, it was decided a priori that only deletions would be selected for assay on the entire case-control dataset using quantitative real-time PCR. RESULTS: The top four SNP candidates had an allelic or genotypic p-value between 10(-5) and 10(-6), however, none surpassed the Bonferroni-corrected significance threshold. Three recurrent rare deletions meeting prioritization criteria detected in multiple cases were selected for targeted genotyping. A locus of particular interest was found showing an enrichment of case deletions in 19q13.31 (5/169 cases and 1/114 controls), which encompasses the PSG11 gene contiguous to a highly plastic genomic region. All algorithm calls for these regions were assay confirmed. CONCLUSIONS: CNVs may confer risk for PE and represent interesting regions that warrant further investigation. Top SNP candidates identified from the GWAS, although not genome-wide significant, may be useful to inform future studies in PE genetics.

Duke Scholars

Published In

BMC Pregnancy Childbirth

DOI

EISSN

1471-2393

Publication Date

June 29, 2012

Volume

12

Start / End Page

61

Location

England

Related Subject Headings

  • Young Adult
  • Protein Array Analysis
  • Pregnancy-Specific beta 1-Glycoproteins
  • Pregnancy
  • Pre-Eclampsia
  • Polymorphism, Single Nucleotide
  • Phenotype
  • Obstetrics & Reproductive Medicine
  • Humans
  • Genome-Wide Association Study
 

Citation

APA
Chicago
ICMJE
MLA
NLM
Zhao, L., Triche, E. W., Walsh, K. M., Bracken, M. B., Saftlas, A. F., Hoh, J., & Dewan, A. T. (2012). Genome-wide association study identifies a maternal copy-number deletion in PSG11 enriched among preeclampsia patients. BMC Pregnancy Childbirth, 12, 61. https://doi.org/10.1186/1471-2393-12-61
Zhao, Linlu, Elizabeth W. Triche, Kyle M. Walsh, Michael B. Bracken, Audrey F. Saftlas, Josephine Hoh, and Andrew T. Dewan. “Genome-wide association study identifies a maternal copy-number deletion in PSG11 enriched among preeclampsia patients.BMC Pregnancy Childbirth 12 (June 29, 2012): 61. https://doi.org/10.1186/1471-2393-12-61.
Zhao L, Triche EW, Walsh KM, Bracken MB, Saftlas AF, Hoh J, et al. Genome-wide association study identifies a maternal copy-number deletion in PSG11 enriched among preeclampsia patients. BMC Pregnancy Childbirth. 2012 Jun 29;12:61.
Zhao, Linlu, et al. “Genome-wide association study identifies a maternal copy-number deletion in PSG11 enriched among preeclampsia patients.BMC Pregnancy Childbirth, vol. 12, June 2012, p. 61. Pubmed, doi:10.1186/1471-2393-12-61.
Zhao L, Triche EW, Walsh KM, Bracken MB, Saftlas AF, Hoh J, Dewan AT. Genome-wide association study identifies a maternal copy-number deletion in PSG11 enriched among preeclampsia patients. BMC Pregnancy Childbirth. 2012 Jun 29;12:61.
Journal cover image

Published In

BMC Pregnancy Childbirth

DOI

EISSN

1471-2393

Publication Date

June 29, 2012

Volume

12

Start / End Page

61

Location

England

Related Subject Headings

  • Young Adult
  • Protein Array Analysis
  • Pregnancy-Specific beta 1-Glycoproteins
  • Pregnancy
  • Pre-Eclampsia
  • Polymorphism, Single Nucleotide
  • Phenotype
  • Obstetrics & Reproductive Medicine
  • Humans
  • Genome-Wide Association Study