Journal article
Structural and genomic variation in preterm birth
Pediatric research, Vol.80(6), pp.829-836
12/2016
DOI: 10.1038/pr.2016.152
PMCID: PMC5112111
PMID: 27466897
Abstract
Runs of homozygosity (ROH) are consecutive homozygous genotypes, which may result from population inbreeding or consanguineous marriages. ROH enhance the expression of recessive traits.
We mapped ROH in a case control study of women delivering at term compared with women delivering at or before 34 wk gestation. Gene sets known to be important in risk of preterm birth were examined for their overlap with identified ROH segments.
While we found no evidence of increased burden of ROH or copy number variations in mothers delivering at or before 34 wk compared with term, we identified 424 genome-wide 50 kb segments with significant difference in abundance of overlapping ROH segments in cases vs. controls, P < 0.05. These regions overlap 199 known genes. We found preterm birth associated genes (CXCR4, MYLK, PAK1) and genes shown to have an evolutionary link to preterm (CXCR4, PPP3CB, C6orf57, DUSP13, and SLC25A45) with significant differences in abundance of overlapping ROH blocks in cases vs. controls, P < 0.001.
We conclude, while we found no significant burden of ROH, we did identify genomic regions with significantly greater abundance of ROH blocks in women delivering preterm that overlapped genes known to be involved in preterm birth.
Details
- Title: Subtitle
- Structural and genomic variation in preterm birth
- Creators
- Alper Uzun - Brown Alpert Medical School, Providence, Rhode IslandYavuz Sahin - Department of Medical Genetics, Necip Fazil City Hospital, Kahramanmaras, TurkeyJessica S Schuster - Department of Pediatrics, Women & Infants Hospital of Rhode Island, Providence, Rhode IslandXiaojing Zheng - University of PittsburghKelli Ryckman - Department of Pediatrics, Carver School of Medicine, University of Iowa, Iowa City, IowaEleanor Feingold - Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, PennsylvaniaJames Padbury - Center for Computational Molecular Biology, Brown University, Providence, Rhode Island
- Resource Type
- Journal article
- Publication Details
- Pediatric research, Vol.80(6), pp.829-836
- Publisher
- United States
- DOI
- 10.1038/pr.2016.152
- PMID
- 27466897
- PMCID
- PMC5112111
- ISSN
- 1530-0447
- eISSN
- 1530-0447
- Grant note
- P20 RR018728 / NCRR NIH HHS U19 AI113170 / NIAID NIH HHS P20 GM103537 / NIGMS NIH HHS T35 HL094308 / NHLBI NIH HHS
- Language
- English
- Date published
- 12/2016
- Academic Unit
- Stead Family Department of Pediatrics; Epidemiology
- Record Identifier
- 9983996097402771
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