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Journal article
A Genome-Wide Association Study of Early Spontaneous Preterm Delivery
Genetic epidemiology, v 39(3)
01 Mar 2015
PMID: 25599974
Featured in Collection : UN Sustainable Development Goals @ Drexel
Abstract
Preterm birth is the leading cause of infant morbidity and mortality. Despite extensive research, the genetic contributions to spontaneous preterm birth (SPTB) are not well understood. Term controls were matched with cases by race/ethnicity, maternal age, and parity prior to recruitment. Genotyping was performed using Affymetrix SNP Array 6.0 assays. Statistical analyses utilized PLINK to compare allele occurrence rates between case and control groups, and incorporated quality control and multiple-testing adjustments. We analyzed DNA samples from mother-infant pairs from early SPTB cases (20(0/7)-33(6/7) weeks, 959 women and 979 neonates) and term delivery controls (39(0/7)-41(6/7) weeks, 960 women and 985 neonates). For validation purposes, we included an independent validation cohort consisting of early SPTB cases (293 mothers and 243 infants) and term controls (200 mothers and 149 infants). Clustering analysis revealed no population stratification. Multiple maternal SNPs were identified with association P-values between 10 x 10(-5) and 10 x 10(-6). The most significant maternal SNP was rs17053026 on chromosome 3 with an odds ratio (OR) 0.44 with a P-value of 1.0 x 10(-6). Two neonatal SNPs reached the genome-wide significance threshold, including rs17527054 on chromosome 6p22 with a P-value of 2.7 x 10(-12) and rs3777722 on chromosome 6q27 with a P-value of 1.4 x 10(-10). However, we could not replicate these findings after adjusting for multiple comparisons in a validation cohort. This is the first report of a genome-wide case-control study to identify single nucleotide polymorphisms (SNPs) that correlate with SPTB.
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Details
- Title
- A Genome-Wide Association Study of Early Spontaneous Preterm Delivery
- Creators
- Heping Zhang - Yale UniversityDon A. Baldwin - Pathonomics LLC, Philadelphia, Pennsylvania, United States of AmericaRadek K. Bukowski - The University of Texas Medical Branch at GalvestonSamuel Parry - University of PennsylvaniaYaji Xu - Yale UniversityChi Song - Yale UniversityWilliam W. Andrews - University of Alabama at BirminghamGeorge R. Saade - The University of Texas Medical Branch at GalvestonM. Sean Esplin - University of UtahYoel Sadovsky - Magee-Womens Research InstituteUma M. Reddy - Eunice Kennedy Shriver National Institute of Child Health and Human DevelopmentJohn Ilekis - Eunice Kennedy Shriver National Institute of Child Health and Human DevelopmentMichael Varner - University of UtahJoseph R. Biggio - University of Alabama at BirminghamEunice Kennedy Shriver Natl InstHua Zhang - Electrical and Computer Engineering
- Publication Details
- Genetic epidemiology, v 39(3)
- Publisher
- Wiley
- Number of pages
- 10
- Grant note
- P30ES013508 / NATIONAL INSTITUTE OF ENVIRONMENTAL HEALTH SCIENCES; United States Department of Health & Human Services; National Institutes of Health (NIH) - USA; NIH National Institute of Environmental Health Sciences (NIEHS) U01-HD-050062; U01-HD-050078; U01-HD-050080; U01-HD-050088; U01-HD-050094 / Eunice Kennedy Shriver National Institute of Child Health and Human Development Genomic and Proteomic Network for Preterm Birth Research UL1TR001417 / NATIONAL CENTER FOR ADVANCING TRANSLATIONAL SCIENCES; United States Department of Health & Human Services; National Institutes of Health (NIH) - USA; NIH National Center for Advancing Translational Sciences (NCATS) R01DA016750 / NATIONAL INSTITUTE ON DRUG ABUSE; United States Department of Health & Human Services; National Institutes of Health (NIH) - USA; NIH National Institute on Drug Abuse (NIDA); European Commission U01HD050078 / EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH &HUMAN DEVELOPMENT; United States Department of Health & Human Services; National Institutes of Health (NIH) - USA; NIH Eunice Kennedy Shriver National Institute of Child Health & Human Development (NICHD) UL1RR025777 / NATIONAL CENTER FOR RESEARCH RESOURCES; United States Department of Health & Human Services; National Institutes of Health (NIH) - USA; NIH National Center for Research Resources (NCRR) U01HD050088 / EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH & HUMAN DEVELOPMENT; United States Department of Health & Human Services; National Institutes of Health (NIH) - USA; NIH Eunice Kennedy Shriver National Institute of Child Health & Human Development (NICHD)
- Resource Type
- Journal article
- Language
- English
- Academic Unit
- Electrical and Computer Engineering
- Web of Science ID
- WOS:000351462200009
- Scopus ID
- 2-s2.0-84925131291
- Other Identifier
- 991019173532404721
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- Collaboration types
- Domestic collaboration
- Web of Science research areas
- Genetics & Heredity
- Mathematical & Computational Biology