No observed association for mitochondrial SNPs with preterm delivery and related outcomes

Brandon W. Alleman, Solveig Myking, Kelli K. Ryckman, Ronny Myhre, Eleanor Feingold, Bjarke Feenstra, Frank Geller, Heather A. Boyd, John R. Shaffer, Qi Zhang, Ferdouse Begum, David Crosslin, Kim Doheny, Elizabeth Pugh, Aase Serine Devold Pay, Ingrid H.G. Ostensen, Nils Halvdan Morken, Per Magnus, Mary L. Marazita, Bo JacobssonMads Melbye, Jeffrey C. Murray

Research output: Contribution to journalArticlepeer-review

20 Scopus citations


Background:Preterm delivery (PTD) is the leading cause of neonatal morbidity and mortality. Epidemiologic studies indicate recurrence of PTD is maternally inherited, creating a strong possibility that mitochondrial variants contribute to its etiology. This study examines the association between mitochondrial genotypes and PTD and related outcomes.Methods:This study combined, through meta-analysis, two case-control, genome-wide association studies: one from the Danish National Birth Cohort Study and one from the Norwegian Mother and Child Cohort Study (MoBa) conducted by the Norwegian Institute of Public Health. The outcomes of PTD (≤36 wk), very PTD (≤32 wk), and preterm prelabor rupture of membranes (PPROM) were examined. A total of 135 individual single-nucleotide polymorphism (SNP) associations were tested using the combined genome from mothers and neonates (case vs. control) in each population and then pooled via meta-analysis.Results:After meta-analysis, there were four SNPs for the outcome of PTD below P ≤ 0.10 and two below P ≤ 0.05. For the additional outcomes of very PTD and PPROM, there were three and four SNPs, respectively, below P ≤ 0.10.Conclusion:Given the number of tests, no single SNP reached study-wide significance (P = 0.0006). Our study does not support the hypothesis that mitochondrial genetics contributes to the maternal transmission of PTD and related outcomes.

Original languageEnglish (US)
Pages (from-to)539-544
Number of pages6
JournalPediatric research
Issue number5
StatePublished - Nov 2012

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health


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