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J Pediatr. 2018 Mar;194:40-46.e4. doi: 10.1016/j.jpeds.2017.10.052. Epub 2017 Dec 14.

Divergent Patterns of Mitochondrial and Nuclear Ancestry Are Associated with the Risk for Preterm Birth.

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Department of Genetics, The University of Pennsylvania, Philadelphia, PA; Department of Biology, The University of Pennsylvania, Philadelphia, PA.
Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada.
Department of Pediatrics, Stanford University, Palo Alto, CA.
Department of Pediatrics, University of California San Francisco, San Francisco, CA.
Department of Genetics, The University of Pennsylvania, Philadelphia, PA; Department of Pediatrics, The University of Toronto, Toronto, Ontario, Canada. Electronic address:



To examine linkages between mitochondrial genetics and preterm birth by assessing the risk for preterm birth associated with the inheritance of nuclear haplotypes that are ancestrally distinct from mitochondrial haplogroup.


Genome-wide genotyping studies of cohorts of preterm and term individuals were evaluated. We determined the mitochondrial haplogroup and nuclear ancestry for individuals and developed a scoring for the degree to which mitochondrial ancestry is divergent from nuclear ancestry.


Infants with higher degrees of divergent mitochondrial ancestry were at increased risk for preterm birth (0.124 for preterm vs 0.105 for term infants; P< .05). This finding was validated in 1 of 2 replication cohorts. We also observed that greater degrees of divergent ancestry correlated with earlier delivery within the primary study population, but this finding was not replicated in secondary cohorts born preterm.


Individuals with divergent patterns of mitochondrial and nuclear ancestry are at increased risk for preterm birth. These findings may in part explain the higher rates of preterm birth in African Americans and in individuals with a matrilineal family history of preterm birth.


admixture; ancestry; genetic risk prediction; prematurity

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