Mitochondrial DNA variant A4917G, smoking and spontaneous preterm birth

Digna R. Velez, Ramkumar Menon, Hyagriv Simhan, Stephen Fortunato, Jeffery A. Canter, Scott M. Williams

Research output: Contribution to journalArticlepeer-review

13 Scopus citations


Spontaneous preterm birth (PTB; <37 weeks gestation) is a major risk factor for neonatal morbidity and mortality. The exact cause of PTB is unknown but oxidative stress may play an important role. Genetic studies have recently begun to elucidate the role of genetic variation in PTB but these studies have overlooked the mitochondrial genome/gene(s) as a plausible PTB candidate. In the present study, we sought to document association between nonsynonymous mitochondrial DNA (mtDNA) variants A4917G, G10398A and T4216C and PTB. We performed a case (PTB; <36 weeks gestation)-control (normal term) analysis of these mtDNA markers and examined their potential interaction with smoking in PTB. A sample of 422 pregnant Caucasian women (220 preterm and 202 terms) was examined for association. Haplogroup T marker A4917G was identified as a possible candidate for association with PTB after adjusting for smoking (OR = 1.99 [95% CI 0.93-4.24]) as was T4216C (OR = 1.63 [95% CI 0.93-2.83]). No significant multi-locus interactions or interactions with other environmental variables were observed. Our data, although preliminary, support the hypothesis that mitochondrial genome polymorphisms may play a significant role in PTB through an interaction with smoking.

Original languageEnglish (US)
Pages (from-to)130-135
Number of pages6
Issue number2
StatePublished - Mar 2008
Externally publishedYes


  • Complex disease
  • Oxidative stress
  • Preterm birth
  • Smoking
  • mtDNA variation

ASJC Scopus subject areas

  • Molecular Medicine
  • Molecular Biology
  • Cell Biology


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