Replication of a genome-wide association study of birth weight in preterm neonates

Kelli K. Ryckman, Bjarke Feenstra, John R. Shaffer, Elise N.A. Bream, Frank Geller, Eleanor Feingold, Daniel E. Weeks, Enrique Gadow, Viviana Cosentino, Cesar Saleme, Hyagriv N. Simhan, David Merrill, Chin To Fong, Tamara Busch, Susan K. Berends, Belen Comas, Jorge L. Camelo, Heather Boyd, Cathy C. Laurie, David CrosslinQi Zhang, Kimberly F. Doheny, Elizabeth Pugh, Mads Melbye, Mary L. Marazita, John M. Dagle, Jeffrey C. Murray

Research output: Contribution to journalArticlepeer-review

11 Scopus citations


Objective: To examine associations between rs9883204 in ADCY5 and rs900400 near LEKR1 and CCNL1 with birth weight in a preterm population. Both markers were associated with birth weight in a term population in a recent genome-wide association study of Freathy et al. Study design: A meta-analysis of mother and infant samples was performed for associations of rs900400 and rs9883204 with birth weight in 393 families from the US, 265 families from Argentina, and 735 mother-infant pairs from Denmark. Z-scores adjusted for infant sex and gestational age were generated for each population separately and regressed on allele counts. Association evidence was combined across sites by inverse-variance weighted meta-analysis. Results: Each additional C allele of rs900400 (LEKR1/CCNL1) in infants was marginally associated with a 0.069 SD lower birth weight (95% CI, -0.159 to 0.022; P =.068). This result was slightly more pronounced after adjusting for smoking (P =.036). No significant associations were identified with rs9883204 or in maternal samples. Conclusions: These results indicate the potential importance of this marker on birth weight regardless of gestational age.

Original languageEnglish (US)
Pages (from-to)19-24.e4
JournalJournal of Pediatrics
Issue number1
StatePublished - Jan 2012

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health


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