Replication of a Genome-Wide Association Study of Birth Weight in Preterm Neonates - 08/12/11

Doi : 10.1016/j.jpeds.2011.07.038

Kelli K. Ryckman, PhD ¹, Bjarke Feenstra, PhD ², John R. Shaffer, PhD ³, Elise N.A. Bream, BA ¹, Frank Geller, MSc ², Eleanor Feingold, PhD ³, Daniel E. Weeks, PhD ³, Enrique Gadow, MD, PhD ⁴, Viviana Cosentino, MD, PhD ⁴, Cesar Saleme, MD ⁵, Hyagriv N. Simhan, MD ⁶, David Merrill, MD, PhD ⁷, Chin-To Fong, MD ⁸, Tamara Busch, BS ¹, Susan K. Berends, ARNP, NNP ¹, Belen Comas, BS ⁴, Jorge L. Camelo, PhD ⁴, Heather Boyd, PhD ², Cathy C. Laurie, PhD ⁹, David Crosslin, PhD ⁹, Qi Zhang, PhD ⁹, Kimberly F. Doheny, PhD ¹⁰, Elizabeth Pugh, PhD ¹⁰, Mads Melbye, MD, PhD ², Mary L. Marazita, PhD ³, John M. Dagle, MD, PhD ¹, Jeffrey C. Murray, MD ^1,^⁎
¹ Department of Pediatrics, University of Iowa, Iowa City, IA
² Department of Epidemiology Research, Statens Serum Institut, Copenhagen, Denmark
³ Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, PA
⁴ Centro de Educación Médica E Investigaciones Clínicas, Buenos Aires, Capital Federal, Argentina
⁵ Instituto de Maternidad y Ginecología Nuestra Señora de las Mercedes, San Miguel de Tucumán, Argentina
⁶ Obstetrics, Gynecology, and Reproductive Sciences, University of Pittsburgh School of Medicine, Magee-Women’s Research Institute, Pittsburgh, PA
⁷ Wake Forest University Baptist Medical Center, Wake Forest University School of Medicine, Winston-Salem, NC
⁸ Strong Children’s Research Center, University of Rochester School of Medicine, Rochester, NY
⁹ Department of Biostatistics, University of Washington, Seattle, WA
¹⁰ Institute of Genetic Medicine, Johns Hopkins University, Baltimore, MD

Reprint requests: Jeffrey C. Murray, Department of Pediatrics, University of Iowa, 500 Newton Road, 2182ML, Iowa City, IA 52242.

Abstract

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.

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Mots-clés : GWAS, HWE, QTDT, SNP

Plan

Funding information is available at www.jpeds.com (Appendix). The authors declare no conflicts of interest.

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Vol 160 - N° 1

P. 19 - janvier 2012 Retour au numéro

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Replication of a Genome-Wide Association Study of Birth Weight in Preterm Neonates - 08/12/11

Abstract

Objective

Study design

Results

Conclusions

Plan

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