Replication of a Genome-Wide Association Study of Birth Weight in Preterm Neonates

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• 作者：Kelli K. Ryckman ; PhD¹ ; Bjarke Feenstra ; PhD² ; John R. Shaffer ; PhD³ ; Elise N.A. Bream ; BA¹ ; Frank Geller ; MSc² ; Eleanor Feingold ; PhD³ ; Daniel E. Weeks ; PhD³ ; Enrique Gadow ; MD ; PhD⁴ ; Viviana Cosentino ; MD ; PhD⁴ ; Cesar Saleme ; MD⁵ ; Hyagriv N. Simhan ; MD⁶ ; David Merrill ; MD ; PhD⁷ ; Chin-To Fong ; MD⁸ ; Tamara Busch ; BS¹ ; Susan K. Berends ; ARNP ; NNP¹ ; Belen Comas ; BS⁴ ; Jorge L. Camelo ; PhD⁴ ; Heather Boyd ; PhD² ; Cathy C. Laurie ; PhD⁹ ; David Crosslin ; PhD⁹ ; Qi Zhang ; PhD⁹ ; Kimberly F. Doheny ; PhD¹⁰ ; Elizabeth Pugh ; PhD¹⁰ ; Mads Melbye ; MD ; PhD² ; Mary L. Marazita ; PhD³ ; John M. Dagle ; MD ; PhD¹ ; Jeffrey C. Murray ; MD¹ ; ^{jeff-murray@uiowa.edu}
• 关键词：GWAS ; Genome-wide association study ; HWE ; Hardy-Weinberg equilibrium ; QTDT ; Quantitative transmission disequilibrium test ; SNP ; Single nucleotide polymorphism
• 刊名：The Journal of Pediatrics
• 出版年：2012
• 出版时间：January, 2012
• 年：2012
• 卷：160
• 期：1
• 页码：19-24.e4
• 全文大小：428 K

文摘

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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.