Metabolic heritability at birth: implications for chronic disease research

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• 作者：Kelli K. Ryckman (1)
  Caitlin J. Smith (1)
  Laura L. Jelliffe-Pawlowski (2) (3)
  Allison M. Momany (4)
  Stanton L. Berberich (5)
  Jeffrey C. Murray (4)
  
• 刊名：Human Genetics
• 出版年：2014
• 出版时间：August 2014
• 年：2014
• 卷：133
• 期：8
• 页码：1049-1057
• 全文大小：1,020 KB
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• 作者单位：Kelli K. Ryckman (1)
  Caitlin J. Smith (1)
  Laura L. Jelliffe-Pawlowski (2) (3)
  Allison M. Momany (4)
  Stanton L. Berberich (5)
  Jeffrey C. Murray (4)
  
  1. Department of Epidemiology, University of Iowa, Iowa City, IA, 52242, USA
  2. Genetic Disease Screening Program, California Department of Public Health, Sacramento, CA, 95899, USA
  3. Division of Preventive Medicine and Public Health, Department of Epidemiology and Biostatistics, University of California San Francisco School of Medicine, San Francisco, CA, 94143, USA
  4. Department of Pediatrics, University of Iowa, Iowa City, IA, 52242, USA
  5. State Hygienic Laboratory, University of Iowa, Iowa City, IA, 52241, USA
  
• ISSN：1432-1203

文摘

Recent genome-wide association studies of the adult human metabolome have identified genetic variants associated with relative levels of several acylcarnitines, which are important clinical correlates for chronic conditions such as type 2 diabetes and obesity. We have previously shown that these same metabolite levels are highly heritable at birth; however, no studies to our knowledge have examined genetic associations with these metabolites measured at birth. Here, we examine, in 743 newborns, 58 single nucleotide polymorphisms (SNPs) in 11 candidate genes previously associated with differing relative levels of short-chain acylcarnitines in adults. Six SNPs (rs2066938, rs3916, rs3794215, rs555404, rs558314, rs1799958) in the short-chain acyl-CoA dehydrogenase gene (ACADS) were associated with neonatal C4 levels. Most significant was the G allele of rs2066938, which was associated with significantly higher levels of C4 (P?=?1.5?×?10?9). This SNP explains 25?% of the variation in neonatal C4 levels, which is similar to the variation previously reported in adult C4 levels. There were also significant (P??) associations between neonatal levels of C5-OH and SNPs in the solute carrier family 22 genes (SLC22A4 and SLC22A5) and the 3-methylcrotonyl-CoA carboxylase 1 gene (MCCC1). We have replicated, in newborns, SNP associations between metabolic traits and the ACADS and SLC22A4 genes observed in adults. This research has important implications not only for the identification of rare inborn errors of metabolism but also for personalized medicine and early detection of later life risks for chronic conditions.