| Title |
Metabolic heritability at birth: implications for chronic disease research
|
|---|---|
| Published in |
Human Genetics, May 2014
|
| DOI | 10.1007/s00439-014-1450-4 |
| Pubmed ID | |
| Authors |
Kelli K. Ryckman, Caitlin J. Smith, Laura L. Jelliffe-Pawlowski, Allison M. Momany, Stanton L. Berberich, Jeffrey C. Murray |
| Abstract |
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(-29)). 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 < 1 × 10(-4)) 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. |
X Demographics
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Geographical breakdown
| Country | Count | As % |
|---|---|---|
| United States | 1 | 100% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Members of the public | 1 | 100% |
Mendeley readers
The data shown below were compiled from readership statistics for 26 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Japan | 1 | 4% |
| Unknown | 25 | 96% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Master | 4 | 15% |
| Researcher | 4 | 15% |
| Student > Doctoral Student | 3 | 12% |
| Student > Ph. D. Student | 3 | 12% |
| Professor | 2 | 8% |
| Other | 3 | 12% |
| Unknown | 7 | 27% |
| Readers by discipline | Count | As % |
|---|---|---|
| Biochemistry, Genetics and Molecular Biology | 6 | 23% |
| Agricultural and Biological Sciences | 5 | 19% |
| Psychology | 2 | 8% |
| Computer Science | 1 | 4% |
| Nursing and Health Professions | 1 | 4% |
| Other | 2 | 8% |
| Unknown | 9 | 35% |
Attention Score in Context
This research output has an Altmetric Attention Score of 4. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 11 April 2018.
All research outputs
#6,406,498
of 22,760,687 outputs
Outputs from Human Genetics
#807
of 2,951 outputs
Outputs of similar age
#61,316
of 226,263 outputs
Outputs of similar age from Human Genetics
#10
of 26 outputs
Altmetric has tracked 22,760,687 research outputs across all sources so far. This one has received more attention than most of these and is in the 70th percentile.
So far Altmetric has tracked 2,951 research outputs from this source. They typically receive a little more attention than average, with a mean Attention Score of 6.2. This one has gotten more attention than average, scoring higher than 71% of its peers.
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