ArticleGenome biology2016
Whole genome sequence analysis of serum amino acid levels.
Article in Genome biology, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers, 1 of them a synthesis that pooled it.
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Who cites it
17 citing papers in PubMed, 1 synthesis or guideline pooled it, 23 citations in OpenAlex.
- Use of Mendelian Randomization to Unveil Metabolic Markers inJournal of Korean medical science · 2026Pooled it
- Circulating amino acids and the risk of macrovascular, microvascular and mortality outcomes in individuals with type 2 diabetes: results from the ADVANCE trial.Diabetologia · 2018Trial
- Application of Mendelian randomization to explore metabolic pathways in colorectal cancer.Annals of medicine and surgery (2012) · 2025Article
- Rare variants at KCNJ2 are associated with LDL-cholesterol levels in a cross-population study.NPJ genomic medicine · 2024Article
- Whole-Genome Sequencing Analysis of Human Metabolome in Multi-Ethnic Populations.Nature communications · 2023Article
- Article
- Sequencing-based genome-wide association studies reporting standards.Cell genomics · 2021Article
- Genome-wide association study of serum metabolites in the African American Study of Kidney Disease and Hypertension.Kidney international · 2021Article
- A Genome-wide Association Study Discovers 46 Loci of the Human Metabolome in the Hispanic Community Health Study/Study of Latinos.American journal of human genetics · 2020Article
- Unraveling the functional role of the orphan solute carrier, SLC22A24 in the transport of steroid conjugates through metabolomic and genome-wide association studies.PLoS genetics · 2019Article
- Serum Metabolomics and Incidence of Atrial Fibrillation (from the Atherosclerosis Risk in Communities Study).The American journal of cardiology · 2019Article
- The Consortium of Metabolomics Studies (COMETS): Metabolomics in 47 Prospective Cohort Studies.American journal of epidemiology · 2019Article
- Article
- Genetic variants in microRNA genes and targets associated with cardiovascular disease risk factors in the African-American population.Human genetics · 2018Article
- Whole-genome sequencing study of serum peptide levels: the Atherosclerosis Risk in Communities study.Human molecular genetics · 2017Article
- Challenges and progress in interpretation of non-coding genetic variants associated with human disease.Experimental biology and medicine (Maywood, N.J.) · 2017Article
- Human disease genomics: from variants to biology.Genome biology · 2017Article
Corrections and comments
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Authors and funding
11 authors at 3 institutions in 1 country.
Funding
Abstract
backgroundBlood levels of amino acids are important biomarkers of disease and are influenced by synthesis, protein degradation, and gene-environment interactions. Whole genome sequence analysis of amino acid levels may establish a paradigm for analyzing quantitative risk factors.
resultsIn a discovery cohort of 1872 African Americans and a replication cohort of 1552 European Americans we sequenced exons and whole genomes and measured serum levels of 70 amino acids. Rare and low-frequency variants (minor allele frequency ≤5%) were analyzed by three types of aggregating motifs defined by gene exons, regulatory regions, or genome-wide sliding windows. Common variants (minor allele frequency >5%) were analyzed individually. Over all four analysis strategies, 14 gene-amino acid associations were identified and replicated. The 14 loci accounted for an average of 1.8% of the variance in amino acid levels, which ranged from 0.4 to 9.7%. Among the identified locus-amino acid pairs, four are novel and six have been reported to underlie known Mendelian conditions. These results suggest that there may be substantial genetic effects on amino acid levels in the general population that may underlie inborn errors of metabolism. We also identify a predicted promoter variant in AGA (the gene that encodes aspartylglucosaminidase) that is significantly associated with asparagine levels, with an effect that is independent of any observed coding variants.
conclusionsThese data provide insights into genetic influences on circulating amino acid levels by integrating -omic technologies in a multi-ethnic population. The results also help establish a paradigm for whole genome sequence analysis of quantitative traits.
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