Phosphoglyceric Acid
Introduction
Section titled “Introduction”Phosphoglyceric acid (PGA) is a fundamental molecule in biochemistry, serving as a key intermediate in several essential metabolic pathways within living organisms. It is a phosphorylated derivative of glyceric acid, commonly found in its 3-phosphoglycerate (3-PGA) and 2-phosphoglycerate (2-PGA) forms. Its central role in cellular energy production and biosynthesis makes it a crucial component for maintaining metabolic homeostasis.
Biological Basis
Section titled “Biological Basis”Biologically, phosphoglyceric acid is most notably recognized for its indispensable role in glycolysis, the metabolic pathway that converts glucose into pyruvate to generate energy (ATP). In glycolysis, 3-PGA is formed from 1,3-bisphosphoglycerate and subsequently isomerized to 2-PGA, which then proceeds to form phosphoenolpyruvate (PEP). These steps are vital for cellular respiration and energy supply. Conversely, PGA is also involved in gluconeogenesis, the pathway for glucose synthesis, and serves as a precursor for the biosynthesis of amino acids such such as serine, glycine, and cysteine. Furthermore, derivatives of phosphoglyceric acid, like glycerol-3-phosphate, form the essential backbone for the synthesis of glycerolipids, including complex phospholipids. Research indicates that genetic variants in genes likeFADS1 are strongly associated with the concentrations of various glycerophospholipids, such as phosphatidylcholines (PC), phosphatidylethanolamines (PE), and phosphatidylinositols (PI), which contain a “glycerol moiety” and different fatty acid side chains.[1]For example, specific single nucleotide polymorphisms (SNPs) can influence the levels of glycerophospholipids with multiple double bonds, such as PC aa C36:4 or PC a C20:4, highlighting the genetic influence on these fundamental lipid building blocks.[1]
Clinical Relevance
Section titled “Clinical Relevance”The metabolic pathways involving phosphoglyceric acid are critical for overall health, and their dysregulation can have significant clinical implications. Imbalances in glycolysis or gluconeogenesis pathways, where PGA plays a central role, are often associated with metabolic disorders such as diabetes. While phosphoglyceric acid itself is not a direct trait in many genetic studies, its derivatives and related metabolic products are frequently investigated. Genome-wide association studies (GWAS) have identified numerous genetic variants linked to plasma levels of various lipids, including high-density lipoprotein (HDL) cholesterol, low-density lipoprotein (LDL) cholesterol, and triglycerides.[2] These lipids are often components of glycerophospholipids, whose synthesis pathways are intimately connected to the glycerol backbone derived from PGA-related metabolism. For instance, SNPs have been associated with polygenic dyslipidemia and specific apolipoproteins like APOA-I, APOB, APOC-III, and APOE, all of which are crucial for lipid transport and metabolism.[2] Additionally, genetic variants influencing plasma levels of liver enzymes, which play a role in metabolic regulation, have also been identified.[3]Understanding the genetic factors that influence these lipid and enzyme profiles provides insights into conditions like cardiovascular disease and metabolic syndrome, where phosphoglyceric acid’s foundational role in metabolism is indirectly but critically important.
Social Importance
Section titled “Social Importance”The ubiquitous nature of phosphoglyceric acid in core metabolic processes underscores its broad social importance. As a fundamental building block and an energy pathway intermediate, its proper function is essential for human health and disease prevention. Research into the genetic and environmental factors influencing PGA-related metabolism contributes to a deeper understanding of metabolic diseases, which represent a significant global health burden. Insights gained from studying these pathways can inform the development of improved diagnostic tools, targeted therapeutic interventions, and personalized nutritional strategies, ultimately enhancing public health and well-being.
Methodological and Statistical Considerations
Section titled “Methodological and Statistical Considerations”A primary limitation in genome-wide association studies (GWAS) involves the inherent statistical challenges and study design constraints. While large sample sizes are crucial for detecting genetic associations, some cohorts may be of moderate size, potentially leading to false negative findings or insufficient power to detect modest genetic effects.[4] Furthermore, even with significant statistical support, all associations require external replication in independent cohorts to confirm their validity and differentiate true positives from potential false positives arising from multiple statistical tests.[4]The process of sorting through numerous associations and prioritizing specific single nucleotide polymorphisms (SNPs) for follow-up remains a fundamental challenge.[4] underscoring the need for robust replication strategies, such as meta-analysis across multiple studies. However, discrepancies can still arise due to heterogeneity in meta-analyses, potentially stemming from varying sample ascertainment methods or unmeasured factors.[5]The statistical power for gene discovery is directly linked to sample size, indicating that even larger samples could identify additional sequence variants.[2] While meta-analysis methods, often employing fixed-effects inverse-variance averages of beta-coefficients and genomic control corrections, help to combine evidence and mitigate overdispersion.[3]the observed effect sizes for many variants are relatively small. This can lead to effect-size inflation for initially reported associations, particularly if the initial discovery cohorts are not sufficiently large or if selection bias is present. The reliance on an additive model of inheritance in many analyses simplifies the genetic architecture but might overlook complex non-additive interactions or epistatic effects that could contribute to phenotypic variation.[5]
Population Diversity and Phenotype Assessment
Section titled “Population Diversity and Phenotype Assessment”Generalizability of genetic findings is often limited by the demographic composition of study cohorts. Many large-scale GWAS efforts have predominantly involved individuals of European ancestry.[2] which restricts the direct applicability of findings to other populations. While some studies have attempted to extend findings to multiethnic samples, such as those including Chinese, Malays, and Asian Indians.[2] differences in linkage disequilibrium patterns and allele frequencies across ancestries can impact the transferability and interpretation of identified loci.[5] Consequently, genetic associations confirmed in one population may not hold true or may have different effect sizes in others, highlighting the need for diverse cohorts to ensure broader relevance.
Phenotype measurement and standardization also present challenges. Lipid concentrations and other biomarker traits are often adjusted for various covariates such as age, sex, age squared, and ancestry-informative principal components to reduce environmental confounding and standardize residuals.[2] However, variations in adjustment methods or the inclusion/exclusion of individuals on lipid-lowering therapies across different studies can introduce subtle heterogeneity.[2]Furthermore, while the use of specialized phenotypes, such as specific apolipoprotein concentrations or lipoprotein subfractions, can provide stronger statistical signals and mechanistic insights.[2] the utility of these detailed measurements may vary, and their precise biological interpretation requires careful consideration. The decision to log-transform certain phenotypes, like triglycerides, also reflects an attempt to normalize distributions, but the impact of such transformations on effect sizes and interpretation should be acknowledged.[2]
Unaccounted Factors and Knowledge Gaps
Section titled “Unaccounted Factors and Knowledge Gaps”Despite the significant advances made by GWAS, a substantial portion of the heritability for complex traits remains unexplained, a phenomenon often referred to as “missing heritability.” The identified genetic loci typically explain only a small fraction of the total phenotypic variability.[6]suggesting that many other genetic and environmental factors, as well as their interactions, contribute to the trait. Unaccounted environmental exposures, lifestyle factors, or gene-environment interactions can confound genetic associations and contribute to observed heterogeneity across studies.[5] A comprehensive understanding of these complex interplay is crucial but often challenging to capture in current study designs.
Furthermore, statistical association alone does not equate to functional causality. While highly significant SNPs may point to nearby genes, the precise molecular mechanisms by which these variants influence the trait often remain to be fully elucidated. Functional validation in experimental models is essential to move beyond statistical correlation and understand the biological pathways involved.[4] Even for loci that do not meet stringent genome-wide significance thresholds, some may represent true associations.[2] indicating that current statistical cutoffs might still miss genuine, albeit weaker, genetic effects. Integrating findings with metabolomics data can offer new insights into underlying biochemical mechanisms.[1] but significant knowledge gaps persist regarding the full spectrum of genetic and non-genetic factors influencing complex traits.
Variants
Section titled “Variants”Genetic variants play a crucial role in shaping an individual’s metabolic profile, often influencing pathways related to energy production and cellular homeostasis, which can indirectly or directly impact phosphoglyceric acid levels. Phosphoglyceric acid is a key intermediate in glycolysis, a fundamental pathway for cellular energy generation, and is also involved in serine biosynthesis and other metabolic routes. Understanding the impact of specific single nucleotide polymorphisms (SNPs) on associated genes can shed light on metabolic regulation and disease susceptibility.
Several variants are found within genes integral to fundamental cellular processes and overall metabolism. The rs1058212 variant in the BST1gene, or Bone marrow stromal antigen 1, is associated with aspects of cell adhesion and differentiation, particularly within hematopoietic stem cells. While its direct effect on phosphoglyceric acid is not extensively documented, its role in cell growth and immune responses suggests potential indirect influences on energy demands and metabolic flux. Similarly, thers636889 variant in the RHCE gene, which encodes a component of the Rh blood group system, is vital for the structural integrity and function of red blood cells. Given that red blood cells rely heavily on glycolysis for energy, variants affecting RHCEcould indirectly impact glycolytic intermediates, including phosphoglyceric acid, by altering red blood cell survival or metabolism.[7] The rs34791230 variant, located in or near the MACO1gene (Mitochondrial Assembly Complex One), likely influences mitochondrial function, which is central to aerobic respiration and energy production. Disruptions in mitochondrial efficiency, influenced by such variants, can lead to shifts in substrate utilization and potentially alter the balance of glycolytic intermediates like phosphoglyceric acid.[1] Other variants exert their influence through the intricate mechanisms of gene regulation and epigenetics. The ASH1L gene (ASH1 like histone lysine methyltransferase), with variants such as rs113129002 and rs113312468 , is an epigenetic regulator involved in modifying histones and thereby controlling gene expression. Changes in ASH1Lactivity could broadly affect the expression of enzymes and transporters involved in metabolic pathways, potentially altering the availability of substrates or the rate of reactions that produce or consume phosphoglyceric acid. Similarly, thers74554503 variant in YY1AP1 (YY1 Associated Protein 1) and the rs9438900 variant in RSRP1(Ribosomal RNA Processing 1 Homolog) are linked to transcriptional regulation and ribosome biogenesis, respectively. These fundamental processes dictate the synthesis of all cellular proteins, including metabolic enzymes. Variations affecting these genes could therefore lead to widespread changes in protein levels, ultimately impacting metabolic flux and the concentration of key metabolites like phosphoglyceric acid.[8] Variants with more direct metabolic or physiological roles include rs141119689 , which is found in a region associated with both PKLR and FDPS. The PKLRgene (Pyruvate Kinase Liver and Red Blood Cell) encodes pyruvate kinase, a critical enzyme that catalyzes the final step of glycolysis, directly downstream from the phosphoglyceric acid pathway. Variants inPKLRcan significantly alter glycolytic rates and energy production, particularly in red blood cells, thereby having a direct bearing on phosphoglyceric acid levels. TheFDPS gene (Farnesyl Diphosphate Synthase), while involved in cholesterol biosynthesis, connects to broader metabolic networks that interact with glycolysis. The rs9376095 variant in the HBS1L - MYBintergenic region is well-known for its association with hematological traits, including fetal hemoglobin levels and red blood cell parameters. Since red blood cells are highly dependent on glycolysis for energy, variants affecting their development or function can influence their metabolic profiles and phosphoglyceric acid concentrations.[9] Lastly, the rs1541252 variant in ATP2B4 (ATPase Plasma Membrane Ca2+ Transporting 4) is associated with a gene encoding a plasma membrane calcium ATPase, crucial for maintaining cellular calcium homeostasis. Calcium signaling is a universal regulator of numerous cellular functions, including metabolic enzyme activity, suggesting that variants in ATP2B4could indirectly modulate glycolytic flux and phosphoglyceric acid levels through altered calcium dynamics.[2]
Key Variants
Section titled “Key Variants”| RS ID | Gene | Related Traits |
|---|---|---|
| rs1058212 | BST1 | phosphoglyceric acid measurement |
| rs636889 | RHCE | phosphoglyceric acid measurement carbohydrate measurement |
| rs34791230 | MACO1 | low density lipoprotein cholesterol measurement free cholesterol measurement, low density lipoprotein cholesterol measurement phosphoglyceric acid measurement |
| rs113129002 | ASH1L | phosphoglyceric acid measurement phosphoenolpyruvic acid measurement |
| rs141119689 | PKLR - FDPS | reticulocyte count pyruvate kinase PKLR measurement phosphoglyceric acid measurement phosphoenolpyruvic acid measurement |
| rs113312468 | ASH1L | pyruvate measurement phosphoglyceric acid measurement phosphoenolpyruvic acid measurement |
| rs74554503 | YY1AP1 | phosphoglyceric acid measurement |
| rs9438900 | RSRP1 | carbohydrate measurement phosphoglyceric acid measurement polyunsaturated fatty acid measurement omega-6 polyunsaturated fatty acid measurement |
| rs9376095 | HBS1L - MYB | phosphoglyceric acid measurement |
| rs1541252 | ATP2B4 | mean corpuscular hemoglobin concentration phosphoglyceric acid measurement |
Biological Background
Section titled “Biological Background”Phosphoglyceric acid, as a fundamental phosphorylated glycerol derivative, plays a crucial role in the intricate landscape of cellular metabolism, particularly as a precursor to the diverse class of glycerophospholipids. While phosphoglyceric acid itself is a broadly encompassing term, its biological significance in the context of lipid metabolism is closely tied to glycerol 3-phosphate and the subsequent synthesis of complex lipids. These molecules are integral to maintaining cellular structure and function, with their levels and composition influenced by both environmental factors and genetic predispositions.
Fundamental Role in Glycerophospholipid Metabolism
Section titled “Fundamental Role in Glycerophospholipid Metabolism”Phosphorylated glycerol derivatives, such as glycerol 3-phosphate, serve as foundational building blocks for glycerophospholipids, a major class of lipids essential for all biological membranes. Glycerophospholipids are characterized by a glycerol backbone esterified with two fatty acid chains and a phosphate group, often linked to a polar head group. Key glycerophospholipid species include phosphatidylcholines (PC), phosphatidylethanolamines (PE), phosphatidylglycerols (PG), phosphatidylinositols (PI), phosphatidylinositol-bisphosphates (PIP2), and phosphatidylserines (PS).[1]The synthesis of many of these, notably phosphatidylcholines, largely occurs through the Kennedy pathway, where two fatty acid moieties are sequentially attached to glycerol 3-phosphate, followed by dephosphorylation and the addition of a phosphocholine moiety.[1] This pathway highlights the central position of phosphorylated glycerol intermediates in generating the structural components of cell membranes and mediating various cellular functions.
Genetic Regulation of Fatty Acid and Glycerophospholipid Composition
Section titled “Genetic Regulation of Fatty Acid and Glycerophospholipid Composition”The precise composition of fatty acid side chains within glycerophospholipids is under significant genetic control, with genes like FADS1 playing a critical role. FADS1encodes the delta-5 desaturase enzyme, which is essential for the synthesis of long-chain polyunsaturated fatty acids (LCPUFAs), such as arachidonic acid (C20:4), from precursors like eicosatrienoyl-CoA (C20:3).[1]Genetic variants, specifically single nucleotide polymorphisms (SNPs) within theFADS1gene cluster, have been strongly associated with the fatty acid composition of phospholipids and the plasma concentrations of various glycerophospholipid species.[1] For instance, the minor allele of rs174548 in FADS1is linked to reduced concentrations of LCPUFAs like arachidonic acid and its lyso-phosphatidylcholine derivative (PC a C20:4), while increasing levels of glycerophospholipids containing three double bonds.[1]This genetic influence directly impacts the availability of specific fatty acids for incorporation into the glycerol backbone, thereby altering the overall glycerophospholipid profile.
Molecular Pathways of Fatty Acid Incorporation
Section titled “Molecular Pathways of Fatty Acid Incorporation”The synthesis of glycerophospholipids involves a complex interplay of fatty acid elongation and desaturation pathways, which feed into the main lipid synthesis routes. Essential fatty acids, such as linoleic acid (C18:2) and alpha-linolenic acid (C18:3), are metabolically converted into LCPUFAs, while saturated and monounsaturated fatty acids like palmitic acid (C16:0), stearic acid (C18:0), and oleic acid (C18:1) can be synthesized de novo.[1]These diverse fatty acid species are then incorporated into the glycerol 3-phosphate backbone, forming various glycerophospholipids. The specific arrangement and type of bonds (ester ‘a’ or ether ‘e’) in the glycerol moiety further differentiate these lipids, leading to species like diacyl (aa), acyl-alkyl (ae), or dialkyl (ee) glycerophospholipids, each contributing to the complexity and functional diversity of cellular membranes.[1] The efficiency of enzymes like FADS1in these pathways directly dictates the types and proportions of fatty acids available for glycerophospholipid assembly, influencing cellular membrane properties and signaling.
Systemic Implications and Metabolic Homeostasis
Section titled “Systemic Implications and Metabolic Homeostasis”Alterations in the synthesis and composition of glycerophospholipids have systemic consequences, impacting metabolic homeostasis and potentially contributing to various physiological states. Genome-wide association studies have revealed that genetic variants influencing the activity of enzymes like FADS1can explain a significant portion of the variability in plasma glycerophospholipid concentrations within a population.[1] For example, polymorphisms affecting FADS1 efficiency result in characteristic shifts in the ratios of specific glycerophospholipids, such as [PC aa C36:4]/[PC aa C36:3], which serve as strong indicators of the enzyme’s catalytic activity.[1]These systemic changes in circulating glycerophospholipid profiles reflect underlying metabolic disruptions and can have broader implications for organ-level biology and tissue interactions, as these lipids are involved in transport, signaling, and maintaining the integrity of various bodily systems.
Metabolic Origins and Glycerophospholipid Synthesis
Section titled “Metabolic Origins and Glycerophospholipid Synthesis”Phosphoglyceric acid is a key intermediate in central carbon metabolism, contributing to the pool of precursors for various biosynthetic pathways. Among its crucial derivatives is glycerol 3-phosphate, a fundamental building block for glycerophospholipids. The synthesis of complex lipids, such as phosphatidylcholine (PC), primarily occurs through the Kennedy pathway where glycerol 3-phosphate is combined with two fatty acid moieties, followed by dephosphorylation and the addition of a phosphocholine group.[1] This process integrates fatty acid metabolism, where long-chain polyunsaturated fatty acids are produced from essential linoleic (C18:2) and alpha-linolenic (C18:3) acids via omega-6 and omega-3 pathways, respectively, while saturated and monounsaturated fatty acids like palmitic (C16:0), stearic (C18:0), and oleic (C18:1) acids can be synthesized de novo.[1]The efficiency and composition of these lipids are thus tightly linked to the availability and type of fatty acids and glycerol 3-phosphate precursors.
Genetic Modulators of Lipid Composition and Regulation
Section titled “Genetic Modulators of Lipid Composition and Regulation”The precise composition of glycerophospholipids is subject to genetic regulation, significantly influenced by genes involved in fatty acid desaturation. Common genetic variants within the FADS1 and FADS2 gene cluster are strongly associated with the fatty acid composition in phospholipids.[10] For instance, a polymorphism in FADS1 can reduce the catalytic activity or protein abundance of delta-5 desaturase, leading to altered availability of specific fatty acyl-CoAs, such as increased eicosatrienoyl-CoA (C20:3) and decreased arachidonyl-CoA (C20:4).[1] This regulatory mechanism directly impacts the ratios of glycerophospholipids, like the [PC aa C36:4]/[PC aa C36:3] ratio, which serves as a sensitive indicator of FADS1 reaction efficiency and reflects changes in the lipid profile.[1]
Lipid Homeostasis and Transport Mechanisms
Section titled “Lipid Homeostasis and Transport Mechanisms”Beyond synthesis, the regulation of lipid profiles involves complex transport and catabolic pathways critical for maintaining cellular and systemic homeostasis. The phospholipid transfer protein (PLTP) plays a significant role in influencing high-density lipoprotein (HDL) levels, with targeted mutations in its gene leading to marked reductions in HDL.[11] Furthermore, the enzyme LIPC (hepatic lipase) may affect the substrate specificity of phosphatidylethanolamines and influence the broader cholesterol pathway, highlighting its potential role in metabolic regulation and the flux of lipid components.[1] These interactions demonstrate sophisticated mechanisms controlling the distribution and turnover of phospholipids within the body.
Systems-Level Integration and Disease Pathogenesis
Section titled “Systems-Level Integration and Disease Pathogenesis”Dysregulation within phospholipid metabolism pathways can have significant systems-level consequences, acting as intermediate phenotypes that link genetic variations to complex diseases. For example, a genetic polymorphism like rs4775041 , which is associated with phospholipids and blood cholesterol levels, also shows weak associations with type 2 diabetes, bipolar disorder, and rheumatoid arthritis, suggesting a causal relationship that warrants further investigation.[1]Additionally, the involvement of glycosylphosphatidylinositol-specific phospholipase D (GPI-PLD) has been observed in non-alcoholic fatty liver disease, indicating a role for specific phospholipase activities in disease mechanisms.[12]These instances illustrate how integrated metabolic networks, when perturbed, can contribute to the emergent properties of disease, emphasizing the interconnectedness of lipid pathways with overall health.
Frequently Asked Questions About Phosphoglyceric Acid Measurement
Section titled “Frequently Asked Questions About Phosphoglyceric Acid Measurement”These questions address the most important and specific aspects of phosphoglyceric acid measurement based on current genetic research.
1. Could measuring my phosphoglyceric acid help my diet choices?
Section titled “1. Could measuring my phosphoglyceric acid help my diet choices?”Yes, it’s a key part of personalized health. By understanding your unique metabolic profile, including levels of metabolites like phosphoglyceric acid, doctors could tailor diet strategies specifically for you. This approach, combining your genetic profile with metabolic measurements, aims for more effective disease prevention and health management.
2. Can checking my phosphoglyceric acid levels predict my disease risk?
Section titled “2. Can checking my phosphoglyceric acid levels predict my disease risk?”It could offer deeper insights. Measuring metabolites like phosphoglyceric acid provides a detailed look into your biochemical pathways, which are influenced by your genes. This information can offer more precise insights into how genetic variations might influence your risk for common diseases like diabetes or heart disease, moving beyond simple genetic associations.
3. If my family has diabetes, would measuring my phosphoglyceric acid help me?
Section titled “3. If my family has diabetes, would measuring my phosphoglyceric acid help me?”It could provide valuable context. If you have a family history of conditions like diabetes, measuring metabolites helps bridge the gap between your genes and how they might affect your health. It offers a clearer picture of the specific biochemical pathways that could be influenced by your inherited genetic variations.
4. Does my exercise routine affect my phosphoglyceric acid levels?
Section titled “4. Does my exercise routine affect my phosphoglyceric acid levels?”It’s highly likely. Your metabolic profile, which includes levels of metabolites like phosphoglyceric acid, is continuously influenced by lifestyle factors. Understanding these measurements alongside your genetics can show how your body’s biochemical pathways respond to things like exercise and contribute to your overall health.
5. Can specific foods I eat change my phosphoglyceric acid levels?
Section titled “5. Can specific foods I eat change my phosphoglyceric acid levels?”Yes, your diet plays a significant role in shaping your metabolic state. Measuring metabolites like phosphoglyceric acid can reveal how different foods impact your unique biochemical pathways. This information is crucial for developing personalized nutrition strategies tailored to your body.
6. Would my phosphoglyceric acid levels differ just because I’m a woman?
Section titled “6. Would my phosphoglyceric acid levels differ just because I’m a woman?”Potentially, yes. Research shows that analyzing data without considering sex-specific differences can overlook important genetic associations. So, your biological sex could indeed influence your metabolic profile, including levels of phosphoglyceric acid, and how those levels relate to health.
7. Does my ethnic background impact what my phosphoglyceric acid levels mean?
Section titled “7. Does my ethnic background impact what my phosphoglyceric acid levels mean?”It might. While some study designs account for diverse ancestral backgrounds, findings might not always apply universally across all populations. Your ethnic background could influence genetic variations that affect your metabolic profile, making ancestry an important factor in interpreting your levels.
8. Are phosphoglyceric acid measurements always reliable for my health?
Section titled “8. Are phosphoglyceric acid measurements always reliable for my health?”While promising, these measurements and the studies behind them have limitations. Genetic associations often have small individual effects, meaning very large studies are needed for reliable detection. Also, current research might not capture all genetic variations, affecting how broadly findings apply to everyone.
9. Could my phosphoglyceric acid levels explain why I feel tired sometimes?
Section titled “9. Could my phosphoglyceric acid levels explain why I feel tired sometimes?”Possibly. Measuring metabolites helps to understand your body’s intermediate biochemical processes and pathways. If your phosphoglyceric acid levels are abnormal, it could signal an issue in a pathway that impacts your energy levels or overall well-being, potentially providing clues to underlying mechanisms.
10. Will measuring phosphoglyceric acid become a routine check-up someday?
Section titled “10. Will measuring phosphoglyceric acid become a routine check-up someday?”It’s a strong possibility for the future. Combining genetic information with detailed metabolic profiles, including measurements like phosphoglyceric acid, is seen as a key step towards personalized healthcare. This could lead to highly tailored strategies for preventing, diagnosing, and treating diseases.
This FAQ was automatically generated based on current genetic research and may be updated as new information becomes available.
Disclaimer: This information is for educational purposes only and should not be used as a substitute for professional medical advice. Always consult with a healthcare provider for personalized medical guidance.
References
Section titled “References”[1] Gieger, C., et al. “Genetics meets metabolomics: a genome-wide association study of metabolite profiles in human serum.”PLoS Genet, vol. 5, no. 11, 2009, p. e1000694.
[2] Kathiresan, S., et al. “Common variants at 30 loci contribute to polygenic dyslipidemia.” Nat Genet, vol. 41, no. 1, 2009, pp. 56-65.
[3] Yuan, X., et al. “Population-based genome-wide association studies reveal six loci influencing plasma levels of liver enzymes.” Am J Hum Genet, vol. 83, no. 4, 2008, pp. 520-528. PMID: 18940312.
[4] Benjamin, E. J., et al. “Genome-wide association with select biomarker traits in the Framingham Heart Study.” BMC Med Genet, vol. 8, 2007, p. 58.
[5] Burkhardt, R., et al. “Common SNPs in HMGCR in micronesians and whites associated with LDL-cholesterol levels affect alternative splicing of exon13.” Arterioscler Thromb Vasc Biol, vol. 28, no. 10, 2008, pp. 1824-31.
[6] Sabatti, C., et al. “Genome-wide association analysis of metabolic traits in a birth cohort from a founder population.”Nat Genet, vol. 41, no. 1, 2009, pp. 35-46.
[7] Hwang, Shih-Jen, et al. “A genome-wide association for kidney function and endocrine-related traits in the NHLBI’s Framingham Heart Study.” BMC Med Genet 8.Suppl 1 (2007): S10.
[8] Reiner, Alexander P., et al. “Polymorphisms of the HNF1A gene encoding hepatocyte nuclear factor-1 alpha are associated with C-reactive protein.”Am J Hum Genet 82.5 (2008): 1193-1201.
[9] Wallace, Cathryn, et al. “Genome-wide association study identifies genes for biomarkers of cardiovascular disease: serum urate and dyslipidemia.”Am J Hum Genet 82.1 (2008): 139-149.
[10] Schaeffer, L., et al. (2006). Common genetic variants of the FADS1 FADS2 gene cluster and their reconstructed haplotypes are associated with the fatty acid composition in phospholipids. Hum Mol Genet, 15(11), 1745-1756.
[11] Jiang, X. C., et al. (1999). Targeted mutation of plasma phospholipid transfer protein gene markedly reduces high-density lipoprotein levels. J Clin Invest, 103(7), 907-914.
[12] Chalasani, N., Vuppalanchi, R., Raikwar, N. S., & Deeg, M. A. (2006). Glycosylphosphatidylinositol-specific phospholipase d in nonalcoholic Fatty liver disease: A preliminary study. J Clin Endocrinol Metab, 91(6), 2279-2285.