Association of BCAT2 and BCKDH polymorphisms with clinical, anthropometric and biochemical parameters in young adults
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Background and aim: Circulating amino acids are modified by sex, body mass index (BMI) and insulin resistance (IR). However, whether the presence of genetic variants in branched-chain amino acid (BCAA) catabolic enzymes modifies circulating amino acids is still unknown. Thus, we determined the frequency of two genetic variants, one in the branched-chain aminotransferase 2 (BCAT2) gene (rs11548193), and one in the branched-chain ketoacid dehydrogenase (BCKDH) gene (rs45500792), and elucidated their impact on circulating amino acid levels together with clinical, anthropometric and biochemical parameters. Methods and results: We performed a cross-sectional comparative study in which we recruited 1612 young adults (749 women and 863 men) aged 19.7 ± 2.1 years and with a BMI of 24.9 ± 4.7 kg/m2. Participants underwent clinical evaluation and provided blood samples for DNA extraction and biochemical analysis. The single nucleotide polymorphisms (SNPs) were determined by allelic discrimination using real-time polymerase chain reaction (PCR). The frequencies of the less common alleles were 15.2 %25 for BCAT2 and 9.83 %25 for BCKDH. The subjects with either the BCAT2 or BCKDH SNPs displayed no differences in the evaluated parameters compared with subjects homozygotes for the most common allele at each SNP. However, subjects with both SNPs had higher body weight, BMI, blood pressure, glucose, and circulating levels of aspartate, isoleucine, methionine, and proline than the subjects homozygotes for the most common allele (P < 0.05, One-way ANOVA). Conclusion: Our findings suggest that the joint presence of both the BCAT2 rs11548193 and BCKDH rs45500792 SNPs induces metabolic alterations that are not observed in subjects without either SNP. © 2021 The Italian Diabetes Society, the Italian Society for the Study of Atherosclerosis, the Italian Society of Human Nutrition and the Department of Clinical Medicine and Surgery, Federico II University
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Amino acids; BCAAs; Insulin resistance; Obesity; SNPs 2 oxoisovalerate dehydrogenase (lipoamide); amino acid; aspartic acid; branched chain amino acid aminotransferase; isoleucine; methionine; proline; 2 oxoisovalerate dehydrogenase (lipoamide); aminotransferase; BCAT2 protein, human; biological marker; minor histocompatibility antigen; placenta protein; Article; blood pressure; blood sampling; controlled study; DNA extraction; female; genetic association; genetic polymorphism; genotype; high performance liquid chromatography; homozygote; human; insulin resistance; liver disease; major clinical study; male; real time polymerase chain reaction; single nucleotide polymorphism; adolescent; age; blood; body mass; comparative study; cross-sectional study; gene frequency; genetic association study; genetics; glucose blood level; metabolism; Mexico; phenotype; single nucleotide polymorphism; young adult; 3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide); Adolescent; Age Factors; Amino Acids; Biomarkers; Blood Glucose; Blood Pressure; Body Mass Index; Cross-Sectional Studies; Female; Gene Frequency; Genetic Association Studies; Homozygote; Humans; Male; Mexico; Minor Histocompatibility Antigens; Phenotype; Polymorphism, Single Nucleotide; Pregnancy Proteins; Transaminases; Young Adult
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