Association of BCAT2 and BCKDH polymorphisms with clinical, anthropometric and biochemical parameters in young adults
| العنوان: | Association of BCAT2 and BCKDH polymorphisms with clinical, anthropometric and biochemical parameters in young adults |
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| المؤلفون: | Nimbe Torres, Claudia Tovar-Palacio, Lilia G. Noriega, Ana Luisa Mendez-Garcia, Martha Guevara-Cruz, Ana K. Rocha-Viggiano, Natalia Vázquez-Manjarrez, Armando R. Tovar, Jose M. Ordovas, Eduardo Medina-Cerda, Guillermo Ordaz-Nava, Adriana M. López-Barradas, Isabel Medina-Vera, Rocío Guizar-Heredia, Omar Granados, Berenice Palacios-González, Miriam Aguilar-Lopez, Juan Manuel Vargas-Morales, Alejandro Schcolnik-Cabrera |
| المصدر: | Nutrition, metabolism, and cardiovascular diseases : NMCD. 31(11) |
| سنة النشر: | 2021 |
| مصطلحات موضوعية: | Blood Glucose, Male, medicine.medical_specialty, Adolescent, Endocrinology, Diabetes and Metabolism, Medicine (miscellaneous), Single-nucleotide polymorphism, Blood Pressure, Pregnancy Proteins, Polymorphism, Single Nucleotide, 3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide), Body Mass Index, Minor Histocompatibility Antigens, chemistry.chemical_compound, Young Adult, Insulin resistance, Gene Frequency, Internal medicine, medicine, SNP, Humans, Allele, Amino Acids, Mexico, Genetic Association Studies, Transaminases, chemistry.chemical_classification, Nutrition and Dietetics, Methionine, business.industry, Homozygote, Age Factors, medicine.disease, Amino acid, Endocrinology, Cross-Sectional Studies, Phenotype, chemistry, Female, Isoleucine, Cardiology and Cardiovascular Medicine, business, Body mass index, Biomarkers |
| الوصف: | 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 % for BCAT2 and 9.83 % 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 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. |
| تدمد: | 1590-3729 1154-8193 |
| URL الوصول: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b660b34787f98cff1a49d4ec0da63821 https://pubmed.ncbi.nlm.nih.gov/34511290 |
| حقوق: | CLOSED |
| رقم الأكسشن: | edsair.doi.dedup.....b660b34787f98cff1a49d4ec0da63821 |
| قاعدة البيانات: | OpenAIRE |
Full Text via ClinicalKey | تدمد: | 15903729 11548193 |
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